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documents/argo/2018-01-20 North Austin - Vaccines.md
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provider: North Austin Animal Hospital
location: Austin, TX
total: $154.00
source: "[[originals/argo_exams.pdf]]"
source: "[[argo_exams.pdf]]"
---
# North Austin Animal Hospital — Invoice

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documents/argo/2018-04-20 Austin Vet Care - Wound Treatment.md
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provider: Austin Vet Care @ Central Park
location: Austin, TX
total: $446.30
source: "[[originals/argo_exam_2018.pdf]]"
source: "[[argo_exam_2018.pdf]]"
---
# Austin Vet Care @ Central Park — Invoice

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documents/argo/2018-12-27 North Austin - Vaccines.md
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provider: North Austin Animal Hospital
location: Austin, TX
total: $132.00
source: "[[originals/argo_exams.pdf]]"
source: "[[argo_exams.pdf]]"
---
# North Austin Animal Hospital — Invoice

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documents/argo/2019-12-04 Sunnyvale Vet - Annual Exam.md
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provider: Sunnyvale Vet Clinic
location: Sunnyvale, CA
total: $306.00
source: "[[originals/argo_exams.pdf]]"
source: "[[argo_exams.pdf]]"
---
# Sunnyvale Vet Clinic — Invoice

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documents/argo/2021-11-08 VCA West LA - Emergency Visit.md
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@@ -5,8 +5,8 @@ provider: VCA West Los Angeles Animal Hospital
location: Los Angeles, CA
total: $495.80
source:
- "[[originals/Jiang-Argo__2021-12-02_Jiang-Argo__Medical history 2021-11-08 to 2021-11-09.pdf]]"
- "[[originals/argo_exams.pdf]]"
- "[[Jiang-Argo__2021-12-02_Jiang-Argo__Medical history 2021-11-08 to 2021-11-09.pdf]]"
- "[[argo_exams.pdf]]"
---
# VCA West Los Angeles — Emergency Visit

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documents/argo/2021-11-24 VCA Brentwood - Well Patient Exam.md
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provider: VCA Brentwood Animal Hospital
location: West Los Angeles, CA
total: $189.35
source: "[[originals/argo_exams.pdf]]"
source: "[[argo_exams.pdf]]"
---
# VCA Brentwood Animal Hospital — Invoice

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documents/argo/2025-09-30 Shane Vet - Geriatric Blood Panel.md
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type: lab-results
provider: Shane Veterinary Hospital
location: Marina del Rey, CA
source: "[[originals/ARGO-JIANG-2025-09-30-1534.pdf]]"
source: "[[ARGO-JIANG-2025-09-30-1534.pdf]]"
---
# Shane Veterinary Hospital — Geriatric Screen with FT4ED Select

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documents/argo/2025-10-03 Shane Vet - Kidney Diet Prescription.md
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type: prescription
provider: Dr. Shane's Veterinary Medical Center
location: Marina del Rey, CA
source: "[[originals/argo_prescription.jpg]]"
source: "[[argo_prescription.jpg]]"
---
# Dr. Shane's Veterinary Medical Center — Kidney Diet Prescription

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documents/medical/Progyny Fertility Exclusive Treatment Codes List.md Normal file
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---
type: reference
category: treatment_codes
person:
date:
provider: Progyny
source: Progyny Fertility Exclusive Treatment Codes List.pdf
---
# Progyny Fertility Exclusive Treatment Codes List
We request that claims administrators discontinue approval for the following **fertility exclusive treatment codes**. Claims submitted with the CPT codes listed below should be approved only when submitted by Progyny. *Rejection edit may say, "Member to use their fertility and family building benefit, Progyny. Please call a Patient Care Advocate at:* 844-734-8366 *to learn more.*
## Treatment Codes
| Code | Description |
|---|---|
| S4016 | Frozen In Vitro Fertilization Cycle, Case Rate |
| S4011 | In vitro fertilization; including but not limited to identification and incubation of mature oocytes, fertilization with sperm, incubation of embryo(s), and subsequent visualization for determination of development |
| S4037 | Cryopreserved embryo transfer, case rate |
| S4013 | Complete cycle, gamete intrafallopian transfer (GIFT), case rate |
| S4014 | Complete cycle, zygote intrafallopian transfer (ZIFT), case rate |
| S4015 | Complete in vitro fertilization cycle, not otherwise specified, case rate |
| S4016 | Frozen in vitro fertilization cycle, case rate |
| S4017 | Incomplete cycle, treatment cancelled prior to stimulation, case rate |
| S4021 | In vitro fertilization procedure cancelled after aspiration, case rate |
| S4023 | Donor egg cycle, incomplete, case rate |
| S4025 | Donor services for in vitro fertilization (sperm or embryo), case rate |
| S4030 | Sperm procurement and cryopreservation services; initial visit |
| S4031 | Sperm procurement and cryopreservation services; subsequent visit |
| S4035 | Stimulated intrauterine insemination (IUI), case rate |
| S4018 | Frozen embryo transfer procedure cancelled before transfer, case rate |
| S4020 | In vitro fertilization procedure cancelled before aspiration, case rate |
| S4022 | Assisted oocyte fertilization, case rate |
| S4026 | Procurement of donor sperm from sperm bank |
| S4027 | Storage of previously frozen embryos |
| S4040 | Monitoring and storage of cryopreserved embryos, per 30 days |
| S4042 | Management of ovulation induction (interpretation of diagnostic tests and studies, non-face-to-face medical management of the patient), per cycle |
| 58322 | Artificial Insemination - Intrauterine |
| 58970 | Abdominal or endoscopic aspiration of eggs from ovaries |
| 58974 | Injection of embryo(s) into uterus |
| 89253 | Assisted embryo hatching, microtechniques (any method) |
| 89261 | Sperm Isolation |
| 89268 | Insemination of Oocytes |
| 89272 | Extended cultures of Oocytes (4-7 days). Embryo culture lab. |
| 89280 | ICSI - Assisted oocyte Fertilization, Microtechnique (Less than 10 oocytes) |
| 89281 | ICSI - Assisted oocyte Fertilization, Microtechnique (Greater than 10 oocytes) |
| 89337 | Cryopreservation; oocytes |
| 89342 | Storage, (per year); embryo(s) |
| 89346 | Storage (one year); oocytes |
| 89250 | Culture and fertilization of oocyte(s); with co-culture of embryos |
| 89251 | Culture of oocyte(s)/embryo(s), less than 4 days |
| 58321 | Artificial insemination; intra-cervical |
| 58976 | Gamete, zygote, or embryo intrafallopian transfer, any method |
| 89252 | Assisted oocyte fertilization, microtechnique (any method) |
---
*\*Please note that all Progyny claims should be paid/processed at billed charges.*

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---
type: vaccination-record
category: covid-19
person: Erica Jiang
date: 2021-04-10
provider: LAFD USC
source: erica-covid-vaccine.pdf
---
# COVID-19 Vaccination Record Card
| Field | Value |
|---|---|
| **Last Name** | Jiang |
| **First Name** | Erica |
| **MI** | |
| **Date of Birth** | 03/13/1993 |
| **Patient Number** | |
## Vaccination Details
| | 1st Dose COVID-19 | 2nd Dose COVID-19 |
|---|---|---|
| **Product Name/Manufacturer** | Pfizer | Pfizer |
| **Lot Number** | ER8329 | EW0171 |
| **Date** | 04/10/2021 | |
| **Healthcare Professional / Clinic Site** | LAFD USC | LAFO - USC |
## Reminder (Back of Card)
| Field | Value |
|---|---|
| **Vaccine** | COVID-19 vaccine |
| **Return Date (2nd Dose)** | 04/27/21 |
## Notes
- The 2nd dose date field on the front of the card is not clearly filled in. The back of the card indicates a return date of 04/27/21 for the 2nd dose.
- The 2nd dose clinic site appears to read "LAFO - USC" (handwriting is difficult to parse; may be the same site as the 1st dose, LAFD USC).

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---
type: vaccination-record
category: covid-19
person: Yanxin Lu
date: 2021-04-15
provider: Forum
source: lu-covid-vaccine.pdf
---
# COVID-19 Vaccination Record Card
| Field | Value |
|---|---|
| **Last Name** | Lu |
| **First Name** | Yanxin |
| **MI** | |
| **Date of Birth** | 10/17/1989 |
| **Patient Number** | |
## Vaccination Details
| | 1st Dose COVID-19 | 2nd Dose COVID-19 |
|---|---|---|
| **Product Name/Manufacturer** | Pfizer | Pfizer |
| **Lot Number** | EW0161 | EW0173 |
| **Expiration** | 07/31/2021 | 08/31/2021 |
| **Date** | 04/15/2021 | 05/06/2021 |
| **Healthcare Professional / Clinic Site** | Forum | Forum |
## Reminder (Back of Card)
| Field | Value |
|---|---|
| **Vaccine** | Pfizer |
| **Return Date (2nd Dose)** | 05/06/21 |
## Notes
- Two physical cards are present in the PDF (pages 1-2 and pages 3-4). Both belong to the same person and contain consistent information.
- Card 1 (page 1) shows the 1st dose entry; the back (page 2) shows the 2nd dose reminder date of 05/06/21 and a Pfizer vaccine sticker.
- Card 2 (page 3) shows both 1st and 2nd dose entries filled in; the back (page 4) shows a Pfizer vaccine sticker with blank reminder date fields.

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---
type: prescription
category: eye
person: Xuewei Jiang
date: 2021-11-17
provider: Maylin Gonzalez, OD — Eyed LA Optometry
source: jiang_LA_2021.pdf
---
# Eyeglass Rx — Xuewei Jiang — 11/17/2021
## Provider
- **Practice:** Eyed LA Optometry
- **Doctor:** Maylin Gonzalez, OD
- **License #:** 14297
- **Address:** 1150 18th Street suite 103, Santa Monica CA 90403
- **Phone:** (424) 208-3107
## Patient Information
- **Patient:** Xuewei Jiang
- **DOB:** 03/13/1993
- **Address:** 11950 Idaho Ave. apt. 113, Los Angeles CA 90025
## Exam Details
- **Date:** 11/17/2021
- **Expires:** 11/17/2023
- **Rx #:** 168263508
## Rx Details
| | Sphere | Cyl | Axis | Near Add | Int Add | H Prism | V Prism |
|----|--------|-------|------|----------|---------|---------|---------|
| OD | -3.25 | | | | | | |
| OS | -3.25 | -0.25 | 098 | | | | |
- **Distance PD:** 58.0
## Special Instructions and Recommendations
| Feature | Value |
|----------------|---------------|
| Material | Polycarbonate |
| Tint | |
| AR Coating | Yes |
| Photochromic | |
| UV Treatment | Yes |
| Polarized | |
| LensType | |
| Instructions | |
Signed: Maylin Gonzalez, OD

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---
type: prescription
category: eye
person: Xuewei Jiang
date: 2024-12-30
provider: Domenico M. Rinaldi, O.D. — Marina Del Rey Optometry
source: jiang_eye_exam_12-2024.pdf
---
# Eye Exam Prescription — Xuewei Jiang — 12/30/2024
## Provider
- **Practice:** Marina Del Rey Optometry
- **Address:** 4266 Lincoln Blvd., Marina Del Rey, CA 902925618
- **Phone:** (310) 823-4595
- **Fax:** (310) 823-4598
- **Website:** www.marinadelreyoptometry.com
- **Doctor:** Domenico M. Rinaldi, O.D.
- **LIC#:** 34194 TLG
## Patient Information
- **Patient Name:** Xuewei Jiang
- **Address:** 12421 Sanford St, Los Angeles, CA 90066
- **Date of Birth:** 03/13/1993
## Exam Details
- **Exam Date:** 12/30/2024
- **Print Date:** 12/30/2024
- **Expires:** 12/30/2026
- **Type:** Final Rx
- **Use:** Continual
## Prescription
| | Sphere | Cyl | Axis | Prism | PD |
|-------|--------|-----|------|-------|----|
| OD | -3.25 | | | | |
| OS | -3.50 | | | | |
| ADD | |
|-----|-----|
| OD | |
| OS | |
## Recommendations
- Single Vision
- Crizal Rock (non glare)
- Polycarbonate

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---
type: prescription
category: eye
person: Xuewei Jiang
date: 2025-12-29
provider: Domenico M. Rinaldi, O.D. — Marina Del Rey Optometry
source: jiang_eye_exam_12-2025.HEIC
---
# Eye Exam Prescription — Xuewei Jiang — 12/29/2025
## Provider
- **Practice:** Marina Del Rey Optometry
- **Address:** 4266 Lincoln Blvd., Marina Del Rey, CA 902925618
- **Phone:** (310) 823-4595
- **Fax:** (310) 823-4598
- **Website:** www.marinadelreyoptometry.com
- **Doctor:** Domenico M. Rinaldi, O.D.
- **LIC#:** 34194 TLG
## Patient Information
- **Patient Name:** Xuewei Jiang
- **Address:** 12421 Sanford St, Los Angeles, CA 90066
- **Date of Birth:** 03/13/1993
## Exam Details
- **Exam Date:** 12/29/2025
- **Print Date:** 12/29/2025
- **Expires:** 12/29/2027
- **Type:** Final Rx
- **Use:** Continual
## Prescription
| | Sphere | Cyl | Axis | Prism | PD |
|-------|--------|-----|------|-------|----|
| OD | -3.25 | | | | |
| OS | -3.50 | | | | |
| ADD | |
|-----|-----|
| OD | |
| OS | |
## Recommendations
- Single Vision
- Crizal Rock (non glare)
- Polycarbonate

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---
type: receipt
category: eye
person: Xuewei Jiang
date: 2025-12-29
provider: Del Rey Optometry
source: jiang_eye_exam_receipt2_12-2025.HEIC
---
# Credit Card Receipt — Xuewei Jiang — 12/29/2025
## Store Information
- **Store:** T010 Del Rey Optometry
- **Address:** 4266 Lincoln Boulevard, Marina del Rey, CA 90292
- **Phone:** (310) 823-4595
- **Date/Time:** 2025-12-29 10:09 AM
## Transaction Details
| Field | Value |
|-------|-------|
| Account # | ************7357 |
| Card Brand | VISA |
| Type | SALE |
| Entry | SWIPE |
| Approval code | 603071 |
| MID | MUtka9mjqXbXZbGHJQpbTCXv |
| TID | TRjfWamaJ2wgk8RgDCzzxMkV |
| DID | DV6MauJjs1BEXPzmaPoZYDa |
## Result
**SUCCEEDED**
ARQC
## Amount
| | |
|---|---|
| AMOUNT | $30.00 |
| =TOTAL | $30.00 |
> I agree to pay the above total amount according to the card issuer agreement
*Thank You — Cardholder Copy*

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---
type: receipt
category: eye
person: Xuewei Jiang
date: 2025-12-29
provider: Del Rey Optometry Marina Del Rey
source: jiang_eye_exam_receipt_12-2025.HEIC
---
# Eye Exam Receipt — Xuewei Jiang — 12/29/2025
## Store Information
- **Store:** Del Rey Optometry Marina Del Rey 10
- **Address:** 4266 Lincoln Blvd., Marina Del Rey, CA 90252-5618, United States
- **Phone:** 310-823-4595
## Receipt Details
- **Receipt #:** 3010062
- **Date:** 12/29/25 @ 10:10 AM
- **Store:** 29010 | Register: 3
- **Cashier:** Paola 330031
- **Salesperson:** 330031 (Paola)
- **Order For:** Xuewei (Erica) Jiang
- **Sales Order:** 10122841429010
## Line Items
| Item | Qty | Price | Amount |
|------|-----|-------|--------|
| 92015 Refraction (20500001669638) | 1 | 59.00 | 17.90 |
| 4321-INSURANCE DISCOUNT | | | (41.10) |
| Sales Order 10122841429010 [Doctor Service Addon] | | | |
| Optomap (20500001865028) | 1 | 29.00 | 20.00 |
| 4321-INSURANCE DISCOUNT | | | (19.00) |
| Sales Order 10122841429010 [Doctor Service Addon] | | | |
| 92014 Est Comprehensive (20500001982051) | 1 | 159.00 | 71.60 |
| 4321-INSURANCE DISCOUNT | | | (87.40) |
| Sales Order 10122841429010 [Doctor Service] | | | |
| ADD-ON ONLY PACKAGE ARTICLE | | | |
## Totals
| | Amount |
|---|--------|
| Subtotal | 109.50 |
| Tax | 0.00 |
| **Total** | **109.50** |
## Payment
| | Amount |
|---|--------|
| Assignment Vision Care (10122841429010) | 79.50 |
| Visa 7257 | 30.00 |
| Auth #: | |
| Transaction Type: Sale | |
| Entry Method: Keyed | |
| Auth Time: 10:10 AM | |
| **Change** | **0.00** |
## Notes
> Guarantee: Our goal is 100% satisfaction! If you're not completely satisfied with your purchase within the first 30 days, just let us know. We're committed to making it right.
Total Item(s) purchased: 3
*Customer Copy*

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---
type: eye exam record
category: eye
person: Yanxin Lu
date: 2017-09-14
provider: Dr. Catherine Park, O.D.
source: lu_Austin_2017.pdf
---
# Eye Exam Record — Yanxin Lu — 09/14/2017
**Patient:** Lu, Yanxin
**DOB:** 10/17/1989
**Electronically signed by:** Dr. Park, Catherine — 09/14/2017
**Electronic Signature:** Electronically Signed By: Catherine Park O.D. on 09/17/2017 09:05 AM
---
## Page 1 of 4
### Current Glasses Rx
| | Sphere | Cyl | Axis |
|----------|--------|-------|------|
| OD | -5.50 | -0.75 | 047 |
| OS | -5.25 | -1.00 | 138 |
| Visual Acuity | OD | OS | OU |
|---------------|-------|-------|-------|
| DVA | 20/25 | 20/25 | 20/20 |
| NVA | | | 20/20 |
### Current Glasses Rx2
- DVA:
- NVA:
### Auto Refraction
| | Sphere | Cyl | Axis |
|----------|--------|-------|------|
| OD | -5.75 | -1.50 | 031 |
| OS | -5.50 | -2.00 | 139 |
- DVA:
- NVA:
### Manifest Refraction
| | Sphere | Cyl | Axis |
|----------|--------|-------|------|
| OD | -5.50 | -1.25 | 030 |
| OS | -5.50 | -1.75 | 145 |
| Visual Acuity | OD | OS | OU |
|---------------|-------|-------|-------|
| DVA | 20/20 | 20/20 | 20/20 |
| NVA | 20/20 | 20/20 | 20/20 |
### CL Trial Rx
*(empty)*
### IOP
- **Date/Time:** 9/14/2017 4:25:28 PM
- **IOP OD:** 10
- **IOP OS:** 10
- **Test:** Digital
### K-Readings
| Eye | Flat | Axis | Steep | Axis |
|-----|-------|------|-------|------|
| OD | 43.00 | 028 | 44.50 | 118 |
| OS | 43.00 | 155 | 44.50 | 065 |
### Other Measurements
- **Dist IPD:** 67.0
- **Diagnosis Code:** H52.223
- **Procedure Code:** 92015
### Rx Summary Table
| Type | Notes | Brand OD | Sphere OD | Cylinder OD | Axis OD | DVA OD | NVA OD | Brand OS | Sphere OS | Cylinder OS | Axis OS | DVA OS | NVA OS |
|------|-------|----------|-----------|-------------|---------|--------|--------|----------|-----------|-------------|---------|--------|--------|
| Presenting Spec Rx | | | -5.50 | -0.75 | 047 | 20/25 | | | -5.25 | -1.00 | 138 | 20/25 | |
| Auto Refraction | | | -5.75 | -1.50 | 031 | | | | -5.50 | -2.00 | 139 | | |
| Manifest Refraction | | | -5.50 | -1.25 | 030 | 20/20 | 20/20 | | -5.50 | -1.75 | 145 | 20/20 | 20/20 |
| Final Spec Rx | Crizal AR | | -5.50 | -1.25 | 030 | 20/20 | 20/20 | | -5.50 | -1.75 | 145 | 20/20 | 20/20 |
---
### Reason for Visit
- **EXAMINATION:** Eye Examination~Glasses examination
- **Last examination:** 3-4 years ago
- **OCCUPATION:** Student — Rice University
### Chief Complaint
*(listed but no specific complaint text provided)*
---
## Page 2 of 4
### History of Present Illness (HPI)
HISTORY OF PRESENT ILLNESS: No complaints reported of physical ocular symptoms. Not experiencing routine headaches or double vision. No reports of visual floaters below.
VISION COMPLAINT: Vision may have changed. Difficulties are not problematic.
### Patient History
- **OCULAR HISTORY:** Eye Turn.
- **MEDICAL HISTORY:** No pertinent past medical history exists.
- **SYSTEMIC FAMILY HISTORY:** Family medical history is reported to be unremarkable.
- **OCULAR SURGICAL HISTORY:** No pertinent past ocular surgical history exists.
- **OCULAR FAMILY HISTORY:** Family ocular history is reported to be unremarkable.
- **SYSTEMIC MEDICATIONS:** No reported systemic medications. No known systemic medication allergies.
- **SOCIAL HISTORY:** No reported use of tobacco, alcohol or narcotics.
### Review of Systems
REVIEW OF SYSTEMS: No reported disorders or current medical treatment of: Allergy, Cardiovascular, Constitutional, Ears/nose/mouth/throat, Endocrine, Gastrointestinal, Immunologic, Integumentary/Skin, Musculoskeletal, Neurologic, Psychiatric, Respiratory (Unless noted otherwise above)
### Vision
- **PRESENTING SPECTACLE Rx OBSERVATIONS:** RX current gl SV
- **SUBJECTIVE RESPONSES OBSERVATIONS:** Trial frame confirmed clear and comfortable vision.
---
## Page 3 of 4
### Examination
- **DILATION ORDERS:** Patient denied dilation. Patient denied Optomap.
- **CONFRONTATION FIELDS OBSERVATIONS:** Fields were found to be full in all quadrants, OD. Fields were found to be full in all quadrants, OS.
- **POSTERIOR SEGMENT:** Vitreous body clear for age and fully attached. Nerve head well perfused, with good rim tissue. Healthy macula with no edema or degenerative changes. Unless otherwise noted below.
- **DISPOSITION:** Patient is pleasant and sociable.
- **ORIENTATION:** Patient is fully alert to time, place and person.
### Impressions
- **IMPRESSION/REFRACTION:** Myopia, Astigmatism
### Plan
- **PRINTED SPEC Rx:** 09/14/2017 16:52
- **SPECTACLE PLAN:** Adaptation to Rx expected. Rec AR, impact resistance lenses, UV protection.
- Current spec Rx from China. Gave full Rx today (seemed ok with the increase using trial frame). Discussed prism and dem'd in office with LL prism. Pt noticed prism helped.
---
## Page 4 of 4
### Patient Management
- **COUNSELING / EDUCATION:** Patient has been advised to return to clinic ASAP if experiencing any of the following eye symptoms: redness, pain, discharge or vision loss. Importance of dilation as well as the side effects of dilation. I have verbally discussed my clinical findings and recommendations in detail with this patient. The patient does to call or RTC for any concerns and/or questions.
- **ORDERS:** Schedule on or about: Examination: Annual Eye Examination. Timeline: 120090601.
### Diagnosis
- Myopia, bilateral — H52.13
- Regular astigmatism, bilateral — H52.223
### Procedure
- Exam Comp. New
- Current Tobacco Non-user
- Exam Refraction New Patient
### Addendum
*(empty)*

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---
type: prescription
category: eye
person: Yanxin Lu
date: 2022-07-05
provider: Bijan Cohenmehr, O.D.
source: lu_LA_2022.jpg
---
# Eye Exam Prescription — Yanxin Lu — 7/5/22
## Provider
- **Doctor:** Bijan Cohenmehr, O.D.
- **Address:** 12222 Wilshire Blvd., Suite 105, Los Angeles, CA 90025
- **Tel:** (310) 828-2010
- **Fax:** (424) 832-3712
- **Lic. #:** 10047T
## Patient Information
- **Rx for:** Lu, Yanxin
- **Date:** 7/5/22
## Prescription
| | Sphere | Cylinder | Axis | Doc | Prism | Base |
|------|--------|----------|------|-----|-------|------|
| OD (DIST) | -5.50 | -1.75 | 35 | | | |
| OS (DIST) | -5.50 | -1.25 | 148 | | | |
| ADD | |
|-----|---|
| R | |
| L | |
| Bifocal | | |
|---------|---|---|
| TYPE | SEG. SIZE | SEG. POSITION |
| | | |
## PD
| DIST | NEAR |
|------|------|
| 66 | |
## Tint
*(empty)*
## Remarks
- 2nd Pair:
- IMPACT RESISTANT, MUST MEET Z-80 STANDARDS. VOID IF ALTERED. VALID FOR 1 YEAR FROM ABOVE DATE.
## Notes
> FILLING THIS PRESCRIPTION CONSTITUTES AN AGREEMENT TO RE-MAKE LENSES AT MY DIRECTION FOR A PERIOD OF NINETY (90) DAYS WITHOUT FURTHER CHARGE TO ME OR MY PATIENT.
> -NOT FOR CONTACT LENSES.

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---
type: prescription
category: eye
person: Yanxin Lu
date: 2022-07-05
provider: Bijan Cohenmehr, O.D.
source: lu_LA_2022_modified.jpg
---
# Eye Exam Prescription — Yanxin Lu — 7/5/22
## Provider
- **Doctor:** Bijan Cohenmehr, O.D.
- **Address:** 12222 Wilshire Blvd., Suite 105, Los Angeles, CA 90025
- **Tel:** (310) 828-2010
- **Fax:** (424) 832-3712
- **Lic. #:** 10047T
## Patient Information
- **Rx for:** Lu, Yanxin
- **Date:** 7/5/22
## Prescription
| | Sphere | Cylinder | Axis | Doc | Prism | Base |
|------|--------|----------|------|-----|-------|------|
| OD (DIST) | -5.50 | -1.25 | 35 | | | |
| OS (DIST) | -5.50 | -1.25 | 148 | | | |
| ADD | |
|-----|---|
| R | |
| L | |
| Bifocal | | |
|---------|---|---|
| TYPE | SEG. SIZE | SEG. POSITION |
| | | |
## PD
| DIST | NEAR |
|------|------|
| 66 | |
## Tint
*(empty)*
## Remarks
- 2nd Pair:
- IMPACT RESISTANT, MUST MEET Z-80 STANDARDS. VOID IF ALTERED. VALID FOR 1 YEAR FROM ABOVE DATE.
## Notes
> FILLING THIS PRESCRIPTION CONSTITUTES AN AGREEMENT TO RE-MAKE LENSES AT MY DIRECTION FOR A PERIOD OF NINETY (90) DAYS WITHOUT FURTHER CHARGE TO ME OR MY PATIENT.
> -NOT FOR CONTACT LENSES.

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---
type: prescription
category: eye
person: Yanxin Lu
date: 2024-12-30
provider: Domenico M. Rinaldi, O.D. — Marina Del Rey Optometry
source: lu_eye_exam_12-2024.pdf
---
# Eye Exam Prescription — Yanxin Lu — 12/30/2024
## Provider
- **Practice:** Marina Del Rey Optometry
- **Address:** 4266 Lincoln Blvd., Marina Del Rey, CA 902925618
- **Phone:** (310) 823-4595
- **Fax:** (310) 823-4598
- **Website:** www.marinadelreyoptometry.com
- **Doctor:** Domenico M. Rinaldi, O.D.
- **LIC#:** 34194 TLG
## Patient Information
- **Patient Name:** Yanxin Lu
- **Address:** 12421 Sanford St, Los Angeles, CA 90066
- **Date of Birth:** 10/17/1989
## Exam Details
- **Exam Date:** 12/30/2024
- **Print Date:** 12/30/2024
- **Expires:** 12/30/2026
- **Type:** Final Rx
- **Use:** Continual
## Prescription
| | Sphere | Cyl | Axis | Prism | PD |
|-------|--------|-------|------|-------|----|
| OD | -5.50 | -1.25 | 31 | | |
| OS | -5.25 | -1.75 | 147 | | |
| ADD | |
|-----|-----|
| OD | |
| OS | |
## Recommendations
- Single Vision
- Crizal Rock (non glare)
- Hi Index

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---
type: prescription
category: eye
person: Yanxin Lu
date: 2025-12-29
provider: Domenico M. Rinaldi, O.D. — Marina Del Rey Optometry
source: lu_eye_exam_12-2025.HEIC
---
# Eye Exam Prescription — Yanxin Lu — 12/29/2025
## Provider
- **Practice:** Marina Del Rey Optometry
- **Address:** 4266 Lincoln Blvd., Marina Del Rey, CA 902925618
- **Phone:** (310) 823-4595
- **Fax:** (310) 823-4598
- **Website:** www.marinadelreyoptometry.com
- **Doctor:** Domenico M. Rinaldi, O.D.
- **LIC#:** 34194 TLG
## Patient Information
- **Patient Name:** Yanxin Lu
- **Address:** 12421 Sanford St, Los Angeles, CA 90066
- **Date of Birth:** 10/17/1989
## Exam Details
- **Exam Date:** 12/29/2025
- **Print Date:** 12/29/2025
- **Expires:** 12/29/2027
- **Type:** Final Rx
- **Use:** Continual
## Prescription
| | Sphere | Cyl | Axis | Prism | PD |
|-------|--------|-------|------|-------|----|
| OD | -5.25 | -1.75 | 31 | | |
| OS | -5.00 | -1.75 | 147 | | |
| ADD | |
|-----|-----|
| OD | |
| OS | |
## Recommendations
- Single Vision
- Crizal Rock (non glare)
- Hi Index

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---
type: receipt
category: eye
person: Yanxin Lu
date: 2025-12-29
provider: Del Rey Optometry
source: lu_eye_exam_receipt2_12-2025.HEIC
---
# Credit Card Receipt — Yanxin Lu — 12/29/2025
## Store Information
- **Store:** T010 Del Rey Optometry
- **Address:** 4266 Lincoln Boulevard, Marina del Rey, CA 90292
- **Phone:** (310) 823-4595
- **Date/Time:** 2025 12 29 10:08 AM
## Transaction Details
| Field | Value |
|-------|-------|
| Card Type | MASTERCARD |
| AID | A0000000041010 |
| Account # | ************4800 |
| Card Brand | MASTERCARD |
| Type | SALE |
| Entry | CONTACTLESS |
| Approval code | 07156P |
| MID | MUtka9mjqXbXZbGHJQpbTCXv |
| TID | TRbsoccxm8E1pv81U7CyibD |
| DID | DV6MauJjs1BEXPzmaPoZYDa |
## Result
**SUCCEEDED**
ARQC FC15B86E8424104A
## Amount
| | |
|---|---|
| AMOUNT | $10.00 |
| =TOTAL | $10.00 |
> I agree to pay the above total amount according to the card issuer agreement
*Thank You — Cardholder Copy*

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---
type: receipt
category: eye
person: Yanxin Lu
date: 2025-12-29
provider: Del Rey Optometry Marina Del Rey
source: lu_eye_exam_receipt_12-2025.HEIC
---
# Eye Exam Receipt — Yanxin Lu — 12/29/2025
## Store Information
- **Store:** Del Rey Optometry Marina Del Rey 10
- **Address:** 4266 Lincoln Blvd., Marina Del Rey, CA 90292-5618, United States
- **Phone:** 310-823-4595
## Receipt Details
- **Receipt #:** 3010061
- **Date:** 12/29/25 @ 10:08 AM
- **Store:** 29010 | Register: 3
- **Cashier:** Paola 330031
- **Salesperson:** 330031 (Paola)
- **Order For:** Yanxin Lu
- **Sales Order:** 10122847829010
## Line Items
| Item | Qty | Price | Amount |
|------|-----|-------|--------|
| 92015 Refraction (20500001669638) | 1 | 59.00 | 17.90 |
| 4321-INSURANCE DISCOUNT | | | (41.10) |
| Sales Order 10122847829010 [Doctor Service Addon] | | | |
| Optomap (20500001862528) | 1 | 39.00 | 0.00 |
| 4321-INSURANCE DISCOUNT | | | (39.00) |
| Sales Order 10122847829010 [Doctor Service Addon] | | | |
| 92014 Est Comprehensive (20500001985201) | 1 | 159.00 | 71.60 |
| 4321-INSURANCE DISCOUNT | | | (87.40) |
| Sales Order 10122847829010 [Doctor Service] | | | |
| ADD-ON ONLY PACKAGE ARTICLE | | | |
## Totals
| | Amount |
|---|--------|
| Subtotal | 89.50 |
| Tax | 0.00 |
| **Total** | **89.50** |
## Payment
| | Amount |
|---|--------|
| Assignment Vision Care (10122847829010) | 79.50 |
| MasterCard 4800 | 10.00 |
| Auth #: | |
| Transaction Type: Sale | |
| Entry Method: Keyed | |
| Auth Time: 10:08 AM | |
| **Change** | **0.00** |
## Notes
> Guarantee: Our goal is 100% satisfaction! If you're not completely satisfied with your purchase within the first 30 days, just let us know. We're committed to making it right.
Total Item(s) purchased: 3
*Customer Copy*

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---
type: identification
category: driver-license
person: Jiang, Xuewei
date: 2021-07-29
source: jiang_dl_ca.jpg
---
# California Driver License - Xuewei Jiang
| Field | Value |
|-------|-------|
| State | California, USA |
| Document Type | DRIVER LICENSE |
| DL Number | Y1661483 |
| Class | C |
| Type | LIMITED-TERM |
| END NONE | |
| EXP | 03/13/2026 |
| Last Name (LN) | JIANG |
| First Name (FN) | XUEWEI |
| Address | 11950 IDAHO AVE APT 113, LOS ANGELES, CA 90025 |
| DOB | 03/13/1993 |
| RSTR | CORR LENS |
| SEX | F |
| HGT | 5'-06" |
| HAIR | BLK |
| WGT | 145 lb |
| EYES | BRN |
| DD | 07/29/2021616E8/ |
| ISS | 03131993 |
Scanned by TapScanner

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---
type: lab-results
category: fertility-workup
person: Jiang, Erica (Xuewei)
date: 2021-09-15
provider: Candice B. Tilles, MD
source: jiang_exams_2021.pdf
---
# Exams 2021 - Erica Jiang
**Patient:** Erica Jiang | **DOB:** 3/13/1993 | **MRN:** 20018501333 | **PCP:** Elizabeth Spence, DO
**Source:** MyChart - Test Details (mychartor.providence.org)
---
## Provider Message
**Candice B. Tilles, MD** - 09/24/2021, 12:58 PM
> Hi Erica,
>
> Your hormone levels were normal and your titers show that you are immune to measles, rubella and chicken pox. You have good ovarian reserve based on he Anti-mullerian Hormone level. The genetic carrier screening is still pending. Please contact me if you have any questions.
>
> Dr. Tilles
---
## ANTI-MULLERIAN HORMONE
**Collected on:** Sep 15, 2021 2:09 PM
| Test | Value | Unit | Reference Range |
|------|-------|------|-----------------|
| Antimullerian Hormone (AMH) | 2.50 | ng/mL | Females 26-30y: 1.03 - 11.10 (Median 4.20) |
**Performed at:** 01 - Esoterix Inc, 4301 Lost Hills Road, Calabasas Hills, CA 913015358
**Lab Director:** Brian Poirier MD, Phone: 8004449111
For assays employing antibodies, the possibility exists for interference by heterophile antibodies in the samples.
1. Kricka L. Interferences in Immunoassays - still a threat. Clin. Chem. 2000; 46: 1037-1038.
This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.
AMH concentrations of >= 1.06 ng/mL is correlated with a better response to ovarian stimulation, produced more retrievable oocytes and higher odds of live birth according to Gleicher et al. Fertility and Sterility. 2010: 94:2824-2827. The current AMH test method correlates with the study method with a slope of 0.94.
Females at risk of ovarian hyperstimulation syndrome or polycystic ovarian syndrome (PCOS) may exhibit elevated serum AMH concentrations. AMH levels from PCOS patients may be 2 to 5 fold higher than age-appropriate reference interval values.
Granulosa cell tumors of the ovary may secrete AMH along with other tumor markers. Elevated AMH is not specific for malignancy, and the assay should not be used exclusively to diagnose or exclude an AMH-secreting ovarian tumor.
**Ordering provider:** Candice B. Tilles, MD
**Collection date:** Sep 15, 2021 2:09 PM
**Specimens:** Blood (Arm, Left)
**Result date:** Sep 18, 2021 5:05 PM
**Result status:** Final
**Resulting lab:** REFERENCE LAB LABCORP - BKR, 13112 Evening Creek Drive South, San Diego CA 92128, 858-668-3700
**Lab director:** Jenny Galloway, MD
---
## CBC W/DIFFERENTIAL
**Collected on:** Sep 15, 2021 2:09 PM
**Performed at:** 01 - LabCorp San Diego, 13112 Evening Creek Dr So Ste 200, San Diego, CA 921284108
**Lab Director:** Jenny Galloway MD, Phone: 8586683700
| Test | Value | Unit | Normal Range |
|------|-------|------|--------------|
| WBC | 4 | x10E3/uL | 3.4 - 10.8 |
| Red Blood Cells | 4.31 | x10E6/uL | 3.77 - 5.28 |
| Hemoglobin | 13.2 | g/dL | 11.1 - 15.9 |
| Hct | 41.8 | % | 34.0 - 46.6 |
| MCV | 97 | fL | 79 - 97 |
| MCH | 30.6 | pg | 26.6 - 33.0 |
| MCHC | 31.6 | g/dL | 31.5 - 35.7 |
| RDW | 11.9 | % | 11.7 - 15.4 |
| Platelet Count | 227 | x10E3/uL | 150 - 450 |
| % Neutrophils | 38 | % | Not Estab. |
| % Lymphocytes | 52 | % | Not Estab. |
| % Monocytes | 8 | % | Not Estab. |
| % Eosinophils | 1 | % | Not Estab. |
| % Basophils | 1 | % | Not Estab. |
| Absolute Neutrophils | 1.5 | x10E3/uL | 1.4 - 7.0 |
| Absolute Lymphocytes | 2.1 | x10E3/uL | 0.7 - 3.1 |
| Absolute Monocytes | 0.3 | x10E3/uL | 0.1 - 0.9 |
| Absolute Eosinophils | 0 | x10E3/uL | 0.0 - 0.4 |
| Absolute Basophils | 0 | x10E3/uL | 0.0 - 0.2 |
| % Immature Granulocytes | 0 | % | Not Estab. |
| Absolute Immature Granulocytes | 0 | x10E3/uL | 0.0 - 0.1 |
**Ordering provider:** Candice B. Tilles, MD
**Collection date:** Sep 15, 2021 2:09 PM
**Specimens:** Blood (Arm, Left)
**Result date:** Sep 20, 2021 2:06 PM
**Result status:** Final
**Resulting lab:** REFERENCE LAB LABCORP - BKR, 13112 Evening Creek Drive South, San Diego CA 92128, 858-668-3700
**Lab director:** Jenny Galloway, MD
---
## ESTRADIOL
**Collected on:** Sep 15, 2021 2:09 PM
| Test | Value | Unit | Reference Range |
|------|-------|------|-----------------|
| Estradiol | 48.2 | pg/mL | See Comment |
Estradiol Female Premenopausal Reference Range: 21.8-693.1 pg/mL
Estradiol Female Postmenopausal Reference Range: 32.1-73.1 pg/mL
**Ordering provider:** Candice B. Tilles, MD
**Collection date:** Sep 15, 2021 2:09 PM
**Specimens:** Blood (Arm, Left)
**Result date:** Sep 15, 2021 7:50 PM
**Result status:** Final
**Resulting lab:** CA PJNF WOMENS HEALTH SM LAB (CLIA 05D0550213), 2001 SANTA MONICA BLVD STE 970W, SANTA MONICA CA 90404-2199, 310-829-7878
**Lab director:** Jon S. Matsunaga, MD
**CLIA #:** 05D0550213
---
## Free T4
**Collected on:** Sep 15, 2021 2:09 PM
| Test | Value | Unit | Normal Range |
|------|-------|------|--------------|
| FT4 | 1.18 | ng/dL | 0.75 - 1.54 |
**Ordering provider:** Candice B. Tilles, MD
**Collection date:** Sep 15, 2021 2:09 PM
**Specimens:** Blood (Arm, Left)
**Result date:** Sep 15, 2021 7:50 PM
**Result status:** Final
**Resulting lab:** CA PJNF WOMENS HEALTH SM LAB (CLIA 05D0550213), 2001 SANTA MONICA BLVD STE 970W, SANTA MONICA CA 90404-2199, 310-829-7878
**Lab director:** Jon S. Matsunaga, MD
**CLIA #:** 05D0550213
---
## FSH - FOLLICLE STIMULATING HORMONE
**Collected on:** Sep 15, 2021 2:09 PM
| Test | Value | Unit | Reference Range |
|------|-------|------|-----------------|
| Follicle Stimulating Hormone | 9.0 | mIU/mL | See Comment |
FSH Female premenopausal reference range: 2.7-23.0 mIU/mL
FSH Female postmenopausal reference range: 25.0-160.0 mIU/mL
**Ordering provider:** Candice B. Tilles, MD
**Collection date:** Sep 15, 2021 2:09 PM
**Specimens:** Blood (Arm, Left)
**Result date:** Sep 15, 2021 7:50 PM
**Result status:** Final
**Resulting lab:** CA PJNF WOMENS HEALTH SM LAB (CLIA 05D0550213), 2001 SANTA MONICA BLVD STE 970W, SANTA MONICA CA 90404-2199, 310-829-7878
**Lab director:** Jon S. Matsunaga, MD
**CLIA #:** 05D0550213
---
## Glyco Hgb
**Collected on:** Sep 15, 2021 2:09 PM
**Performed at:** 01 - LabCorp San Diego, 13112 Evening Creek Dr So Ste 200, San Diego, CA 921284108
**Lab Director:** Jenny Galloway MD, Phone: 8586683700
| Test | Value | Unit | Normal Range |
|------|-------|------|--------------|
| Hemoglobin A1c | 5.3 | % | 4.8 - 5.6 |
| Estimated Average Glucose | 105 | mg/dL | - |
Prediabetes: 5.7 - 6.4
Diabetes: >6.4
Glycemic control for adults with diabetes: <7.0
**Ordering provider:** Candice B. Tilles, MD
**Collection date:** Sep 15, 2021 2:09 PM
**Specimens:** Blood (Arm, Left)
**Result date:** Sep 20, 2021 2:06 PM
**Result status:** Final
**Resulting lab:** REFERENCE LAB LABCORP - BKR, 13112 Evening Creek Drive South, San Diego CA 92128, 858-668-3700
**Lab director:** Jenny Galloway, MD
---
## Misc Referral - Inheritest Comprehensive (Genetic Carrier Screening)
**Collected on:** Sep 15, 2021 2:09 PM
### Provider Message
**Candice B. Tilles, MD** - 10/1/2021, 1:06 PM
> Hi Erica,
>
> Your carrier screening was negative for all mutations tested. Please contact me if you have any questions.
>
> Dr. Tilles
### Test Information
**Performed At:** 01 Esoterix Genetic Laboratories, 3400 Computer Drive Westborough, MA 015811771, Zhu Hui PhD Ph:8002557357
**Performed At:** 02 LabCorp San Diego, 13112 Evening Creek Dr So Ste 200 San Diego, CA 921284108, Galloway Jenny R MD Ph:8586683700
**Test Ordered:** 451950 Inheritest Comprehensive
**Specimen Type:** InheriTest Comment 01 - Whole Blood
**Ethnicity:** InheriTest Comment 01 - Not Provided
**Indication:** Comment 01 - not provided
### Comprehensive Result
| Disorder (Gene) | Results | Interpretation |
|-----------------|---------|----------------|
| Spinal Muscular Atrophy (SMN1) | NEGATIVE | 2 copies of SMN1; negative for c.*3+80T>G SNP. This result reduces, but does not eliminate the risk to be a carrier. For ethnic-specific risk revisions see Information Table. |
| Fragile X syndrome (FMR1) | PCR: 29 and 30 repeats | Negative: not a carrier of a fragile X expansion mutation. This result is not associated with fragile X syndrome. |
| All other disorders | Negative for the mutations analyzed | These results reduce, but do not eliminate, the chance to be a carrier. See Information Tables. |
### SMA Risk Reductions (Individuals with No Family History)
**Reference Sequence:** Spinal Muscular Atrophy (SMN1) NM_000344
| Population | Detection Rate | Pre-test carrier risk | Post-test risk of being a carrier (Copy risk with 2 copies + SNP) | Post-test risk POSITIVE for c.*3+80T>G SNP | Post-test risk NEGATIVE with 3 copies for the c.*3+80T>G SNP |
|------------|---------------|----------------------|-------|-------|-------|
| African American | 90.3% | 1 in 72 | 1 in 34 | 1 in 375 | 1 in 4200 |
| Asian | 93.6% | 1 in 59 | High risk | 1 in 907 | 1 in 5600 |
| Caucasian | 95.0% | 1 in 47 | 1 in 29 | 1 in 921 | 1 in 5600 |
| Hispanic | 92.6% | 1 in 68 | 1 in 140 | 1 in 906 | 1 in 5400 |
Mixed or Other ethnic background: For counseling purposes, consider using the most conservative Background risk estimates.
** includes carriers who are silent carriers (2+0) and Carriers with a pathogenic variant not detected in this Assay
References: Feng, PMID 28125085; Lou, PMID 23788250; Sugarman, PMID 21811307
### Gene-Specific Risk Reductions (Individuals with No Family History)
| Disorder (Gene) | Reference Sequence | Population | Detection Rate | Pre-Test Carrier Risk | Post-Test Carrier Risk with Negative Result |
|-----------------|-------------------|------------|---------------|----------------------|---------------------------------------------|
| Abetalipoproteinemia (MTTP) | NM_000253 | Ashkenazi Jewish | N/A* | N/A | N/A |
| Adenosine deaminase deficiency (ADA) | NM_000022 | General | 42% | 1 in 289 | 1 in 497 |
| Alpha-mannosidosis (MAN2B1) | NM_000528 | Caucasian | 63% | 1 in 350 | 1 in 944 |
| Alpha-thalassemia (HBA1, HBA2) | 16p13.3 | African | 90% | 1 in 3 | N/A |
| Alpha-thalassemia (HBA1, HBA2) | 16p13.3 | American | 90% | 1 in 21 | N/A |
| Alpha-thalassemia (HBA1, HBA2) | 16p13.3 | Eastern Mediterranean | 90% | 1 in 5 | N/A |
| Alpha-thalassemia (HBA1, HBA2) | 16p13.3 | European | 90% | 1 in 44 | N/A |
| Alpha-thalassemia (HBA1, HBA2) | 16p13.3 | Southeast Asian | 90% | 1 in 2 | N/A |
| Alpha-thalassemia (HBA1, HBA2) | 16p13.3 | Western Pacific | 90% | 1 in 10 | N/A |
| Alport syndrome, COL4A3-related (COL4A3) | NM_000091 | Ashkenazi Jewish | 95% | 1 in 183 | 1 in 3640 |
| Andermann syndrome (SLC12A6) | NM_133647 | French Canadian | 99% | 1 in 23 | 1 in 2200 |
| Argininosuccinic aciduria (ASL) | NM_000048 | Finnish | 86% | 1 in 190 | 1 in 1350 |
| Argininosuccinic aciduria (ASL) | NM_000048 | Worldwide | 59% | 1 in 132 | 1 in 320 |
| Arthrogryposis, mental retardation, and seizures (AMRS) (SLC35A3) | NM_012243 | Ashkenazi Jewish | N/A* | N/A | N/A |
| Aspartylglucosaminuria (AGA) | NM_000027 | Finnish | 98% | 1 in 81 | 1 in 4000 |
| Ataxia with vitamin E deficiency (TTPA) | NM_000370 | Italian | 80% | N/A* | N/A |
| Ataxia with vitamin E deficiency (TTPA) | NM_000370 | North African | 99% | N/A* | N/A |
| Ataxia-telangiectasia (ATM) | NM_000051 | Amish | 99% | N/A* | N/A |
| Ataxia-telangiectasia (ATM) | NM_000051 | Costa Rican | 56% | 1 in 100 | 1 in 226 |
| Ataxia-telangiectasia (ATM) | NM_000051 | North African Jewish | 97% | 1 in 81 | 1 in 2667 |
| Ataxia-telangiectasia (ATM) | NM_000051 | Norwegian | 55% | 1 in 197 | 1 in 436 |
| Ataxia-telangiectasia (ATM) | NM_000051 | Worldwide | 40% | 1 in 100 | 1 in 166 |
| Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) (SACS) | NM_014363 | French Canadian | 96% | 1 in 21 | 1 in 500 |
| Bardet-Biedl syndrome, BBS1-related (BBS1) | NM_024649 | Worldwide | 55% | 1 in 390 | 1 in 865 |
| Bardet-Biedl syndrome, BBS2-related (BBS2) | NM_031885 | Ashkenazi Jewish | N/A* | 1 in 136 | N/A |
| Bardet-Biedl syndrome, BBS10-related (BBS10) | NM_024685 | Worldwide | 45% | 1 in 418 | 1 in 759 |
| Beta hemoglobinopathy, beta thalassemias (HBB) | NM_000518 | African American | 90% | 1 in 50 | 1 in 741 |
| Beta hemoglobinopathy, beta thalassemias (HBB) | NM_000518 | East Asian | 93% | 1 in 20 | 1 in 700 |
| Beta hemoglobinopathy, beta thalassemias (HBB) | NM_000518 | Mediterranean | 97% | 1 in 20 | 1 in 634 |
| Beta hemoglobinopathy, beta thalassemias (HBB) | NM_000518 | Middle Eastern | 84% | 1 in 30 | 1 in 182 |
| Beta hemoglobinopathy, beta thalassemias (HBB) | NM_000518 | South Asian | 95% | 1 in 20 | 1 in 381 |
| Beta hemoglobinopathy, beta thalassemias (HBB) | NM_000518 | Southeast Asian | 90% | 1 in 30 | 1 in 291 |
| Beta hemoglobinopathy, hemoglobins C, D, E, and O (HBB) | NM_000518 | African American | >99% | 1 in 46 | Negligible |
| Beta hemoglobinopathy, hemoglobins C, D, E, and O (HBB) | NM_000518 | Asian | >99% | 1 in 119 | Negligible |
| Beta hemoglobinopathy, hemoglobins C, D, E, and O (HBB) | NM_000518 | Asian Indian | >99% | 1 in 68 | Negligible |
| Beta hemoglobinopathy, hemoglobins C, D, E, and O (HBB) | NM_000518 | Middle Eastern | >99% | 1 in 255 | Negligible |
| Beta hemoglobinopathy, hemoglobins C, D, E, and O (HBB) | NM_000518 | Native American | >99% | 1 in 292 | Negligible |
| Beta hemoglobinopathy, hemoglobins C, D, E, and O (HBB) | NM_000518 | Southeast Asian | >99% | 1 in 15 | Negligible |
| Beta hemoglobinopathy, sickle cell disease (HBB) | NM_000518 | African American | >99% | 1 in 14 | Negligible |
| Beta hemoglobinopathy, sickle cell disease (HBB) | NM_000518 | Hispanic | >99% | 1 in 183 | Negligible |
| Beta hemoglobinopathy, sickle cell disease (HBB) | NM_000518 | Middle Eastern | >99% | 1 in 360 | Negligible |
| Beta hemoglobinopathy, sickle cell disease (HBB) | NM_000518 | Native American | >99% | 1 in 176 | Negligible |
| Beta-mannosidosis (MANBA) | NM_005908 | Worldwide | 81% | N/A* | N/A |
| Bloom syndrome (BLM) | NM_000057 | Ashkenazi Jewish | 97% | 1 in 134 | 1 in 4434 |
| Canavan disease (ASPA) | NM_000049 | Ashkenazi Jewish | 98% | 1 in 55 | 1 in 2700 |
| Carbamoyl phosphate synthetase I deficiency (CPS1) | NM_001875 | Worldwide | 48% | 1 in 570 | 1 in 1095 |
| Carnitine palmitoyltransferase II deficiency (CPT2) | NM_000098 | Caucasian | 72% | N/A* | N/A |
| Carnitine-acylcarnitine translocase deficiency (SLC25A20) | NM_000387 | Worldwide | N/A* | N/A | N/A |
| Cartilage-hair hypoplasia (RMRP) | NM_003051 | Amish | 91% | 1 in 19 | 1 in 200 |
| Cartilage-hair hypoplasia (RMRP) | NM_003051 | Finnish | 92% | 1 in 76 | 1 in 938 |
| Cartilage-hair hypoplasia (RMRP) | NM_003051 | Worldwide | 48% | N/A* | N/A |
| Citrullinemia type I (ASS1) | NM_000050 | Japanese | 71% | N/A* | N/A |
| Citrullinemia type I (ASS1) | NM_000050 | Worldwide | 52% | 1 in 119 | 1 in 247 |
| Cobalamin C disease (MMACHC) | NM_015506 | Worldwide | 89% | N/A* | N/A |
| Cohen syndrome (VPS13B) | NM_017890 | Finnish | 75% | N/A* | N/A |
| Cohen syndrome (VPS13B) | NM_017890 | Worldwide | 54% | N/A* | N/A |
| Congenital amegakaryocytic thrombocytopenia (MPL) | NM_005373 | Ashkenazi Jewish | 95% | 1 in 75 | 1 in 1480 |
| Congenital disorder of glycosylation type 1a (PMM2) | NM_000303 | Caucasian | 89% | 1 in 71 | 1 in 637 |
| Cystic fibrosis (CFTR) | NM_000492 | African American | >81% | 1 in 61 | 1 in 316 |
| Cystic fibrosis (CFTR) | NM_000492 | Ashkenazi Jewish | >97% | 1 in 24 | 1 in 767 |
| Cystic fibrosis (CFTR) | NM_000492 | Asian American | >55% | 1 in 94 | 1 in 208 |
| Cystic fibrosis (CFTR) | NM_000492 | Caucasian | >93% | 1 in 25 | 1 in 343 |
| Cystic fibrosis (CFTR) | NM_000492 | Hispanic | >78% | 1 in 58 | 1 in 260 |
| Cystinosis (CTNS) | NM_004937 | French Canadian | 70% | 1 in 39 | 1 in 127 |
| Cystinosis (CTNS) | NM_004937 | Worldwide | 61% | 1 in 158 | 1 in 403 |
| D-bifunctional protein deficiency (HSD17B4) | NM_000414 | Worldwide | 51% | N/A* | N/A |
| Dihydrolipoamide dehydrogenase deficiency (DLD) | NM_000108 | Ashkenazi Jewish | 95% | 1 in 107 | 1 in 2121 |
| Dihydropyrimidine dehydrogenase deficiency (DPYD) | NM_000110 | Northern European Caucasian | 71% | N/A* | N/A |
| Dystrophinopathies, including Duchenne and Becker muscular dystrophies and cardiomyopathies (DMD) | NM_004006 | Worldwide | 95% | N/A** | N/A |
| Ehlers-Danlos syndrome type VIIC (ADAMTS2) | NM_014244 | Ashkenazi Jewish | 95% | N/A* | N/A |
| Ehlers-Danlos syndrome type VIIC (ADAMTS2) | NM_014244 | Worldwide | 80% | N/A* | N/A |
| Ethylmalonic encephalopathy (ETHE1) | NM_014297 | Mediterranean/Arab | 61% | N/A* | N/A |
| Familial dysautonomia (IKBKAP) | NM_003640 | Ashkenazi Jewish | 99% | 1 in 31 | 1 in 3000 |
| Familial hyperinsulinism, ABCC8-related (ABCC8) | NM_000352 | Ashkenazi Jewish | 97% | 1 in 52 | 1 in 1700 |
| Familial hyperinsulinism, ABCC8-related (ABCC8) | NM_000352 | Finnish | 43% | 1 in 101 | 1 in 175 |
| Familial Mediterranean fever (MEFV) | NM_000243 | Arab | 71% | 1 in 5 | 1 in 14 |
| Familial Mediterranean fever (MEFV) | NM_000243 | Armenian | 78% | 1 in 5 | 1 in 19 |
| Familial Mediterranean fever (MEFV) | NM_000243 | Ashkenazi Jewish | 69% | 1 in 81**** | 1 in 259 |
| Familial Mediterranean fever (MEFV) | NM_000243 | North African Jewish | 94% | 1 in 7 | 1 in 100 |
| Familial Mediterranean fever (MEFV) | NM_000243 | Turkish | 74% | 1 in 5 | 1 in 16 |
| Fanconi anemia group C (FANCC) | NM_000136 | Ashkenazi Jewish | 99% | 1 in 100 | 1 in 9900 |
| Fucosidosis (FUCA1) | NM_000147 | Worldwide | 80% | N/A* | N/A |
| Galactosemia, GALT-related (GALT) | NM_000155 | African American | 65% | 1 in 78 | 1 in 221 |
| Galactosemia, GALT-related (GALT) | NM_000155 | Ashkenazi Jewish | 88% | 1 in 127 | 1 in 1050 |
| Galactosemia, GALT-related (GALT) | NM_000155 | Caucasian | 81% | 1 in 108 | 1 in 564 |
| Galactosialidosis (CTSA) | NM_000308 | Japanese | 60% | N/A* | N/A |
| Gaucher disease (GBA) | NM_001005741 | Ashkenazi Jewish | 98% | 1 in 15 | 1 in 700 |
| Glutaric acidemia type 1 (GCDH) | NM_000159 | Amish | 94% | 1 in 9 | 1 in 134 |
| Glutaric acidemia type 1 (GCDH) | NM_000159 | German | 55% | 1 in 158 | 1 in 350 |
| Glutathione synthetase deficiency (GSS) | NM_000178 | Worldwide | 67% | N/A* | N/A |
| Glycine encephalopathy, AMT-related (AMT) | NM_000481 | Worldwide | 50% | N/A* | N/A |
| Glycine encephalopathy, GLDC-related (GLDC) | NM_000170 | Finnish | 70% | 1 in 117 | 1 in 387 |
| Glycogen storage disease type Ia (G6PC) | NM_000151 | Ashkenazi Jewish | 99% | 1 in 64 | 1 in 6300 |
| Glycogen storage disease type Ia (G6PC) | NM_000151 | Worldwide | 81% | 1 in 177 | 1 in 927 |
| Glycogen storage disease type Ib (SLC37A4) | NM_001164277 | Worldwide | 46% | 1 in 354 | 1 in 654 |
| Glycogen storage disease type III (AGL) | NM_000642 | Faroese | 99% | 1 in 30 | 1 in 2900 |
| Glycogen storage disease type III (AGL) | NM_000642 | North African Jewish | 99% | 1 in 37 | 1 in 3600 |
| Glycogen storage disease type III (AGL) | NM_000642 | Worldwide | 85% | 1 in 159 | 1 in 1054 |
| GM1 gangliosidosis and mucopolysaccharidosis type IVB (GLB1) | NM_000404 | Worldwide | 45% | 1 in 160 | 1 in 290 |
| GRACILE syndrome (BCS1L) | NM_004328 | Finnish | 99% | 1 in 110 | 1 in 10,900 |
| Guanidinoacetate methyltransferase deficiency (GAMT) | NM_000156 | Portuguese | 83% | 1 in 125 | 1 in 730 |
| Guanidinoacetate methyltransferase deficiency (GAMT) | NM_000156 | Worldwide | 68% | N/A* | N/A |
| Hereditary fructose Intolerance (ALDOB) | NM_000035 | Worldwide | 75% | 1 in 71 | 1 in 281 |
| HMG-CoA lyase deficiency (HMGCL) | NM_000191 | Saudi Arabian | 86% | N/A* | N/A |
| HMG-CoA lyase deficiency (HMGCL) | NM_000191 | Spanish/Portuguese | 85% | N/A* | N/A |
| Holocarboxylase synthetase deficiency (HLCS) | NM_000411 | Worldwide | 66% | 1 in 158 | 1 in 463 |
| Homocystinuria, CBS-related (CBS) | NM_000071 | United States | 65% | 1 in 227 | 1 in 647 |
| Hypophosphatasia, autosomal recessive (ALPL) | NM_000478 | Japanese | 55% | N/A* | N/A |
| Hypophosphatasia, autosomal recessive (ALPL) | NM_000478 | Mennonite | 99% | 1 in 25 | 1 in 2400 |
| Joubert syndrome 2 (TMEM216) | NM_001173990 | Ashkenazi Jewish | 99% | 1 in 92 | 1 in 9100 |
| Junctional epidermolysis bullosa, LAMA3-related (LAMA3) | NM_000227 | Pakistani | 99% | N/A* | N/A |
| Junctional epidermolysis bullosa, LAMB3-related (LAMB3) | NM_000228 | Worldwide | 55% | 1 in 418 | 1 in 927 |
| Junctional epidermolysis bullosa, LAMC2-related (LAMC2) | NM_005562 | Italian | 29% | 1 in 425 | 1 in 598 |
| Krabbe disease (GALC) | NM_000153 | Caucasian | 60% | 1 in 158 | 1 in 393 |
| Leigh syndrome, autosomal recessive (FOXRED1, NDUFAF2, NDUFS4, NDUFS7, NDUFV1, COX15, SURF1) | NM_017547, NM_174889, NM_002495, NM_024407, NM_007103, NM_004376, NM_003172 | Worldwide | 30% | 1 in 100 | 1 in 142 |
| Leigh syndrome, French Canadian type (LRPPRC) | NM_133259 | French Canadian | 98% | 1 in 23 | 1 in 1100 |
| Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) (HADHA) | NM_000182 | Dutch | 87% | 1 in 158 | 1 in 1208 |
| Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) (HADHA) | NM_000182 | Worldwide | 71% | 1 in 138 | 1 in 473 |
| Maple syrup urine disease type 1A (BCKDHA) | NM_000709 | Mennonite | 99% | 1 in 13 | 1 in 1200 |
| Maple syrup urine disease type 1B (BCKDHB) | NM_183050 | Ashkenazi Jewish | 95% | 1 in 97 | 1 in 1921 |
| Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) (ACADM) | NM_000016 | United States | 79% | 1 in 63 | 1 in 296 |
| Metachromatic leukodystrophy (ARSA) | NM_000487 | Caucasian | 56% | 1 in 141 | 1 in 319 |
| Metachromatic leukodystrophy (ARSA) | NM_000487 | Japanese | 50% | 1 in 132 | 1 in 263 |
| Methylmalonic acidemia, MMAA-related (MMAA) | NM_172250 | Caucasian | 80% | 1 in 300 | 1 in 1496 |
| Methylmalonic acidemia, MMAB-related (MMAB) | NM_052845 | Caucasian | 70% | 1 in 435 | 1 in 1448 |
| Methylmalonic acidemia, MUT-related (MUT) | NM_000255 | African American | 59% | 1 in 195 | 1 in 474 |
| Methylmalonic acidemia, MUT-related (MUT) | NM_000255 | Hispanic | 63% | 1 in 195 | 1 in 525 |
| Mitochondrial acetoacetyl-CoA thiolase deficiency (ACAT1) | NM_000019 | Vietnamese | 94% | N/A* | N/A |
| Mitochondrial acetoacetyl-CoA thiolase deficiency (ACAT1) | NM_000019 | Worldwide | 65% | N/A* | N/A |
| Mucolipidosis type II and III, GNPTAB-related (GNPTAB) | NM_024312 | French Canadian | 99% | 1 in 39 | 1 in 3800 |
| Mucolipidosis type II and III, GNPTAB-related (GNPTAB) | NM_024312 | Worldwide | 79% | 1 in 152 | 1 in 720 |
| Mucolipidosis type IV (MCOLN1) | NM_020533 | Ashkenazi Jewish | 96% | 1 in 89 | 1 in 2200 |
| Mucopolysaccharidosis type I (IDUA) | NM_000203 | Caucasian | 60% | 1 in 158 | 1 in 393 |
| Mucopolysaccharidosis type I (IDUA) | NM_000203 | Japanese | 42% | 1 in 158 | 1 in 271 |
| Mucopolysaccharidosis type I (IDUA) | NM_000203 | Scandinavian | 79% | 1 in 158 | 1 in 748 |
| Mucopolysaccharidosis type II (IDS) | NM_000202 | Worldwide | 44% | N/A** | N/A |
| Mucopolysaccharidosis type IIIA (SGSH) | NM_000199 | Worldwide | 70% | 1 in 170 | 1 in 564 |
| Mucopolysaccharidosis type IIIB (NAGLU) | NM_000263 | Dutch | 73% | 1 in 244 | 1 in 901 |
| Mucopolysaccharidosis type IIIB (NAGLU) | NM_000263 | Worldwide | 42% | 1 in 220 | 1 in 379 |
| Mucopolysaccharidosis type IIIC (HGSNAT) | NM_152419 | Worldwide | 67% | N/A* | N/A |
| Mucopolysaccharidosis type IIID (GNS) | NM_002076 | Worldwide | 62% | N/A* | N/A |
| Mucopolysaccharidosis type IVA (GALNS) | NM_000512 | General | 49% | 1 in 250 | 1 in 489 |
| Mucopolysaccharidosis type VI (ARSB) | NM_000046 | Worldwide | 42% | 1 in 250 | 1 in 430 |
| Mucopolysaccharidosis type VII (GUSB) | NM_000181 | Worldwide | 48% | N/A* | N/A |
| Multiple sulphatase deficiency (SUMF1) | NM_182760 | Ashkenazi Jewish | N/A* | N/A | N/A |
| Nemaline myopathy, NEB-related (NEB) | NM_001271208 | Ashkenazi Jewish | 95% | 1 in 168 | 1 in 3341 |
| Nephrotic syndrome, NPHS1-related (NPHS1) | NM_004646 | Finnish | 94% | 1 in 45 | 1 in 734 |
| Nephrotic syndrome, NPHS1-related (NPHS1) | NM_004646 | Maltese | 99% | 1 in 22 | 1 in 2100 |
| Nephrotic syndrome, NPHS2-related (NPHS2) | NM_014625 | Worldwide | 60% | N/A* | N/A |
| Neuronal ceroid-lipofuscinosis, CLN3-related (CLN3) | NM_001042432 | General | 85% | 1 in 230 | 1 in 1527 |
| Neuronal ceroid-lipofuscinosis, CLN5-related (CLN5) | NM_006493 | Finnish | 99% | 1 in 115 | 1 in 11,400 |
| Neuronal ceroid-lipofuscinosis, CLN8-related (CLN8) | NM_018941 | Finnish | 99% | 1 in 135 | 1 in 13,400 |
| Neuronal ceroid-lipofuscinosis, PPT1-related (PPT1) | NM_000310 | Finnish | 98% | 1 in 67 | 1 in 3300 |
| Neuronal ceroid-lipofuscinosis, PPT1-related (PPT1) | NM_000310 | General | 57% | 1 in 480 | 1 in 1114 |
| Neuronal ceroid-lipofuscinosis, TPP1-related (TPP1) | NM_000391 | General | 53% | 1 in 250 | 1 in 530 |
| Niemann-Pick disease type C, NPC1-related (NPC1) | NM_000271 | Worldwide | 31% | 1 in 183 | 1 in 265 |
| Niemann-Pick disease types A and B (SMPD1) | NM_000543 | Ashkenazi Jewish | 97% | 1 in 116 | 1 in 3834 |
| Niemann-Pick disease types A and B (SMPD1) | NM_000543 | Worldwide | 40% | 1 in 250 | 1 in 416 |
| Niemann-Pick disease type C, NPC2-related (NPC2) | NM_006432 | Worldwide | 56% | 1 in 866 | 1 in 1966 |
| Nijmegen breakage syndrome (NBN) | NM_002485 | Eastern European Slavic | 99% | 1 in 177 | 1 in 17,600 |
| Ornithine transcarbamylase deficiency (OTC) | NM_000531 | Worldwide | 50% | N/A** | N/A |
| Phenylalanine hydroxylase deficiency, includes phenylketonuria (PKU) (PAH) | NM_000277 | Caucasian | 57% | 1 in 50 | 1 in 114 |
| Phenylalanine hydroxylase deficiency, includes phenylketonuria (PKU) (PAH) | NM_000277 | Irish | 69% | 1 in 33 | 1 in 104 |
| Phenylalanine hydroxylase deficiency, includes phenylketonuria (PKU) (PAH) | NM_000277 | Turkish | 55% | 1 in 26 | 1 in 56 |
| Phosphoglycerate dehydrogenase deficiency, PHGDH-related (PHGDH) | NM_006623 | Ashkenazi Jewish | N/A* | N/A | N/A |
| Polycystic kidney disease, autosomal recessive (PKHD1) | NM_138694 | Finnish | 79% | 1 in 70 | 1 in 329 |
| Polycystic kidney disease, autosomal recessive (PKHD1) | NM_138694 | Worldwide | 59% | 1 in 70 | 1 in 169 |
| Pompe disease (GAA) | NM_000152 | African American | 43% | 1 in 60 | 1 in 104 |
| Pompe disease (GAA) | NM_000152 | Chinese | 80% | 1 in 112 | 1 in 556 |
| Pompe disease (GAA) | NM_000152 | Dutch | 64% | 1 in 100 | 1 in 276 |
| Primary hyperoxaluria type 1 (AGXT) | NM_000030 | Worldwide | 46% | 1 in 289 | 1 in 534 |
| Primary hyperoxaluria type 2 (GRHPR) | NM_012203 | Asian | 50% | N/A* | N/A |
| Primary hyperoxaluria type 2 (GRHPR) | NM_012203 | Caucasian | 58% | N/A* | N/A |
| Propionic acidemia, PCCA-related (PCCA) | NM_000282 | Japanese | 70% | 1 in 65 | 1 in 214 |
| Propionic acidemia, PCCB-related (PCCB) | NM_000532 | Caucasian | 32% | 1 in 112 | 1 in 164 |
| Propionic acidemia, PCCB-related (PCCB) | NM_000532 | Japanese | 77% | 1 in 65 | 1 in 279 |
| Propionic acidemia, PCCB-related (PCCB) | NM_000532 | Latin American | 91% | 1 in 112 | 1 in 1234 |
| Propionic acidemia, PCCB-related (PCCB) | NM_000532 | Spanish | 68% | 1 in 112 | 1 in 338 |
| Pyruvate dehydrogenase deficiency, PDHA1-related (PDHA1) | NM_000284 | Worldwide | 40% | N/A** | N/A |
| Retinitis pigmentosa 59 (DHDDS) | NM_024887 | Ashkenazi Jewish | 95% | 1 in 322 | 1 in 6420 |
| Rhizomelic chondrodysplasia punctata type 1 (PEX7) | NM_000288 | Worldwide | 72% | 1 in 158 | 1 in 561 |
| Salla disease (SLC17A5) | NM_012434 | Finnish | 96% | 1 in 200 | 1 in 4976 |
| Sandhoff disease (HEXB) | NM_000521 | Italian | 75% | N/A* | N/A |
| Sialidosis (NEU1) | NM_000434 | Chinese | 89% | N/A* | N/A |
| Sialidosis (NEU1) | NM_000434 | Worldwide | 49% | N/A* | N/A |
| Sjogren-Larsson syndrome (ALDH3A2) | NM_000382 | Swedish | 87% | 1 in 200 | 1 in 1531 |
| Smith-Lemli-Opitz syndrome (DHCR7) | NM_001360 | Worldwide | 75% | 1 in 71 | 1 in 281 |
| Sulfate transporter-related osteochondrodysplasias (SLC26A2) | NM_000112 | Finnish | 96% | 1 in 50 | 1 in 1226 |
| Sulfate transporter-related osteochondrodysplasias (SLC26A2) | NM_000112 | General | 70% | 1 in 158 | 1 in 524 |
| Systemic primary carnitine deficiency (SLC22A5) | NM_003060 | Worldwide | 43% | 1 in 130 | 1 in 227 |
| Tay-Sachs disease (HEXA) | NM_000520 | Ashkenazi Jewish | 96%*** | 1 in 27*** | 1 in 650 |
| Tay-Sachs disease (HEXA) | NM_000520 | US French Canadian | 47%*** | 1 in 73*** | 1 in 136 |
| Tay-Sachs disease (HEXA) | NM_000520 | Worldwide | 46%*** | 1 in 300*** | 1 in 554 |
| Tyrosinemia type 1 (FAH) | NM_000137 | Ashkenazi Jewish | 99% | 1 in 158 | 1 in 15,700 |
| Tyrosinemia type 1 (FAH) | NM_000137 | Finnish | 95% | 1 in 122 | 1 in 2421 |
| Tyrosinemia type 1 (FAH) | NM_000137 | French Canadian | 95% | 1 in 56 | 1 in 1100 |
| Tyrosinemia type 1 (FAH) | NM_000137 | Worldwide | 72% | 1 in 158 | 1 in 562 |
| Usher syndrome type IF (PCDH15) | NM_033056 | Ashkenazi Jewish | 75% | 1 in 147 | 1 in 585 |
| Usher syndrome type IIIA (CLRN1) | NM_174878 | Ashkenazi Jewish | 98% | 1 in 120 | 1 in 5951 |
| Usher syndrome type IIIA (CLRN1) | NM_174878 | Finnish | 98% | 1 in 134 | 1 in 6650 |
| Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) (ACADVL) | NM_000018 | Worldwide | 34% | 1 in 222 | 1 in 336 |
| Walker-Warburg syndrome, FKTN-related (FKTN) | NM_001079802 | Ashkenazi Jewish | 99% | 1 in 79 | 1 in 7800 |
| Wilson disease (ATP7B) | NM_000053 | Asian | 39% | 1 in 50 | 1 in 81 |
| Wilson disease (ATP7B) | NM_000053 | Caucasian | 55% | 1 in 90 | 1 in 199 |
| Xeroderma pigmentosum, ERCC5-related (ERCC5) | NM_000123 | Worldwide | 68% | N/A* | N/A |
| Xeroderma pigmentosum, XPA-related (XPA) | NM_000380 | Worldwide | 91% | N/A* | N/A |
| Xeroderma pigmentosum, XPA-related (XPA) | NM_000380 | Japanese | 90% | 1 in 113 | 1 in 1120 |
| Xeroderma pigmentosum, XPC-related (XPC) | NM_004628 | Tunisian | 99% | 1 in 50 | 1 in 4900 |
| Xeroderma pigmentosum, XPC-related (XPC) | NM_004628 | Worldwide | 76% | N/A* | N/A |
| X-linked severe combined Immunodeficiency (SCID) (IL2RG) | NM_000206 | Worldwide | 68% | N/A** | N/A |
| Zellweger spectrum disorder, PEX10-related (PEX10) | NM_153818 | Worldwide | 17% | 1 in 646 | 1 in 778 |
| Zellweger spectrum disorder, PEX12-related (PEX12) | NM_000286 | Worldwide | 21 | 1 in 373 | 1 in 472 |
| Zellweger spectrum disorder, PEX1-related (PEX1) | NM_000466 | Worldwide | 67% | 1 in 134 | 1 in 404 |
| Zellweger spectrum disorder, PEX26-related (PEX26) | NM_017929 | Worldwide | 27% | 1 in 646 | 1 in 885 |
| Zellweger spectrum disorder, PEX2-related (PEX2) | NM_000318 | Ashkenazi Jewish | N/A* | 1 in 123 | N/A |
| Zellweger spectrum disorder, PEX6-related (PEX6) | NM_000287 | Worldwide | 23% | 1 in 280 | 1 in 363 |
\* Not available: insufficient published data
\*\* Not available: for this X-linked disease carrier risk is different for males and females and cannot be obtained from observed incidence of the disorder as some female carriers are symptomatic
\*\*\* Excludes pseudodeficiency alleles
\*\*\*\* The carrier frequency in healthy Ashkenazi Jewish individuals has been reported to be as high as 1 in 5; however, the carrier frequency of 1 in 81 is based on the observed incidence of disorder
**Disclaimer:** This test was developed and its performance characteristics determined by Esoterix Genetic Laboratories, LLC. It has not been cleared or approved by the Food and Drug Administration.
Integrated Genetics is a business unit of Esoterix Genetic Laboratories, LLC, a wholly-owned subsidiary of Laboratory Corporation of America Holdings. Inheritest(R) is a registered service mark of Laboratory Corporation of America Holdings.
**Director Review:** JENNIFER REINER PHD, FACMG
**Ordering provider:** Candice B. Tilles, MD
**Collection date:** Sep 15, 2021 2:09 PM
**Specimens:** Blood (Antecubital, Left)
**Result date:** Oct 01, 2021 9:06 AM
**Result status:** Final
**Resulting lab:** REFERENCE LAB LABCORP - BKR, 13112 Evening Creek Drive South, San Diego CA 92128, 858-668-3700
**Lab director:** Jenny Galloway, MD
---
## PAP, REFLEX HIGH RISK HPV IF ASCUS/ACG
**Collected on:** Oct 20, 2021
### Provider Message
**Candice B. Tilles, MD** - 10/25/2021, 8:41 AM
> Hi Erica,
>
> Your Pap smear was normal. Please follow up for your next pap smear in one year. Hope all is well!
>
> Dr. Tilles
### Result Information
| Field | Value |
|-------|-------|
| Status | Final result (10/21/2021 4:06 PM PDT) |
| Priority | Routine |
| Source | Cervix |
| Order | 1100525376 |
| Dx | Well woman exam with routine gynecolo... |
| Next appt | 11/03/2026 at 08:30 AM in Primary Care (Elizabeth Spence, DO) |
| Component | Comment |
|-----------|---------|
| Specimen adequacy | Satisfactory for evaluation. Endocervical and/or squamous metaplastic cells (endocervical component) are present. |
| DIAGNOSIS | NEGATIVE FOR INTRAEPITHELIAL LESION OR MALIGNANCY. |
| Clinician Provided ICD | Z01.419 |
| Performed by | Daniel Spikings, Cytotechnologist (ASCP) |
| Microscopic description | . |
| Note | The Pap smear is a screening test designed to aid in the detection of premalignant and malignant conditions of the uterine cervix. It is not a diagnostic procedure and should not be used as the sole means of detecting cervical cancer. Both false-positive and false-negative reports do occur. |
| Methodology | This liquid based ThinPrep(R) pap test was screened with the use of an image guided system. |
| Pathology Comment 1 | The HPV DNA reflex criteria were not met with this specimen result therefore, no HPV testing was performed. |
**Narrative:**
Performed at: 01 - LabCorp Monrovia, 605 East Huntington Drive Ste 209, Monrovia, CA 910166353
Lab Director: Mona Yong MD, Phone: 6264713500
Specimen Comment: Source...........Cervix
Specimen Comment: Dates / Results....No
Specimen Comment: No. of containers..01 ThinPrep Vial
**Specimen Collected:** 10/20/2021 2:25 PM PDT
**Last Resulted:** 10/21/2021 4:06 PM PDT
### Health Maintenance
| Topic | Next Due |
|-------|----------|
| Cervical Cancer Screening (Pap/HPV) (Every 5 Years) | 9/12/2030 |
**Authorizing Provider:** Candice Bianca Tilles, MD
- Phone: 310-829-7878
- Fax: 310-453-5586
**Reviewer:** Candice Bianca Tilles, MD on 10/25/2021 8:41 AM
---
## PROLACTIN
**Collected on:** Sep 15, 2021 2:09 PM
**Performed at:** 01 - LabCorp San Diego, 13112 Evening Creek Dr So Ste 200, San Diego, CA 921284108
**Lab Director:** Jenny Galloway MD, Phone: 8586683700
| Test | Value | Unit | Normal Range |
|------|-------|------|--------------|
| Prolactin | 17 | ng/mL | 4.8 - 23.3 |
**Ordering provider:** Candice B. Tilles, MD
**Collection date:** Sep 15, 2021 2:09 PM
**Specimens:** Blood (Arm, Left)
**Result date:** Sep 16, 2021 8:06 AM
**Result status:** Final
**Resulting lab:** REFERENCE LAB LABCORP - BKR, 13112 Evening Creek Drive South, San Diego CA 92128, 858-668-3700
**Lab director:** Jenny Galloway, MD
---
## RUBELLA ANTIBODY, IGG
**Collected on:** Sep 15, 2021 2:09 PM
**Performed at:** 01 - LabCorp San Diego, 13112 Evening Creek Dr So Ste 200, San Diego, CA 921284108
**Lab Director:** Jenny Galloway MD, Phone: 8586683700
| Test | Value | Unit | Normal Value |
|------|-------|------|-------------|
| Rubella IgG Ab | 1.36 | index | Immune >0.99 |
| Interpretation | Index Range |
|----------------|-------------|
| Non-immune | <0.90 |
| Equivocal | 0.90 - 0.99 |
| Immune | >0.99 |
**Ordering provider:** Candice B. Tilles, MD
**Collection date:** Sep 15, 2021 2:09 PM
**Specimens:** Blood (Arm, Left)
**Result date:** Sep 21, 2021 3:05 PM
**Result status:** Final
**Resulting lab:** REFERENCE LAB LABCORP - BKR, 13112 Evening Creek Drive South, San Diego CA 92128, 858-668-3700
**Lab director:** Jenny Galloway, MD
---
## RUBEOLA ANTIBODY, IGG
**Collected on:** Sep 15, 2021 2:09 PM
**Performed at:** 01 - LabCorp San Diego, 13112 Evening Creek Dr So Ste 200, San Diego, CA 921284108
**Lab Director:** Jenny Galloway MD, Phone: 8586683700
| Test | Value | Unit | Normal Value |
|------|-------|------|-------------|
| Rubeola IgG (REF) | 150.0 | AU/mL | Immune >16.4 |
| Interpretation | AU/mL Range |
|----------------|-------------|
| Negative | <13.5 |
| Equivocal | 13.5 - 16.4 |
| Positive | >16.4 |
Presence of antibodies to Rubeola is presumptive evidence of immunity except when acute infection is suspected.
**Ordering provider:** Candice B. Tilles, MD
**Collection date:** Sep 15, 2021 2:09 PM
**Specimens:** Blood (Arm, Left)
**Result date:** Sep 16, 2021 8:06 AM
**Result status:** Final
**Resulting lab:** REFERENCE LAB LABCORP - BKR, 13112 Evening Creek Drive South, San Diego CA 92128, 858-668-3700
**Lab director:** Jenny Galloway, MD
---
## Thyroid Stimulating Hormone
**Collected on:** Sep 15, 2021 2:09 PM
| Test | Value | Unit | Normal Range |
|------|-------|------|--------------|
| TSH | 3.03 | uIU/mL | 0.50 - 5.80 |
**Ordering provider:** Candice B. Tilles, MD
**Collection date:** Sep 15, 2021 2:09 PM
**Specimens:** Blood (Arm, Left)
**Result date:** Sep 15, 2021 7:50 PM
**Result status:** Final
**Resulting lab:** CA PJNF WOMENS HEALTH SM LAB (CLIA 05D0550213), 2001 SANTA MONICA BLVD STE 970W, SANTA MONICA CA 90404-2199, 310-829-7878
**Lab director:** Jon S. Matsunaga, MD
**CLIA #:** 05D0550213
---
## US ECHOGRAPHY TRANSVAGINAL
### Results
**US Non-Ob Transvaginal [IMG547]** (Accession 23201068PRV) (Order 1080882493)
**9/15/2021 4:44 PM - Candice Bianca Tilles, MD**
### Narrative & Impression
**Patient Name:** Xuewei Jiang
**Age:** 28 y.o.
**DOB:** 3/13/1993
**Medical Record Number:** 20018501333
**Date of Service:** 9/15/2021
**Ultrasound Name:** GYN Ultrasound
**Comments:**
- UT and CVX WNL
- EMS meas 4.8 MM
- Bilat OVS and ADX WNL
**Electronically Signed by:** Gabrielle S Decker, Ultrasound Tech, 9/15/2021 12:57 PM PDT
**Impression:** Please see technician's comments.
**Electronically Signed by:** Candice B. Tilles, MD, 9/15/2021 4:44 PM PDT
**Result History:** US Non-Ob Transvaginal (Order #1080882493) on 9/15/2021
**Performing Facility:** SJPP WOMENS HEALTH SANTA MONICA, 2001 SANTA MONICA BLVD STE 970W, SANTA MONICA, California 90404-2199, 310-829-7878
**Reviewed by:** Candice Bianca Tilles, MD - 9/17/2021 5:23 PM
---
## Varicella-Zoster Antibody, IgG
**Collected on:** Sep 15, 2021 2:09 PM
**Performed at:** 01 - LabCorp San Diego, 13112 Evening Creek Dr So Ste 200, San Diego, CA 921284108
**Lab Director:** Jenny Galloway MD, Phone: 8586683700
| Test | Value | Unit | Normal Value |
|------|-------|------|-------------|
| Varicella zoster Ab IgG | 513 | index | Immune >165 |
| Interpretation | Index Range |
|----------------|-------------|
| Negative | <135 |
| Equivocal | 135 - 165 |
| Positive | >165 |
A positive result generally indicates exposure to the pathogen or administration of specific immunoglobulins, but it is not indication of active infection or stage of disease.
**Ordering provider:** Candice B. Tilles, MD
**Collection date:** Sep 15, 2021 2:09 PM
**Specimens:** Blood (Arm, Left)
**Result date:** Sep 16, 2021 8:06 AM
**Result status:** Final
**Resulting lab:** REFERENCE LAB LABCORP - BKR, 13112 Evening Creek Drive South, San Diego CA 92128, 858-668-3700
**Lab director:** Jenny Galloway, MD

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---
type: lab-results
category: blood-work
person: Jiang, Erica (Xuewei)
date: 2025-03-06
provider: Erica T. Wang, MD
source: jiang_exams_march_2025.pdf
---
# Exams March 2025 - Erica Jiang
> Note: This file contains identical content to [[jiang_血检]]. Both source PDFs contain the same lab results from March 6, 2025.
**Patient:** ERICA Jiang | **DOB:** 3/13/1993 | **MRN:** 203300739 | **PCP:** No Pcp | **Legal Name:** Xuewei Jiang
**Source:** My CS-Link - Test Details (https://mycslink.cedars-sinai.org/mycslink/app/test-results/details)
---
## ANTI-MULLERIAN HORMONE (AMH), SERUM
**Collected on:** Mar 06, 2025 9:55 AM
| Test | Value | Unit | Normal Range |
|------|-------|------|--------------|
| Anti-Mullerian Hormone (AMH) | 2.119 | ng/mL | 0.176 - 11.705 |
**Performed By:** ARUP Laboratories, 500 Chipeta Way, Salt Lake City, UT 84108
**Laboratory Director:** Jonathan R. Genzen, MD, PhD
**CLIA Number:** 46 D0523979
**Collection date:** Mar 06, 2025 9:55 AM | **Specimens:** Blood (Blood)
**Result date:** Mar 11, 2025 10:39 AM | **Result status:** Final
**Resulting lab:** CEDARS-SINAI MED CTR DEPT OF PATHOLOGY & LAB MEDICINE
---
## CHLAMYDIA (CT)/GONOCOCCUS (GC), NAA
**Collected on:** Mar 06, 2025 9:55 AM
| Test | Value | Normal Value |
|------|-------|-------------|
| Source | URINE | - |
| C trachomatis Result | NEGATIVE | NEGATIVE |
| N Gonorrhoeae Result | NEGATIVE | NEGATIVE |
**Collection date:** Mar 06, 2025 9:55 AM | **Result date:** Mar 06, 2025 9:59 PM | **Result status:** Final
---
## ESTRADIOL
**Collected on:** Mar 06, 2025 9:55 AM
| Test | Value | Unit |
|------|-------|------|
| Estradiol | <24 | pg/mL |
**Collection date:** Mar 06, 2025 9:55 AM | **Specimens:** Blood (Blood)
**Result date:** Mar 06, 2025 2:33 PM | **Result status:** Final
---
## FSH
**Collected on:** Mar 06, 2025 9:55 AM
| Test | Value | Unit |
|------|-------|------|
| Follicle Stimulating Hormone | 5.9 | MIU/ML |
**Collection date:** Mar 06, 2025 9:55 AM | **Specimens:** Blood (Blood)
**Result date:** Mar 06, 2025 2:33 PM | **Result status:** Final
---
## HEPATITIS B SURFACE ANTIGEN
**Collected on:** Mar 06, 2025 9:55 AM
| Test | Value | Normal Value |
|------|-------|-------------|
| Hepatitis B Surface Antigen | NEG | NEG |
**Collection date:** Mar 06, 2025 9:55 AM | **Result date:** Mar 06, 2025 2:40 PM | **Result status:** Final
---
## HEPATITIS C ANTIBODY
**Collected on:** Mar 06, 2025 9:55 AM
| Test | Value | Unit | Normal Value |
|------|-------|------|-------------|
| Hepatitis C Antibody | 0.10 | S/CO | <0.80 S/CO |
**Collection date:** Mar 06, 2025 9:55 AM | **Result date:** Mar 06, 2025 2:30 PM | **Result status:** Final
---
## HIV ANTIGEN/ANTIBODY COMBO TEST
**Collected on:** Mar 06, 2025 9:55 AM
| Test | Value | Normal Value |
|------|-------|-------------|
| HIV Ag/Ab Combo | NEG | NEG |
**Collection date:** Mar 06, 2025 9:55 AM | **Result date:** Mar 06, 2025 2:30 PM | **Result status:** Final
---
## TREPONEMA PALLIDUM ANTIBODIES, REFLEX TO CONFIRM
**Collected on:** Mar 06, 2025 9:55 AM
| Test | Value | Normal Value |
|------|-------|-------------|
| Syphilis, T. Pallidum Interpretation | NONREACTIVE | NONREACTIVE |
**Collection date:** Mar 06, 2025 9:55 AM | **Result date:** Mar 06, 2025 2:29 PM | **Result status:** Final
---
## TYPE & SCREEN
**Collected on:** Mar 06, 2025 9:55 AM
| Test | Value |
|------|-------|
| Specimen Expiration | 03/09/2025,2359 |
| ABO/Rho(D) | B POSITIVE |
| Antibody Screen | NEGATIVE |
| Confirm ABO | Ref. Lab. Patient |
| Female Rh Type | State law requires that the woman being tested be informed, by her physician, of her Rho(D) typing results. |
**Collection date:** Mar 06, 2025 9:55 AM | **Result date:** Mar 06, 2025 5:13 PM | **Result status:** Final
---
## US PELVIS LIMITED
**Wang, Erica T., MD** 3/6/2025 10:30 AM | **Attending:** Wang
**Probe Number:** F9 | **Ultrasound Route:** Transvaginal
**Patient name:** ERICA Jiang | **MRN:** 203300739 | **DOB:** 3/13/1993 | **Age:** 31 | **Date of service:** 3/6/2025
| Structure | Parameter | Value |
|-----------|-----------|-------|
| Right Ovary | Dimensions | 2.81 x 1.65 x 2.81 cm |
| Right Ovary | Comments | no cysts, LF 11.1 x 10.0 mm |
| Right Ovary | Follicle number | 7 |
| Left Ovary | Dimensions | 2.63 x 1.37 x 3.41 cm |
| Left Ovary | Comments | no cysts, LF 8.8 mm |
| Left Ovary | Follicle number | 4 |
| Uterus | Dimensions | 5.79 x 4.38 x 5.39 cm |
| Uterus | Endometrium thickness | 4.54 mm |
**Impression:** normal uterus, no ovarian cysts, AFC 7+4
**Holden performed and interpreted the ultrasound**
**Authorizing provider:** Marissa Holden | **Result date:** Mar 06, 2025 10:00 AM | **Result status:** Final

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---
type: lab-results
category: gyn-exam
person: Jiang, Erica (Xuewei)
date: 2025-09-12
provider: Candice B. Tilles, MD
source: jiang_exams_sept_2025.pdf
---
# Exams September 2025 - Erica Jiang
**Patient:** Erica Jiang | **DOB:** 3/13/1993 | **MRN:** 20018501333 | **PCP:** Elizabeth Spence, DO
**Source:** MyChart - Test Details (mychartor.providence.org)
---
## PAP, LIQUID BASED, AND HPV, REFLEX, GENOTYPE 16,18, 45
### Provider Message
**Candice B. Tilles, MD** - 09/16/2025, 4:20 PM
> Hi Erica,
>
> Your Pap smear was normal. Please follow up for your next routine exam in one year.
>
> All my best,
> Dr. Tilles
Written by Candice B. Tilles, MD on 9/16/2025 4:20 PM PDT
Seen by patient Erica Jiang on 1/2/2026 4:06 PM
### Result Information
| Field | Value |
|-------|-------|
| Test | Pap, Liquid based, and HPV, Reflex, Genotype 16/18/45 |
| Order | 1680795085 |
| Status | Final result (9/16/2025 4:06 PM PDT) |
| Priority | Routine |
| Source | Cervix |
| Dx | Well woman exam with routine gynecolo... |
| Next appt | 11/03/2026 at 08:30 AM in Primary Care (Elizabeth Spence, DO) |
| Test Result Released | Yes (seen) |
| Messages | Seen |
CM = Additional comments
| Component | Comment (3 mo ago) |
|-----------|-------------------|
| DIAGNOSIS | NEGATIVE FOR INTRAEPITHELIAL LESION OR MALIGNANCY. |
| Specimen adequacy | Satisfactory for evaluation. Endocervical and/or squamous metaplastic cells (endocervical component) are present. |
| Clinician Provided ICD | Z01.419 |
| Performed by | Lillian Martinez, Cytologist (ASCP) |
| Microscopic description | . |
| Note | The Pap smear is a screening test designed to aid in the detection of premalignant and malignant conditions of the uterine cervix. It is not a diagnostic procedure and should not be used as the sole means of detecting cervical cancer. Both false-positive and false-negative reports do occur. |
| Methodology | This liquid based ThinPrep(R) pap test was screened with the use of an image guided system. |
| HPV | **Negative** |
| HPV Comment | This nucleic acid amplification test detects fourteen high-risk HPV types (16,18,31,33,35,39,45,51,52,56,58,59,66,68) without differentiation. |
| HPV Genotype | Criteria not met, HPV Genotype not performed. |
**Performed At:** 01 Labcorp Monrovia, 605 East Huntington Drive Ste 209, Monrovia, CA 910166353, Yong Mona MD, 6264713500
**Performed At:** 02 Labcorp San Diego, 13112 Evening Creek Dr So Ste 200, San Diego, CA 921284108, Collum, Jr Earle S MD, 8586683700
### Narrative
Specimen Comment: CO-LWC2025-25560530
Specimen Comment: Source...........Cervix
Specimen Comment: Dates / Results....No
Specimen Comment: No. of containers..01 ThinPrep Vial
**Specimen Collected:** 09/12/25 2:16 PM PDT
**Last Resulted:** 09/16/25 4:06 PM PDT
### Health Maintenance
| Topic | Next Due |
|-------|----------|
| Cervical Cancer Screening (Pap/HPV) (Every 5 Years) | 9/12/2030 |
### Authorizing Provider Information
| Field | Value |
|-------|-------|
| Name | Candice Bianca Tilles, MD |
| Fax | 310-453-5586 |
| Phone | 310-829-7878 |
**Reviewer:** Candice Bianca Tilles, MD on 9/16/2025 4:20 PM
---
## US ECHOGRAPHY TRANSVAGINAL
### Results
**US Non-Ob Transvaginal [IMG547]** (Accession 78331686PRV) (Order 1680795087)
**9/16/2025 4:41 PM - Candice Bianca Tilles, MD**
### Narrative & Impression
**Patient Name:** Xuewei Jiang
**Age:** 32 y.o.
**DOB:** 3/13/1993
**Medical Record Number:** 20018501333
**Date of Service:** 9/12/2025
### GYN ULTRASOUND
**Technique:** Utilizing real-time imaging, multiple longitudinal and cross-sectional images were obtained in the supine position, utilizing a transvaginal probe. Computer images were submitted for review.
### Findings
| ORGAN | SIZE (mm) | Findings |
|-------|-----------|----------|
| Uterus | 6.9 x 4.1 x | |
| Endometrial Canal | 5.7 mm | |
| Cervix | | |
| Rt. Ovary | 2.4 x 1.7 x 2.0 cm | |
| Lt. Ovary | 3.2 x 1.8 x 2.4 cm | |
| LESION | NUMBER | LOCATION | SIZE | ECHOGENICITY |
|--------|--------|----------|------|--------------|
| Cysts | | | | |
| Mass | | | | |
**Cul-de-sac Fluid:** NO
**Comments:**
- Day 10 of cycle
- Rt ov - 3 follicles most dominate 1.2 x 1.0 Cm
- Lt ov 6 follicles all < 1 cm
**Electronically Signed by:** PAOLA DE LEON, Ultrasound Tech, 9/12/2025 2:10 PM PDT
**Impression:** I personally reviewed the images, see above for findings.
**Electronically Signed by:** Candice B. Tilles, MD, 9/16/2025 4:41 PM PDT
### Result History
US Non-Ob Transvaginal (Order #1680795087) on 9/16/2025 - Order Result History Report
### Performing Facility
SJPP WOMENS HEALTH PLAYA VISTA
12555 W JEFFERSON BLVD
LOS ANGELES, California 90066-7032
310-822-5066
### Reviewed by
Candice Bianca Tilles, MD - 9/16/2025 4:47 PM

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---
type: genetic-screening
category: carrier-screen
person: Jiang, Xuewei
date: 2025-03-20
provider: Erica T Wang, MD
source: jiang_horizon.pdf
---
# Horizon Carrier Screening Report (Custom Panel) - Xuewei Jiang
## Patient Information
| Field | Value |
|-------|-------|
| Patient Name | Xuewei Jiang |
| Date of Birth | 03/13/1993 |
| Gender | Female |
| Ethnicity | Other |
| Patient ID | N/A |
| Medical Record # | 203300739 |
| Collection Kit | 43606683-2-C |
| Accession ID | N/A |
| Case File ID | 15977489 |
## Test Information
| Field | Value |
|-------|-------|
| Ordering Physician | Erica T Wang, MD |
| Clinic Information | Cedars Sinai-Fertility & Reproductive Medicine Center |
| Phone | 310-423-9964 |
| Report Date | 03/20/2025 |
| Sample Collected | 03/06/2025 |
| Sample Received | 03/07/2025 |
| Sample Type | Blood |
**ORDER SELECTED:** The Horizon Custom panel was ordered for this patient.
---
## Final Results Summary
### Pseudodeficiency VARIANT DETECTED for Glycogen Storage Disease, Type 2 (Pompe Disease)
The pseudodeficiency variant c.1726G>A (p.G576S) was detected in the GAA gene. This pseudodeficiency allele is known to cause false positive results in enzyme-based Glycogen Storage Disease, Type 2 (Pompe Disease) screening in newborns. This benign variant does not increase the risk for Glycogen Storage Disease, Type 2 (Pompe Disease) in this individual's children.
### Negative for 613 out of 613 diseases
No other pathogenic variants were detected in the genes that were screened. The patient's remaining carrier risk after the negative screening results is listed for each disease/gene on the Horizon website at https://www.natera.com/panel-option/h-all/.
Carrier screening is not diagnostic and may not detect all possible pathogenic variants in a given gene.
---
## Key Findings
### Spinal Muscular Atrophy (SMN1)
**SMN1:** Two copies; g.27134T>G absent; the absence of the g.27134T>G variant decreases the chance to be a silent (2+0) carrier.
| Ethnicity | Two SMN1 copies carrier risk before g.27134T>G testing | Carrier risk after g.27134T>G testing (ABSENT) | Carrier risk after g.27134T>G testing (PRESENT) |
|-----------|------------------------------------------------------|-----------------------------------------------|------------------------------------------------|
| Caucasian | 1 in 632 | 1 in 769 | 1 in 29 |
| Ashkenazi Jewish | 1 in 350 | 1 in 580 | LIKELY CARRIER |
| Asian | 1 in 628 | 1 in 702 | LIKELY CARRIER |
| African-American | 1 in 121 | 1 in 396 | 1 in 34 |
| Hispanic | 1 in 1061 | 1 in 1762 | 1 in 140 |
### Fragile X Syndrome (FMR1)
**Negative** - 30 and 29 CGG repeats were detected in the FMR1 genes.
### Fragile XE Syndrome (AFF2)
**Negative** - 18 and 13 CCG repeats were detected in the AFF2 genes.
---
## Diseases Screened - Autosomal Recessive (All Negative Unless Noted)
### 1
- 17-BETA HYDROXYSTEROID DEHYDROGENASE 3 DEFICIENCY (HSD17B3) negative
### 3
- 3-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE II DEFICIENCY (HSD3B2) negative
- 3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY (HMGCL) negative
- 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (HADH) negative
- 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (MCCC1) negative
- 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (MCCC2) negative
- 3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY (PHGDH) negative
### 5
- 5-ALPHA-REDUCTASE DEFICIENCY (SRD5A2) negative
### 6
- 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE (PTPS) DEFICIENCY (PTS) negative
### A
- ABCA4-RELATED CONDITIONS (ABCA4) negative
- ABETALIPOPROTEINEMIA (MTTP) negative
- ACHONDROGENESIS, TYPE 1B (SLC26A2) negative
- ACHROMATOPSIA, CNGB3-RELATED (CNGB3) negative
- ACRODERMATITIS ENTEROPATHICA (SLC39A4) negative
- ACTION MYOCLONUS-RENAL FAILURE (AMRF) SYNDROME (SCARB2) negative
- ACUTE INFANTILE LIVER FAILURE, TRMU-RELATED (TRMU) negative
- ACYL-COA OXIDASE I DEFICIENCY (ACOX1) negative
- AICARDI-GOUTIERES SYNDROME (SAMHD1) negative
- AICARDI-GOUTIERES SYNDROME, RNASEH2A-RELATED (RNASEH2A) negative
- AICARDI-GOUTIERES SYNDROME, RNASEH2B-RELATED (RNASEH2B) negative
- AICARDI-GOUTIERES SYNDROME, RNASEH2C-RELATED (RNASEH2C) negative
- AICARDI-GOUTIERES SYNDROME, TREX1-RELATED (TREX1) negative
- ALKAPTONURIA (HGD) negative
- ALPHA-1 ANTITRYPSIN DEFICIENCY (SERPINA1) negative
- ALPHA-MANNOSIDOSIS (MAN2B1) negative
- ALPHA-THALASSEMIA (HBA1/HBA2) negative
- ALPORT SYNDROME, COL4A3-RELATED (COL4A3) negative
- ALPORT SYNDROME, COL4A4-RELATED (COL4A4) negative
- ALSTROM SYNDROME (ALMS1) negative
- AMISH INFANTILE EPILEPSY SYNDROME (ST3GAL5) negative
- ANDERMANN SYNDROME (SLC12A6) negative
- ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY (AGAT DEFICIENCY) (GATM) negative
- ARGININEMIA (ARG1) negative
- ARGININOSUCCINATE LYASE DEFICIENCY (ASL) negative
- AROMATASE DEFICIENCY (CYP19A1) negative
- ASPARAGINE SYNTHETASE DEFICIENCY (ASNS) negative
- ASPARTYLGLYCOSAMINURIA (AGA) negative
- ATAXIA WITH VITAMIN E DEFICIENCY (TTPA) negative
- ATAXIA-TELANGIECTASIA (ATM) negative
- ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 (MRE11) negative
- ATRANSFERRINEMIA (TF) negative
- AUTISM SPECTRUM, EPILEPSY AND ARTHROGRYPOSIS (SLC35A3) negative
- AUTOIMMUNE POLYGLANDULAR SYNDROME, TYPE 1 (AIRE) negative
- AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS (ARCI), SLC27A4-RELATED (SLC27A4) negative
- AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY (SACS) negative
### B
- BARDET-BIEDL SYNDROME, ARL6-RELATED (ARL6) negative
- BARDET-BIEDL SYNDROME, BBS10-RELATED (BBS10) negative
- BARDET-BIEDL SYNDROME, BBS12-RELATED (BBS12) negative
- BARDET-BIEDL SYNDROME, BBS1-RELATED (BBS1) negative
- BARDET-BIEDL SYNDROME, BBS2-RELATED (BBS2) negative
- BARDET-BIEDL SYNDROME, BBS4-RELATED (BBS4) negative
- BARDET-BIEDL SYNDROME, BBS5-RELATED (BBS5) negative
- BARDET-BIEDL SYNDROME, BBS7-RELATED (BBS7) negative
- BARDET-BIEDL SYNDROME, BBS9-RELATED (BBS9) negative
- BARDET-BIEDL SYNDROME, TTC8-RELATED (TTC8) negative
- BARE LYMPHOCYTE SYNDROME, CIITA-RELATED (CIITA) negative
- BARTTER SYNDROME, BSND-RELATED (BSND) negative
- BARTTER SYNDROME, KCNJ1-RELATED (KCNJ1) negative
- BARTTER SYNDROME, SLC12A1-RELATED (SLC12A1) negative
- BATTEN DISEASE, CLN3-RELATED (CLN3) negative
- BERNARD-SOULIER SYNDROME, TYPE A1 (GP1BA) negative
- BERNARD-SOULIER SYNDROME, TYPE C (GP9) negative
- BETA-HEMOGLOBINOPATHIES (HBB) negative
- BETA-KETOTHIOLASE DEFICIENCY (ACAT1) negative
- BETA-MANNOSIDOSIS (MANBA) negative
- BETA-UREIDOPROPIONASE DEFICIENCY (UPB1) negative
- BILATERAL FRONTOPARIETAL POLYMICROGYRIA (GPR56) negative
- BIOTINIDASE DEFICIENCY (BTD) negative
- BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE (BTBGD) (SLC19A3) negative
- BLOOM SYNDROME (BLM) negative
- BRITTLE CORNEA SYNDROME 1 (ZNF469) negative
- BRITTLE CORNEA SYNDROME 2 (PRDM5) negative
### C
- CANAVAN DISEASE (ASPA) negative
- CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY (CPS1) negative
- CARNITINE DEFICIENCY (SLC22A5) negative
- CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY (CPT1A) negative
- CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY (CPT2) negative
- CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (SLC25A20) negative
- CARPENTER SYNDROME (RAB23) negative
- CARTILAGE-HAIR HYPOPLASIA (RMRP) negative
- CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA (CASQ2) negative
- CD59-MEDIATED HEMOLYTIC ANEMIA (CD59) negative
- CEP152-RELATED MICROCEPHALY (CEP152) negative
- CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA (CEDNIK) SYNDROME (SNAP29) negative
- CEREBROTENDINOUS XANTHOMATOSIS (CYP27A1) negative
- CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C (PLEKHG5) negative
- CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D (NDRG1) negative
- CHEDIAK-HIGASHI SYNDROME (LYST) negative
- CHOREOACANTHOCYTOSIS (VPS13A) negative
- CHRONIC GRANULOMATOUS DISEASE, CYBA-RELATED (CYBA) negative
- CHRONIC GRANULOMATOUS DISEASE, NCF2-RELATED (NCF2) negative
- CILIOPATHIES, RPGRIP1L-RELATED (RPGRIP1L) negative
- CITRIN DEFICIENCY (SLC25A13) negative
- CITRULLINEMIA, TYPE 1 (ASS1) negative
- CLN10 DISEASE (CTSD) negative
- COHEN SYNDROME (VPS13B) negative
- COL11A2-RELATED CONDITIONS (COL11A2) negative
- COMBINED MALONIC AND METHYLMALONIC ACIDURIA (ACSF3) negative
- COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (GFM1) negative
- COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (TSFM) negative
- COMBINED PITUITARY HORMONE DEFICIENCY 1 (POU1F1) negative
- COMBINED PITUITARY HORMONE DEFICIENCY-2 (PROP1) negative
- CONGENITAL ADRENAL HYPERPLASIA, 11-BETA-HYDROXYLASE DEFICIENCY (CYP11B1) negative
- CONGENITAL ADRENAL HYPERPLASIA, 17-ALPHA-HYDROXYLASE DEFICIENCY (CYP17A1) negative
- CONGENITAL ADRENAL HYPERPLASIA, 21-HYDROXYLASE DEFICIENCY (CYP21A2) negative
- CONGENITAL ADRENAL INSUFFICIENCY, CYP11A1-RELATED (CYP11A1) negative
- CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA (MPL) negative
- CONGENITAL CHRONIC DIARRHEA (DGAT1) negative
- CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1, ALG1-RELATED (ALG1) negative
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1A, PMM2-Related (PMM2) negative
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1B (MPI) negative
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1C (ALG6) negative
- CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE 2 (SEC23B) negative
- CONGENITAL FINNISH NEPHROSIS (NPHS1) negative
- CONGENITAL HYDROCEPHALUS 1 (CCDC88C) negative
- CONGENITAL HYPERINSULINISM, KCNJ11-Related (KCNJ11) negative
- CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS (CIPA) (NTRK1) negative
- CONGENITAL MYASTHENIC SYNDROME, CHAT-RELATED (CHAT) negative
- CONGENITAL MYASTHENIC SYNDROME, CHRNE-RELATED (CHRNE) negative
- CONGENITAL MYASTHENIC SYNDROME, COLQ-RELATED (COLQ) negative
- CONGENITAL MYASTHENIC SYNDROME, DOK7-RELATED (DOK7) negative
- CONGENITAL MYASTHENIC SYNDROME, RAPSN-RELATED (RAPSN) negative
- CONGENITAL NEPHROTIC SYNDROME, PLCE1-RELATED (PLCE1) negative
- CONGENITAL NEUTROPENIA, G6PC3-RELATED (G6PC3) negative
- CONGENITAL NEUTROPENIA, HAX1-RELATED (HAX1) negative
- CONGENITAL NEUTROPENIA, VPS45-RELATED (VPS45) negative
- CONGENITAL SECRETORY CHLORIDE DIARRHEA 1 (SLC26A3) negative
- CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS (SLC4A11) negative
- CORTICOSTERONE METHYLOXIDASE DEFICIENCY (CYP11B2) negative
- COSTEFF SYNDROME (3-METHYLGLUTACONIC ACIDURIA, TYPE 3) (OPA3) negative
- CRB1-RELATED RETINAL DYSTROPHIES (CRB1) negative
- CYSTIC FIBROSIS (CFTR) negative
- CYSTINOSIS (CTNS) negative
- CYTOCHROME C OXIDASE DEFICIENCY, PET100-RELATED (PET100) negative
- CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY (POR) negative
### D
- D-BIFUNCTIONAL PROTEIN DEFICIENCY (HSD17B4) negative
- DEAFNESS, AUTOSOMAL RECESSIVE 77 (LOXHD1) negative
- DIHYDROPTERIDINE REDUCTASE (DHPR) DEFICIENCY (QDPR) negative
- DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (DPYD) negative
- DONNAI-BARROW SYNDROME (LRP2) negative
- DUBIN-JOHNSON SYNDROME (ABCC2) negative
- DYSKERATOSIS CONGENITA SPECTRUM DISORDERS (TERT) negative
- DYSKERATOSIS CONGENITA, RTEL1-RELATED (RTEL1) negative
- DYSTROPHIC EPIDERMOLYSIS BULLOSA, COL7A1-Related (COL7A1) negative
### E
- EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY, CAD-RELATED (CAD) negative
- EHLERS-DANLOS SYNDROME TYPE VI (PLOD1) negative
- EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, TNXB-RELATED (TNXB) negative
- EHLERS-DANLOS SYNDROME, TYPE VII C (ADAMTS2) negative
- ELLIS-VAN CREVELD SYNDROME, EVC2-RELATED (EVC2) negative
- ELLIS-VAN CREVELD SYNDROME, EVC-RELATED (EVC) negative
- ENHANCED S-CONE SYNDROME (NR2E3) negative
- EPIMERASE DEFICIENCY (GALACTOSEMIA TYPE III) (GALE) negative
- EPIPHYSEAL DYSPLASIA, MULTIPLE, 7/DESBUQUOIS DYSPLASIA 1 (CANT1) negative
- ERCC6-RELATED DISORDERS (ERCC6) negative
- ERCC8-RELATED DISORDERS (ERCC8) negative
- ETHYLMALONIC ENCEPHALOPATHY (ETHE1) negative
### F
- F2-RELATED CONDITIONS (F2) negative
- F5-RELATED CONDITIONS (F5) negative
- FACTOR XI DEFICIENCY (F11) negative
- FAMILIAL DYSAUTONOMIA (IKBKAP) negative
- FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, PRF1-RELATED (PRF1) negative
- FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, STX11-RELATED (STX11) negative
- FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, STXBP2-RELATED (STXBP2) negative
- FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, UNC13D-RELATED (UNC13D) negative
- FAMILIAL HYPERCHOLESTEROLEMIA, LDLRAP1-RELATED (LDLRAP1) negative
- FAMILIAL HYPERCHOLESTEROLEMIA, LDLR-RELATED (LDLR) negative
- FAMILIAL HYPERINSULINISM, ABCC8-RELATED (ABCC8) negative
- FAMILIAL MEDITERRANEAN FEVER (MEFV) negative
- FAMILIAL NEPHROGENIC DIABETES INSIPIDUS, AQP2-RELATED (AQP2) negative
- FANCONI ANEMIA, GROUP A (FANCA) negative
- FANCONI ANEMIA, GROUP C (FANCC) negative
- FANCONI ANEMIA, GROUP D2 (FANCD2) negative
- FANCONI ANEMIA, GROUP E (FANCE) negative
- FANCONI ANEMIA, GROUP F (FANCF) negative
- FANCONI ANEMIA, GROUP G (FANCG) negative
- FANCONI ANEMIA, GROUP I (FANCI) negative
- FANCONI ANEMIA, GROUP J (BRIP1) negative
- FANCONI ANEMIA, GROUP L (FANCL) negative
- FARBER LIPOGRANULOMATOSIS (ASAH1) negative
- FOVEAL HYPOPLASIA (SLC38A8) negative
- FRASER SYNDROME 1, GRIP1-RELATED (GRIP1) negative
- FRASER SYNDROME, FRAS1-RELATED (FRAS1) negative
- FRASER SYNDROME, FREM2-RELATED (FREM2) negative
- FRIEDREICH ATAXIA (FXN) negative
- FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY (FBP1) negative
- FUCOSIDOSIS, FUCA1-RELATED (FUCA1) negative
- FUMARASE DEFICIENCY (FH) negative
### G
- GABA-TRANSAMINASE DEFICIENCY (ABAT) negative
- GALACTOKINASE DEFICIENCY (GALACTOSEMIA, TYPE II) (GALK1) negative
- GALACTOSEMIA (GALT) negative
- GALACTOSIALIDOSIS (CTSA) negative
- GAUCHER DISEASE (GBA) negative
- GCH1-RELATED CONDITIONS (GCH1) negative
- GDF5-RELATED CONDITIONS (GDF5) negative
- GERODERMA OSTEODYSPLASTICA (GORAB) negative
- GITELMAN SYNDROME (SLC12A3) negative
- GLANZMANN THROMBASTHENIA (ITGB3) negative
- GLUTARIC ACIDEMIA, TYPE 1 (GCDH) negative
- GLUTARIC ACIDEMIA, TYPE 2A (ETFA) negative
- GLUTARIC ACIDEMIA, TYPE 2B (ETFB) negative
- GLUTARIC ACIDEMIA, TYPE 2C (ETFDH) negative
- GLUTATHIONE SYNTHETASE DEFICIENCY (GSS) negative
- GLYCINE ENCEPHALOPATHY, AMT-RELATED (AMT) negative
- GLYCINE ENCEPHALOPATHY, GLDC-RELATED (GLDC) negative
- GLYCOGEN STORAGE DISEASE TYPE 5 (McArdle Disease) (PYGM) negative
- GLYCOGEN STORAGE DISEASE TYPE IXB (PHKB) negative
- GLYCOGEN STORAGE DISEASE TYPE IXC (PHKG2) negative
- GLYCOGEN STORAGE DISEASE, TYPE 1a (G6PC) negative
- GLYCOGEN STORAGE DISEASE, TYPE 1b (SLC37A4) negative
- GLYCOGEN STORAGE DISEASE, TYPE 2 (POMPE DISEASE) (GAA) **see first page**
- GLYCOGEN STORAGE DISEASE, TYPE 3 (AGL) negative
- GLYCOGEN STORAGE DISEASE, TYPE 4 (GBE1) negative
- GLYCOGEN STORAGE DISEASE, TYPE 7 (PFKM) negative
- GRACILE SYNDROME (BCS1L) negative
- GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY (GAMT) negative
### H
- HARLEQUIN ICHTHYOSIS (ABCA12) negative
- HEME OXYGENASE 1 DEFICIENCY (HMOX1) negative
- HEMOCHROMATOSIS TYPE 2A (HFE2) negative
- HEMOCHROMATOSIS, TYPE 3, TFR2-Related (TFR2) negative
- HEPATOCEREBRAL MITOCHONDRIAL DNA DEPLETION SYNDROME, MPV17-RELATED (MPV17) negative
- HEREDITARY FRUCTOSE INTOLERANCE (ALDOB) negative
- HEREDITARY HEMOCHROMATOSIS TYPE 1 (HFE) negative
- HEREDITARY HEMOCHROMATOSIS TYPE 2B (HAMP) negative
- HEREDITARY SPASTIC PARAPARESIS, TYPE 49 (TECPR2) negative
- HEREDITARY SPASTIC PARAPLEGIA, CYP7B1-RELATED (CYP7B1) negative
- HERMANSKY-PUDLAK SYNDROME, AP3B1-RELATED (AP3B1) negative
- HERMANSKY-PUDLAK SYNDROME, BLOC1S3-RELATED (BLOC1S3) negative
- HERMANSKY-PUDLAK SYNDROME, BLOC1S6-RELATED (BLOC1S6) negative
- HERMANSKY-PUDLAK SYNDROME, HPS1-RELATED (HPS1) negative
- HERMANSKY-PUDLAK SYNDROME, HPS3-RELATED (HPS3) negative
- HERMANSKY-PUDLAK SYNDROME, HPS4-RELATED (HPS4) negative
- HERMANSKY-PUDLAK SYNDROME, HPS5-RELATED (HPS5) negative
- HERMANSKY-PUDLAK SYNDROME, HPS6-RELATED (HPS6) negative
- HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (HLCS) negative
- HOMOCYSTINURIA AND MEGALOBLASTIC ANEMIA TYPE CBLG (MTR) negative
- HOMOCYSTINURIA DUE TO DEFICIENCY OF MTHFR (MTHFR) negative
- HOMOCYSTINURIA, CBS-RELATED (CBS) negative
- HOMOCYSTINURIA, Type cbIE (MTRR) negative
- HYDROLETHALUS SYNDROME (HYLS1) negative
- HYPER-IGM IMMUNODEFICIENCY (CD40) negative
- HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA (HHH SYNDROME) (SLC25A15) negative
- HYPERPHOSPHATEMIC FAMILIAL TUMORAL CALCINOSIS, GALNT3-RELATED (GALNT3) negative
- HYPOMYELINATING LEUKODYSTROPHY 12 (VPS11) negative
- HYPOPHOSPHATASIA, ALPL-RELATED (ALPL) negative
### I
- IMERSLUND-GRASBECK SYNDROME 2 (AMN) negative
- IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES (ICF) SYNDROME, DNMT3B-RELATED (DNMT3B) negative
- IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES (ICF) SYNDROME, ZBTB24-RELATED (ZBTB24) negative
- INCLUSION BODY MYOPATHY 2 (GNE) negative
- INFANTILE CEREBRAL AND CEREBELLAR ATROPHY (MED17) negative
- INFANTILE NEPHRONOPHTHISIS (INVS) negative
- INFANTILE NEUROAXONAL DYSTROPHY (PLA2G6) negative
- ISOLATED ECTOPIA LENTIS (ADAMTSL4) negative
- ISOLATED SULFITE OXIDASE DEFICIENCY (SUOX) negative
- ISOLATED THYROID-STIMULATING HORMONE DEFICIENCY (TSHB) negative
- ISOVALERIC ACIDEMIA (IVD) negative
### J
- JOHANSON-BLIZZARD SYNDROME (UBR1) negative
- JOUBERT SYNDROME 2 / MECKEL SYNDROME 2 (TMEM216) negative
- JOUBERT SYNDROME AND RELATED DISORDERS (JSRD), TMEM67-RELATED (TMEM67) negative
- JOUBERT SYNDROME, AHI1-RELATED (AHI1) negative
- JOUBERT SYNDROME, ARL13B-RELATED (ARL13B) negative
- JOUBERT SYNDROME, B9D1-RELATED (B9D1) negative
- JOUBERT SYNDROME, B9D2-RELATED (B9D2) negative
- JOUBERT SYNDROME, C2CD3-RELATED/OROFACIODIGITAL SYNDROME 14 (C2CD3) negative
- JOUBERT SYNDROME, CC2D2A-RELATED/COACH SYNDROME (CC2D2A) negative
- JOUBERT SYNDROME, CEP104-RELATED (CEP104) negative
- JOUBERT SYNDROME, CEP120-RELATED/SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY (CEP120) negative
- JOUBERT SYNDROME, CEP41-RELATED (CEP41) negative
- JOUBERT SYNDROME, CPLANE1-RELATED / OROFACIODIGITAL SYNDROME 6 (CPLANE1) negative
- JOUBERT SYNDROME, CSPP1-RELATED (CSPP1) negative
- JOUBERT SYNDROME, INPP5E-RELATED (INPP5E) negative
- JUNCTIONAL EPIDERMOLYSIS BULLOSA, COL17A1-RELATED (COL17A1) negative
- JUNCTIONAL EPIDERMOLYSIS BULLOSA, ITGA6-RELATED (ITGA6) negative
- JUNCTIONAL EPIDERMOLYSIS BULLOSA, ITGB4-RELATED (ITGB4) negative
- JUNCTIONAL EPIDERMOLYSIS BULLOSA, LAMB3-RELATED (LAMB3) negative
- JUNCTIONAL EPIDERMOLYSIS BULLOSA, LAMC2-RELATED (LAMC2) negative
- JUNCTIONAL EPIDERMOLYSIS BULLOSA/LARYNGOONYCHOCUTANEOUS SYNDROME, LAMA3-RELATED (LAMA3) negative
### K
- KRABBE DISEASE (GALC) negative
### L
- LAMELLAR ICHTHYOSIS, TYPE 1 (TGM1) negative
- LARON SYNDROME (GHR) negative
- LEBER CONGENITAL AMAUROSIS 2 (RPE65) negative
- LEBER CONGENITAL AMAUROSIS TYPE AIPL1 (AIPL1) negative
- LEBER CONGENITAL AMAUROSIS TYPE GUCY2D (GUCY2D) negative
- LEBER CONGENITAL AMAUROSIS TYPE TULP1 (TULP1) negative
- LEBER CONGENITAL AMAUROSIS, IQCB1-RELATED/SENIOR-LOKEN SYNDROME 5 (IQCB1) negative
- LEBER CONGENITAL AMAUROSIS, TYPE CEP290 (CEP290) negative
- LEBER CONGENITAL AMAUROSIS, TYPE LCA5 (LCA5) negative
- LEBER CONGENITAL AMAUROSIS, TYPE RDH12 (RDH12) negative
- LEIGH SYNDROME, FRENCH-CANADIAN TYPE (LRPPRC) negative
- LETHAL CONGENITAL CONTRACTURE SYNDROME 1 (GLE1) negative
- LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (EIF2B5) negative
- LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, EIF2B1-RELATED (EIF2B1) negative
- LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, EIF2B2-RELATED (EIF2B2) negative
- LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, EIF2B3-RELATED (EIF2B3) negative
- LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, EIF2B4-RELATED (EIF2B4) negative
- LIG4 SYNDROME (LIG4) negative
- LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 8 (TRIM32) negative
- LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2A (CAPN3) negative
- LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2B (DYSF) negative
- LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2C (SGCG) negative
- LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2D (SGCA) negative
- LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2E (SGCB) negative
- LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2F (SGCD) negative
- LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2I (FKRP) negative
- LIPOAMIDE DEHYDROGENASE DEFICIENCY (DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY) (DLD) negative
- LIPOID ADRENAL HYPERPLASIA (STAR) negative
- LIPOPROTEIN LIPASE DEFICIENCY (LPL) negative
- LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY (HADHA) negative
- LRAT-RELATED CONDITIONS (LRAT) negative
- LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME (LICS) (NSMCE3) negative
- LYSINURIC PROTEIN INTOLERANCE (SLC7A7) negative
### M-Z (continued - all negative)
The report continues with hundreds more diseases from M through Z, all screened negative. The complete list includes conditions starting with M (MALONYL-COA DECARBOXYLASE DEFICIENCY through MYOTONIA CONGENITA), N (N-ACETYLGLUTAMATE SYNTHASE through NORMOPHOSPHATEMIC TUMORAL CALCINOSIS), O (OCULOCUTANEOUS ALBINISM through OSTEOPETROSIS), P (PANTOTHENATE KINASE through PYRUVATE DEHYDROGENASE DEFICIENCY), R (REFSUM DISEASE through RYR1-RELATED CONDITIONS), S (SALLA DISEASE through SURFACTANT DYSFUNCTION), T (TAY-SACHS DISEASE through TYROSINEMIA), U (USHER SYNDROME variants), V (VERY LONG-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY through VLDLR-ASSOCIATED CEREBELLAR HYPOPLASIA), W (WALKER-WARBURG SYNDROME variants through WOODHOUSE-SAKATI SYNDROME), X (XERODERMA PIGMENTOSUM variants), and Z (ZELLWEGER SPECTRUM DISORDERS).
---
## Diseases Screened - X-Linked (All Negative)
- ADRENAL HYPOPLASIA CONGENITA, X-LINKED (NR0B1) negative
- ADRENOLEUKODYSTROPHY, X-LINKED (ABCD1) negative
- AGAMMAGLOBULINEMIA, X-LINKED (BTK) negative
- ALPHA-THALASSEMIA INTELLECTUAL DISABILITY SYNDROME (ATRX) negative
- ALPORT SYNDROME, X-LINKED (COL4A5) negative
- ANDROGEN INSENSITIVITY SYNDROME (AR) negative
- ARTS SYNDROME (PRPS1) negative
- BARTH SYNDROME (TAZ) negative
- CHARCOT-MARIE-TOOTH DISEASE WITH DEAFNESS, X-LINKED (CMTX1) (GJB1) negative
- CHOROIDEREMIA (CHM) negative
- CHRONIC GRANULOMATOUS DISEASE, X-LINKED (CYBB) negative
- COWCHOCK SYNDROME (AIFM1) negative
- CREATINE TRANSPORTER DEFECT (Cerebral Creatine Deficiency Syndrome 1, X-Linked) (SLC6A8) negative
- DENT DISEASE, TYPE 1 (CLCN5) negative
- DENT DISEASE, TYPE 2/LOWE SYNDROME (OCRL) negative
- DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (ALG13) negative
- DUCHENNE/BECKER MUSCULAR DYSTROPHY (DMD) negative
- DYSKERATOSIS CONGENITA, DKC1-RELATED (DKC1) negative
- EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED (EMD) negative
- EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED (FHL1) negative
- FABRY DISEASE (GLA) negative
- FACTOR IX DEFICIENCY (F9) negative
- FANCONI ANEMIA, GROUP B (FANCB) negative
- FRAGILE X SYNDROME (FMR1) negative - 30 and 29 CGG repeats were detected in the FMR1 genes
- FRAGILE XE SYNDROME (AFF2) negative - 18 and 13 CCG repeats were detected in the AFF2 genes
- GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY (G6PD) negative
- HEMOPHILIA A (F8) negative
- HETEROTAXY SYNDROME, ZIC3-RELATED (ZIC3) negative
- HSD10 DISEASE (HSD17B10) negative
- HYPER IGM SYNDROME, X-LINKED (CD40LG) negative
- HYPOHIDROTIC ECTODERMAL DYSPLASIA, X-LINKED (EDA) negative
- IMMUNE DYSREGULATION, POLYENDOCRINOPATHY, ENTEROPATHY, X-LINKED (IPEX) SYNDROME (FOXP3) negative
- INFANTILE SPINAL MUSCULAR ATROPHY, X-LINKED (UBA1) negative
- ISOLATED LISSENCEPHALY SEQUENCE/SUBCORTICAL BAND HETEROTOPIA (DCX) negative
- JUVENILE RETINOSCHISIS, X-LINKED (RS1) negative
- L1 SYNDROME (L1CAM) negative
- LESCH-NYHAN SYNDROME (HPRT1) negative
- MECP2-RELATED CONDITIONS (MECP2) negative
- MENKES SYNDROME (ATP7A) negative
- METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA TYPE CBLX (HCFC1) negative
- MUCOPOLYSACCHARIDOSIS, TYPE II (HUNTER SYNDROME) (IDS) negative
- MYOTUBULAR MYOPATHY, X-LINKED (MTM1) negative
- NEPHROGENIC DIABETES INSIPIDUS, AVPR2-RELATED (AVPR2) negative
- OPITZ G/BBB SYNDROME, X-LINKED (MID1) negative
- ORNITHINE TRANSCARBAMYLASE DEFICIENCY (OTC) negative
- PLP1 DISORDERS (PLP1) negative
- PYRUVATE DEHYDROGENASE DEFICIENCY, X-LINKED (PDHA1) negative
- RETINITIS PIGMENTOSA 2 (RP2) negative
- RETINITIS PIGMENTOSA, X-LINKED, RPGR-RELATED (RPGR) negative
- SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED (IL2RG) negative
- WISKOTT-ALDRICH SYNDROME (WAS) negative
- X-LINKED CHONDRODYSPLASIA PUNCTATA 1 (ARSL) negative
- X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA (ARX) negative
---
## Testing Methodology, Limitations, and Comments
### Next-generation sequencing (NGS)
Sequencing library prepared from genomic DNA isolated from a patient sample is enriched for targets of interest using standard hybridization capture protocols and PCR amplification (for targets specified below). NGS is then performed to achieve the standards of quality control metrics, including a minimum coverage of 99% of targeted regions at 20X sequencing depth. Sequencing data is aligned to human reference sequence, followed by deduplication, metric collection and variant calling (coding region +/- 20bp). Variants are then classified according to ACMGG/AMP standards of interpretation using publicly available databases including but not limited to ENSEMBL, HGMD Pro, ClinGen, ClinVar, 1000G, ESP and gnomAD. Variants predicted to be pathogenic or likely pathogenic for the specified diseases are reported.
Copy Number Variant (CNV) analysis is limited to deletions involving two or more exons for all genes on the panel, in addition to specific known recurrent single-exon deletions. CNVs of small size may have reduced detection rate. This method does not detect gene inversions, single-exonic and sub-exonic deletions (unless otherwise specified), and duplications of all sizes (unless otherwise specified). Additionally, this method does not define the exact breakpoints of detected CNV events.
### Special Notes
- For ABCC6, sequencing variants in exons 1-7 are not detected due to the presence of regions of high homology.
- For AR, CAG repeat numbers are not assessed.
- For CFTR, when the CFTR R117H variant is detected, reflex analysis of the polythymidine variations (5T, 7T and 9T) at the intron 9 branch/acceptor site of the CFTR gene will be performed. Multi-exon duplication analysis is included.
- For CYP21A2, targets were enriched using long-range PCR amplification, followed by next generation sequencing.
- For DDX11, sequencing variants in exons 7-11 and CNV for the entire gene are not analyzed due to high sequence homology.
- For DMD, multi-exon duplication analysis is included.
- For GJB2, CNV analysis of upstream deletions of GJB6-D13S1830 (309kb deletion) and GJB6-D13S1854 (232kb deletion) is included.
- For HBA1/HBA2, CNV analysis is offered to detect common deletions of -alpha3.7, -alpha4.2, --MED, --SEA, --FIL, --THAI, --alpha20.5, and/or HS-40.
- For HFE, the c.187C>G (H63D) variant will not be reported.
- For MECP2, multi-exon duplication analysis is included.
- For OTOA, sequencing variants in exons 25-29 and CNV in exons 21-29 are not analyzed due to high sequence homology.
- For PLP1, multi-exon duplication analysis is included.
- For RPGR, the exon 15 is enriched using PCR amplification, followed by next generation sequencing.
- For RPGRIP1L, variants in exon 23 are not detected due to assay limitation.
- For SAMD9, only p.K1495E variant will be analyzed and reported.
### Fragile X Repeat Categories
| Categories | CGG Repeat Sizes |
|------------|-----------------|
| Normal | <45 |
| Intermediate | 45 - 54 |
| Premutation | 55 - 200 |
| Full | >200 |
### Fragile XE Repeat Categories
| Categories | CCG Repeat Sizes |
|------------|-----------------|
| Normal | <=30 |
| Intermediate | 31 - 60 |
| Premutation | 61 - 200 |
| Full | >200 |
### Friedreich Ataxia Repeat Categories
| Categories | GAA Repeat Sizes |
|------------|-----------------|
| Normal | <34 |
| Premutation | 34 - 65 |
| Full | >65 |
### Hemophilia A Inversion (F8)
For possible disease-causing inversions, this test will analyze and report only intron 1 inversion and intron 22 inversions of F8 gene. Sequencing and copy number variants for F8 gene are analyzed by next-generation sequencing.
---
**Reviewed by:**
- Christine M. Eng, M.D., Medical Director, Baylor Genetics
- Linyan Meng, Ph.D., Laboratory Director, Baylor Genetics
- J. Dianne Keen-Kim, Ph.D., FACMGG, Senior Laboratory Director, Natera
- Yang Wang, Ph.L., FACMGG, Laboratory Director, Natera
**Performed by:** NSTX, Inc., 13011 McCallen Pass, Building A, Suite 110, Austin, TX 78753 (CLIA ID: 45D2093704) and Baylor Miraca Genetics, DBA Baylor Genetics (CLIA ID 45D0660090)

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---
type: genetic-screening
category: carrier-screen
person: Jiang, Xuewei
date: 2025-03-22
provider: Erica T Wang, MD
source: jiang_horizon_2.pdf
---
# Horizon Carrier Screening Report (Tay-Sachs Enzyme) - Xuewei Jiang
## Patient Information
| Field | Value |
|-------|-------|
| Patient Name | Xuewei Jiang |
| Date of Birth | 03/13/1993 |
| Gender | Female |
| Ethnicity | Not Provided |
| Patient ID | 300751464 |
| Medical Record # | 203300739 |
| Collection Kit | 39903586-2-C |
| Reference ID | 42295489-2-C |
| Accession ID | 676807056 |
| Case File ID | 15637926 |
## Test Information
| Field | Value |
|-------|-------|
| Ordering Physician | Erica T Wang, MD |
| Clinic Information | Cedars Sinai-Fertility & Reproductive Medicine Center |
| Phone | 310-423-9964 |
| Report Date | 03/22/2025 |
| Sample Collected | 03/06/2025 |
| Sample Received | 03/07/2025 |
| Sample Type | Blood |
## Final Results Summary
**NEGATIVE FOR Tay-Sachs Disease (enzyme only)**
Please see following page for Hexosaminidase A values.
**ORDER SELECTED:** Tay-Sachs Enzyme was ordered for this patient.
### Recommendations
Individuals who would like to review their Horizon report with a Natera Laboratory Genetic Counselor may schedule a telephone genetic information session by calling 650-249-9090 or visiting naterasession.com. Clinicians with questions may contact Natera at 650-249-9090, 855-866-6478 (toll free) or email support@natera.com.
---
## Diseases Screened
### Autosomal Recessive
**Tay-Sachs Disease (enzyme only)**
- **Negative:** Normal Hexosaminidase Activity. WBC: 3772.00 nmol/hr/mg; Hex A %. WBC 62.90.
---
## Testing Methodology, Limitations, and Comments: Tay-Sachs Disease Enzyme Analysis
A small percentage (<0.7 %) of Tay-Sachs disease carriers may be identified as non-carriers by this assay (Triggs-Raine et al. NEJM 1990). In addition, Tay-Sachs disease patients or carriers with certain genetic variants such as AB variant (OMIM 272750) and B1 variant (OMIM 272800) will not be detected by this method. Methodology: This enzyme assay determines total hexosaminidase and hexosaminidase A activities in leukocytes. The hexosaminidase activities are measured before and after heat inactivation using a fluorescence-generating 4-methylumbelliferyl-N-acetyl-B-D-glucosaminide substrate. Thermal fractionation of hexosaminidase is calculated to differentiate Tay-Sachs disease carriers from non-carriers. This test was performed by Baylor Miraca Genetics Laboratories, DBA Baylor Genetics, 2450 Holcombe Blvd, Ste O104, Houston, TX 77021 (CLIA ID 45D0660090). The performance characteristics of this test were developed by Baylor Miraca Genetics, DBA Baylor Genetics. It has not been cleared or approved by the FDA. The laboratory is regulated under CLIA as qualified to perform high-complexity testing. This test is used for clinical purposes. It should not be regarded as investigational or for research.
### Tay-Sachs Disease (Hex A % Carrier Ranges)
| Specimen | Carrier Range (%) | Non-Carrier Range (%) |
|----------|------------------|-----------------------|
| White Blood Cells (WBC) | < 49 | 55.0-75.0 |
### Negative Results
A negative carrier screening result reduces the risk for a patient to be a carrier of a specific disease but does not completely rule out carrier status. Any patient with a family history for a specific genetic disease will have a higher carrier risk prior to testing and if the disease-causing variant in their family is not included on the test, their carrier risk remains unchanged. Genetic counseling is recommended for patients with a family history of genetic disease so that risk figures based on actual family history can be determined and discussed along with potential implications for reproduction.
### Additional Comments
Horizon carrier screening (3.2.1) has been developed to identify the reproductive risks for monogenic inherited conditions. Even when one or both members of a couple screen negative for pathogenic variants in a specific gene, the disease risk for their offspring is not zero. There is still a low risk for the condition in their offspring due to a number of different mechanisms that are not detected by Horizon, including but not limited to, pathogenic variant(s) in the tested gene or in a different gene not included on Horizon, pathogenic variant(s) in an upstream regulator, uniparental disomy, de novo mutation(s), or digenic or polygenic inheritance. Infrequent large genetic deletions or duplications are not detected unless they have been specifically targeted for carrier testing.
This test was developed and its performance characteristics determined by Baylor Miraca Genetics Laboratories DBA Baylor Genetics (CAP# 2109314/ CLIA# 45D0660090). Data review and reporting were performed by Natera and NSTX, 13011 McCallen Pass, Building A, Suite 110, Austin, TX 78753 (CLIA ID: 45D2093704). These tests have not been cleared or approved by the U.S. Food and Drug Administration (FDA). These analyses generally provide highly accurate information regarding the patient's carrier status; however, there are many potential sources of diagnostic error, including misidentification of samples, polymorphisms, or other rare genetic variants that interfere with analysis. Families should understand that rare diagnostic errors may occur for these reasons.
---
## Detailed Results and Interpretations
### TAY-SACHS ENZYME
**Tay Sachs Disease Carrier Testing**
| Sample | %HexosaminidaseA | Total Activity (nmoles/hr/mg protein) |
|--------|-----------------|---------------------------------------|
| Jiang, Xuewei | 62.9 | 3772 |
| Normal Range | 55.0-75.0 | 1023-1961 |
| Carrier Range | 34.0-49.0 | 870-1705 |
**INTERPRETATION:** Non-Carrier: Within the limits of this test this patient is NOT a carrier for Tay Sachs Disease.
**Results Date:** 03/13/2025
---
**Reviewed by:** Yang Wang, Ph.D., FACMGG, Laboratory Director
**CLIA Laboratory Director:** J. Dianne Keen-Kim, Ph.D., FACMG
**Performed by:** Natera, Inc. 201 Industrial Rd. Suite 410, San Carlos, CA 94070 (CLIA ID 05D1082992)

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---
type: imaging
category: hysterosalpingogram
person: Jiang, Erica (Xuewei)
date: 2024-02-05
provider: Candice B. Tilles, MD
source: jiang_hsg_2024.PDF
---
# FL Hysterosalpingogram - Erica Jiang
**Patient:** Erica Jiang | **DOB:** 3/13/1993 | **MRN:** 20018501333 | **PCP:** Kimberley H. Chan, MD
**Source:** MyChart - Test Details (mychartor.providence.org)
---
## Provider Message
**Candice B. Tilles, MD** - 02/6/2024, 12:07 AM
> Hi Erica,
>
> The HSG was normal - your fallopian tubes were open. As we discussed, please come see me on cycle day 3 to do an ultrasound and blood work.
>
> Dr Tilles
---
## Results
**FL Hysterosalpingogram [IMG893]** (Accession 56401140PRV) (Order 1615550240)
### Comments From the Doctor's Office
> Hi Erica,
>
> The HSG was normal - your fallopian tubes were open. As we discussed, please come see me on cycle day 3 to do an ultrasound and blood work.
>
> Dr Tilles
Written by Candice B. Tilles, MD on 2/5/2024 4:07 PM PST
Seen by patient Erica Jiang on 2/9/2025 9:33 AM
**2/5/2024 1:44 PM - Edi, 772303**
### Narrative
FL HYSTEROSALPINGOGRAM
| Field | Value |
|-------|-------|
| Examination Date and Time | 2/5/2024 11:00 AM |
| Comparison | none |
| Indication | dysmenorrhea, family planning |
### Findings
Examination was explained to the patient in detail. She denies allergy to Betadine. Speculum gently placed. Cervix cleaned with Betadine x3. Flexible 5.5 French catheter was placed in the lower uterine segment and the balloon was expanded. Nonionic contrast was gently administered. The uterine cavity is normal. The fallopian tubes are normal. Spill is elicited bilaterally. Fluoroscopy time 0.1 minute, total 9 images.
### Impression
**IMPRESSION:** Normal hysterosalpingogram.
Electronically signed by: Vicki Schiller on 2/5/2024 1:41 PM
### Result History
FL Hysterosalpingogram (Order #1615550240) on 2/5/2024 - Order Result History Report
### Performing Facility
PROVIDENCE SAINT JOHN'S HEALTH CTR
2121 Santa Monica Blvd
Santa Monica, California 90404-2303
310-829-8814
### Reviewed by
Candice Bianca Tilles, MD - 2/5/2024 4:07 PM

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---
type: insurance
category: medical-insurance-card
person: Jiang, Erica (Xuewei)
provider: Aetna
source: jiang_medical_insurance_card.png
---
# Medical Insurance Card - Erica Jiang (Xuewei)
## Member and Network Information for Providers
| Field | Value |
|-------|-------|
| Group # | 16426 |
| Network | Aetna Network |
| Member | YANXIN LU |
| Member ID | 3928092626 |
| Dependent | XUEWEI JIANG |
| Network | Aetna Choice POS II |
| Plan | EPO |
| Claims Payor | Mertian Health |
| | For Subscriber, see reverse |
### Cost Share
| Service | Cost |
|---------|------|
| Office Visit | $15 |
| Specialist | $15 |
| Urgent Care | $15 |
| ER | $110 |
| INV OOP $6,000/Family | |
---
## Pharmacy Plan
| Field | Value |
|-------|-------|
| Logo | CVS Caremark |
| RXPCN | ADV |
| RXBIN | 004336 |
| RXGRP | RX2543 |
---
## Providers Only
| Field | Value |
|-------|-------|
| Provider Service | 888 632 3862 |
| Precertification | 866 415 6831 |
| Member | 844 246 4511 |
| Pre-Certified Svc | 877 344 3256 |
---
## Member Support
| Field | Value |
|-------|-------|
| Call Insurance Company Concerns at | 844 287 3866 |
| www.aetna.com | |
| if member accessible | |
| Download Aetna Mobile to send a secure message with questions about eligibility, claims and plan benefits. | |
| Available by phone 24/7 | |
---
## Claims Submission / Appeals
**Mail All Claims & Correspondence to:**
Mertian Health, PO Box 853921
Richardson, TX 75085-3921
**EDI:** AetnaMyMedAdv/EnvisionChange
Healthcare 41124 or MedAdvantage/
Health 17181
**Mail All Appeal Correspondence to:**
Mertian Health, PO Box 27881
Philadelphia PA 19134-2881
---
## Precertification
For a referral to see a specialist, a primary care doctor may require precertification. Without precertification, you may have a higher copay. For a list of services that require precertification and to request precertification, call 866.415.6831 or comply with your plan's precertification requirements. To determine if a service requires precertification, Call Progyny at 844.734.8586 to Pre-certify and enhance any fertility benefits.
---
## Elected into the NY Pool
Aetna participating Doctors and Hospitals are independent providers and are neither agents nor employees of Aetna.
**Network:** First Health Network

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---
type: lab-results
category: annual-physical
person: Jiang, Erica (Xuewei)
date: 2025-11-04
provider: Elizabeth Spence, DO
source: jiang_physical_nov_2025.pdf
---
# Physical November 2025 - Erica Jiang
**Patient:** Erica Jiang | **DOB:** 3/13/1993 | **MRN:** 20018501333 | **PCP:** Elizabeth Spence, DO
**Source:** MyChart - Test Details (mychartor.providence.org)
---
## Provider Message
**Elizabeth Spence, DO** - 11/7/2025, 12:52 PM
> Your labs look great! Your kidneys, liver, electrolytes, cholesterol, diabetes screen, blood count (white blood cells, red blood cells and platelets) and thyroid are all within normal range. HIV and Hep C screen is negative. Please don't be concerned if your results are a little lower or higher than the normal range as this is common for most healthy people.
> If you have questions let me know
> Elizabeth Spence, DO
---
## CBC W/DIFFERENTIAL
**Collected on:** Nov 04, 2025 8:10 AM
| Test | Value | Unit | Normal Range | Flag |
|------|-------|------|--------------|------|
| WBC | 4.4 | x10E3/uL | 3.4 - 10.8 | |
| Red Blood Cells | 4.26 | x10E6/uL | 3.77 - 5.28 | |
| Hemoglobin | 13.5 | g/dL | 11.1 - 15.9 | |
| Hct | 41.9 | % | 34.0 - 46.6 | |
| MCV | 98 | fL | 79 - 97 | High |
| MCH | 31.7 | pg | 26.6 - 33.0 | |
| MCHC | 32.2 | g/dL | 31.5 - 35.7 | |
| RDW | 12.3 | % | 11.7 - 15.4 | |
| Platelet Count | 209 | x10E3/uL | 150 - 450 | |
| % Neutrophils | 51 | % | Not Estab. | |
| % Lymphocytes | 39 | % | Not Estab. | |
| % Monocytes | 8 | % | Not Estab. | |
| % Eosinophils | 1 | % | Not Estab. | |
| % Basophils | 1 | % | Not Estab. | |
| Absolute Neutrophils | 2.3 | x10E3/uL | 1.4 - 7.0 | |
| Absolute Lymphocytes | 1.7 | x10E3/uL | 0.7 - 3.1 | |
| Absolute Monocytes | 0.4 | x10E3/uL | 0.1 - 0.9 | |
| Absolute Eosinophils | 0 | x10E3/uL | 0.0 - 0.4 | |
| Absolute Basophils | 0 | x10E3/uL | 0.0 - 0.2 | |
| % Immature Granulocytes | 0 | % | Not Estab. | |
| Absolute Immature Granulocytes | 0 | x10E3/uL | 0.0 - 0.1 | |
| Field | Value |
|-------|-------|
| Ordering provider | Elizabeth Spence, DO |
| Collection date | Nov 04, 2025 8:10 AM |
| Specimens | Blood |
| Result date | Nov 06, 2025 7:05 PM |
| Result status | Final |
| Resulting lab | REFERENCE LAB LABCORP |
**Performed At:** 13112 Evening Creek Drive South, San Diego CA 92128, 858-668-3700
**Lab Director:** Jenny Galloway, MD
---
## COMPREHENSIVE METABOLIC PANEL
**Collected on:** Nov 04, 2025 8:10 AM
| Test | Value | Unit | Normal Range | Flag |
|------|-------|------|--------------|------|
| Glucose | 91 | mg/dL | 70 - 99 | |
| BUN | 13 | mg/dL | 6 - 20 | |
| Creatinine | 0.74 | mg/dL | 0.57 - 1.00 | |
| eGFR | 110 | mL/min/1.73 | >59 | |
| BUN/Creatinine Ratio | 18 | | 9 - 23 | |
| Sodium | 137 | mmol/L | 134 - 144 | |
| Potassium | 4.4 | mmol/L | 3.5 - 5.2 | |
| Chloride | 105 | mmol/L | 96 - 106 | |
| Carbon dioxide | 22 | mmol/L | 20 - 29 | |
| Calcium | 9.5 | mg/dL | 8.7 - 10.2 | |
| Protein, Total | 7.3 | g/dL | 6.0 - 8.5 | |
| Albumin | 4.5 | g/dL | 3.9 - 4.9 | |
| Globulin, Total | 2.8 | g/dL | 1.5 - 4.5 | |
| Bilirubin, Total | 0.8 | mg/dL | 0.0 - 1.2 | |
| ALK PHOS | 53 | IU/L | 41 - 116 | |
| AST (SGOT) (REF) | 16 | IU/L | 0 - 40 | |
| ALT (SGPT) (REF) | 11 | IU/L | 0 - 32 | |
| Field | Value |
|-------|-------|
| Ordering provider | Elizabeth Spence, DO |
| Collection date | Nov 04, 2025 8:10 AM |
| Specimens | Blood |
| Result date | Nov 06, 2025 7:05 PM |
| Result status | Final |
| Resulting lab | REFERENCE LAB LABCORP |
**Performed At:** 13112 Evening Creek Drive South, San Diego CA 92128, 858-668-3700
**Lab Director:** Jenny Galloway, MD
---
## GLYCO HGB (Hemoglobin A1c)
**Collected on:** Nov 04, 2025 8:10 AM
| Test | Value | Unit | Normal Range | Flag |
|------|-------|------|--------------|------|
| Hemoglobin A1c | 5.4 | % | 4.8 - 5.6 | |
| Estimated Average Glucose | 108 | mg/dL | | |
Prediabetes: 5.7 - 6.4
Diabetes: >6.4
Glycemic control for adults with diabetes: <7.0
| Field | Value |
|-------|-------|
| Ordering provider | Elizabeth Spence, DO |
| Collection date | Nov 04, 2025 8:10 AM |
| Specimens | Blood |
| Result date | Nov 06, 2025 7:05 PM |
| Result status | Final |
| Resulting lab | REFERENCE LAB LABCORP |
**Performed At:** 13112 Evening Creek Drive South, San Diego CA 92128, 858-668-3700
**Lab Director:** Jenny Galloway, MD
---
## HEPATITIS C VIRUS RNA, PCR, QUANTITATIVE (REFLEX TO GEN)
**Collected on:** Nov 04, 2025 8:10 AM
| Test | Value | Unit | Normal Value |
|------|-------|------|-------------|
| HCV Quantitative | HCV Not Detected | IU/mL | |
| HCV-LOG 10 | CANCELED | log10 IU/mL | |
| TEST INFORMATION | Comment | | |
| HCV Genotype | CANCELED | | |
**HCV-LOG 10 Note:** Unable to calculate result since non-numeric result obtained for component test. Result canceled by the ancillary.
**HCV Genotype Note:** Not indicated. Result canceled by the ancillary.
**TEST INFORMATION Comment:** The quantitative range of this assay is 15 IU/mL to 100 million IU/mL.
| Field | Value |
|-------|-------|
| Ordering provider | Elizabeth Spence, DO |
| Collection date | Nov 04, 2025 8:10 AM |
| Specimens | Blood |
| Result date | Nov 06, 2025 7:05 PM |
| Result status | Final (Edited) |
| Resulting lab | REFERENCE LAB LABCORP |
**Performed At:** 13112 Evening Creek Drive South, San Diego CA 92128, 858-668-3700
**Lab Director:** Jenny Galloway, MD
---
## HIV AG/AB, 4TH GEN, REFLEX
**Collected on:** Nov 04, 2025 8:10 AM
| Test | Value | Normal Value |
|------|-------|-------------|
| HIV 1/2 Ab and P24 Ag | Non Reactive | Non Reactive |
HIV-1/HIV-2 antibodies and HIV-1 p24 antigen were NOT detected.
There is no laboratory evidence of HIV infection.
HIV Negative
| Field | Value |
|-------|-------|
| Ordering provider | Elizabeth Spence, DO |
| Collection date | Nov 04, 2025 8:10 AM |
| Specimens | Blood |
| Result date | Nov 06, 2025 7:05 PM |
| Result status | Final |
| Resulting lab | REFERENCE LAB LABCORP |
**Performed At:** 13112 Evening Creek Drive South, San Diego CA 92128, 858-668-3700
**Lab Director:** Jenny Galloway, MD
---
## LIPID PANEL
**Collected on:** Nov 04, 2025 8:10 AM
| Test | Value | Unit | Normal Range | Flag |
|------|-------|------|--------------|------|
| Cholesterol | 145 | mg/dL | 100 - 199 | |
| Triglycerides | 39 | mg/dL | 0 - 149 | |
| HDL Cholesterol | 58 | mg/dL | >39 | |
| VLDL Cholesterol Cal | 9 | mg/dL | 5 - 40 | |
| LDL, Calculated | 78 | mg/dL | 0 - 99 | |
| Field | Value |
|-------|-------|
| Ordering provider | Elizabeth Spence, DO |
| Collection date | Nov 04, 2025 8:10 AM |
| Specimens | Blood |
| Result date | Nov 06, 2025 7:05 PM |
| Result status | Final |
| Resulting lab | REFERENCE LAB LABCORP |
**Performed At:** 13112 Evening Creek Drive South, San Diego CA 92128, 858-668-3700
**Lab Director:** Jenny Galloway, MD
---
## TSH, REFLEX FREE T4
**Collected on:** Nov 04, 2025 8:10 AM
| Test | Value | Unit | Normal Range | Flag |
|------|-------|------|--------------|------|
| TSH | 3.09 | uIU/mL | 0.450 - 4.500 | |
**Performed At: 01**
Labcorp San Diego
13112 Evening Creek Dr So Ste 200
San Diego, CA 921284108
Collum, Jr Earle S MD
8586683700
**Performed At: 02**
Labcorp Burlington
1447 York Court
Burlington, NC 272153361
Nagendra Sanjai MD
8007624344
| Field | Value |
|-------|-------|
| Ordering provider | Elizabeth Spence, DO |
| Collection date | Nov 04, 2025 8:10 AM |
| Specimens | Blood |
| Result date | Nov 06, 2025 7:05 PM |
| Result status | Final |
| Resulting lab | REFERENCE LAB LABCORP |
**Performed At:** 13112 Evening Creek Drive South, San Diego CA 92128, 858-668-3700
**Lab Director:** Jenny Galloway, MD

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---
type: lab-results
category: blood-work
person: Jiang, Erica (Xuewei)
date: 2025-03-06
provider: Erica T. Wang, MD
source: jiang_血检.pdf
---
# Blood Tests - Erica Jiang
**Patient:** ERICA Jiang | **DOB:** 3/13/1993 | **MRN:** 203300739 | **PCP:** No Pcp | **Legal Name:** Xuewei Jiang
**Source:** My CS-Link - Test Details (https://mycslink.cedars-sinai.org/mycslink/app/test-results/details)
---
## ANTI-MULLERIAN HORMONE (AMH), SERUM
**Collected on:** Mar 06, 2025 9:55 AM
| Test | Value | Unit | Normal Range |
|------|-------|------|--------------|
| Anti-Mullerian Hormone (AMH) | 2.119 | ng/mL | 0.176 - 11.705 |
### Interpretive Information: Anti-Mullerian Hormone
**FEMALE:**
| Age Group | Reference Range |
|-----------|----------------|
| 6 months - 14 years | 0.256 - 6.345 ng/mL |
| 15-17 years | 0.861 - 10.451 ng/mL |
| 18-29 years | 0.401 - 16.015 ng/mL |
| 30-39 years | 0.176 - 11.705 ng/mL |
| 40-45 years | 6.282 ng/mL or less |
| 46-50 years | 0.064 ng/mL or less |
| Post-menopausal | 0.003 ng/mL or less |
**MALE:**
| Age Group | Reference Range |
|-----------|----------------|
| 6-11 months | 56.677 - 495.299 ng/mL |
| 1-6 years | 33.442 - 342.450 ng/mL |
| 7-9 years | 20.245 - 189.781 ng/mL |
| 10-12 years | 2.903 - 178.243 ng/mL |
| 13 years and older | 2.079 - 30.656 ng/mL |
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
**Performed By:** ARUP Laboratories, 500 Chipeta Way, Salt Lake City, UT 84108
**Laboratory Director:** Jonathan R. Genzen, MD, PhD
**CLIA Number:** 46 D0523979
**Authorizing provider:** Erica T. Wang, MD
**Collection date:** Mar 06, 2025 9:55 AM
**Specimens:** Blood (Blood)
**Result date:** Mar 11, 2025 10:39 AM
**Result status:** Final
**Resulting lab:** CEDARS-SINAI MED CTR DEPT OF PATHOLOGY & LAB MEDICINE, 8700 Beverly Blvd., Los Angeles CA 90048
**Lab director:** Anders H. Berg, M.D.-Ph.D.
**CLIA #:** 05D0541033
---
## CHLAMYDIA (CT)/GONOCOCCUS (GC), NAA
**Collected on:** Mar 06, 2025 9:55 AM
| Test | Value | Normal Value |
|------|-------|-------------|
| Source | URINE | - |
| C trachomatis Result | NEGATIVE | NEGATIVE |
| N Gonorrhoeae Result | NEGATIVE | NEGATIVE |
Chlamydia trachomatis DNA, if present, could not be detected.
Neisseria gonorrhoeae DNA, if present, could not be detected.
A negative result does not preclude the presence of Chlamydia trachomatis and/or Neisseria gonorrhoeae infection because results depend on adequate specimen collection, absence of inhibitors, and sufficient DNA to be detected.
**Authorizing provider:** Erica T. Wang, MD
**Collection date:** Mar 06, 2025 9:55 AM
**Result date:** Mar 06, 2025 9:59 PM
**Result status:** Final
**Resulting lab:** CEDARS-SINAI MED CTR DEPT OF PATHOLOGY & LAB MEDICINE, 8700 Beverly Blvd., Los Angeles CA 90048
**Lab director:** Anders H. Berg, M.D.-Ph.D.
**CLIA #:** 05D0541033
---
## ESTRADIOL
**Collected on:** Mar 06, 2025 9:55 AM
| Test | Value | Unit |
|------|-------|------|
| Estradiol | <24 | pg/mL |
### Estradiol Reference Range
| Group | Reference Range |
|-------|----------------|
| Adult Males | 11-44 pg/mL |
| Normal Menstruating Females - Follicular Phase | 21-251 pg/mL |
| Normal Menstruating Females - Mid-Cycle Phase | 38-649 pg/mL |
| Normal Menstruating Females - Luteal Phase | 21-312 pg/mL |
| Postmenopausal Females not on Hormone Replacement Therapy | <28 pg/mL |
Patients treated with Mifepristone should NOT be tested with the ARCHITECT or ALINITY I Estradiol assay for up to two weeks based on information available regarding Mifepristone's bioavailability.
If the patient is on aromatase inhibitors there is a potential for positive interference. Please use an alternate methodology such as liquid chromatography mass spectrometry (LC/MS).
**Authorizing provider:** Erica T. Wang, MD
**Collection date:** Mar 06, 2025 9:55 AM
**Specimens:** Blood (Blood)
**Result date:** Mar 06, 2025 2:33 PM
**Result status:** Final
**Resulting lab:** CEDARS-SINAI MED CTR DEPT OF PATHOLOGY & LAB MEDICINE, 8700 Beverly Blvd., Los Angeles CA 90048
**Lab director:** Anders H. Berg, M.D.-Ph.D.
**CLIA #:** 05D0541033
---
## FSH
**Collected on:** Mar 06, 2025 9:55 AM
| Test | Value | Unit |
|------|-------|------|
| Follicle Stimulating Hormone | 5.9 | MIU/ML |
### FSH Reference Range
| Group | Reference Range |
|-------|----------------|
| Males | 1.0 to 12.0 mIU/mL |
| Normally Menstruating Females - Follicular Phase | 3.0 to 8.0 mIU/mL |
| Normally Menstruating Females - Mid Cycle Phase | 2.6 to 16.7 mIU/mL |
| Normally Menstruating Females - Luteal Phase | 1.4 to 5.5 mIU/mL |
| Post Menopausal | 26.7 to 133.4 mIU/mL |
Reference interval adopted from Abbott Laboratories.
**Authorizing provider:** Erica T. Wang, MD
**Collection date:** Mar 06, 2025 9:55 AM
**Specimens:** Blood (Blood)
**Result date:** Mar 06, 2025 2:33 PM
**Result status:** Final
**Resulting lab:** CEDARS-SINAI MED CTR DEPT OF PATHOLOGY & LAB MEDICINE, 8700 Beverly Blvd., Los Angeles CA 90048
**Lab director:** Anders H. Berg, M.D.-Ph.D.
**CLIA #:** 05D0541033
---
## HEPATITIS B SURFACE ANTIGEN
**Collected on:** Mar 06, 2025 9:55 AM
| Test | Value | Normal Value |
|------|-------|-------------|
| Hepatitis B Surface Antigen | NEG | NEG |
NOTE: Testing method for Hep B Surface Ag is CMIA performed on the Abbott Alinity.
**Authorizing provider:** Erica T. Wang, MD
**Collection date:** Mar 06, 2025 9:55 AM
**Specimens:** Blood (Blood)
**Result date:** Mar 06, 2025 2:40 PM
**Result status:** Final
**Resulting lab:** CEDARS-SINAI MED CTR DEPT OF PATHOLOGY & LAB MEDICINE, 8700 Beverly Blvd., Los Angeles CA 90048
**Lab director:** Anders H. Berg, M.D.-Ph.D.
**CLIA #:** 05D0541033
---
## HEPATITIS C ANTIBODY
**Collected on:** Mar 06, 2025 9:55 AM
| Test | Value | Unit | Normal Value |
|------|-------|------|-------------|
| Hepatitis C Antibody | 0.10 | S/CO | <0.80 S/CO |
Results for Anti-HCV are now reported using signal-to-cutoff (S/CO) ratio.
### Interpretation
| S/CO Ratio | Interpretation |
|------------|---------------|
| >= 1.00 | POSITIVE |
| 0.80 to 0.99 | INTERMEDIATE |
| 0.00 to 0.79 | NEGATIVE |
To reduce the incidence of false positive results, the CDC recommends that all S/CO ratios between 1.00 and 4.99 be confirmed with additional PCR testing.
NOTE: Testing method for Hepatitis C Antibody is CMIA performed on the Abbott Alinity.
**Authorizing provider:** Erica T. Wang, MD
**Collection date:** Mar 06, 2025 9:55 AM
**Specimens:** Blood (Blood)
**Result date:** Mar 06, 2025 2:30 PM
**Result status:** Final
**Resulting lab:** CEDARS-SINAI MED CTR DEPT OF PATHOLOGY & LAB MEDICINE, 8700 Beverly Blvd., Los Angeles CA 90048
**Lab director:** Anders H. Berg, M.D.-Ph.D.
**CLIA #:** 05D0541033
---
## HIV ANTIGEN/ANTIBODY COMBO TEST
**Collected on:** Mar 06, 2025 9:55 AM
| Test | Value | Normal Value |
|------|-------|-------------|
| HIV Ag/Ab Combo | NEG | NEG |
**Authorizing provider:** Erica T. Wang, MD
**Collection date:** Mar 06, 2025 9:55 AM
**Specimens:** Blood (Blood)
**Result date:** Mar 06, 2025 2:30 PM
**Result status:** Final
**Resulting lab:** CEDARS-SINAI MED CTR DEPT OF PATHOLOGY & LAB MEDICINE, 8700 Beverly Blvd., Los Angeles CA 90048
**Lab director:** Anders H. Berg, M.D.-Ph.D.
**CLIA #:** 05D0541033
---
## TREPONEMA PALLIDUM ANTIBODIES, REFLEX TO CONFIRM
**Collected on:** Mar 06, 2025 9:55 AM
| Test | Value | Normal Value |
|------|-------|-------------|
| Syphilis, T. Pallidum Interpretation | NONREACTIVE | NONREACTIVE |
**Authorizing provider:** Erica T. Wang, MD
**Collection date:** Mar 06, 2025 9:55 AM
**Specimens:** Blood (Blood)
**Result date:** Mar 06, 2025 2:29 PM
**Result status:** Final
**Resulting lab:** CEDARS-SINAI MED CTR DEPT OF PATHOLOGY & LAB MEDICINE, 8700 Beverly Blvd., Los Angeles CA 90048
**Lab director:** Anders H. Berg, M.D.-Ph.D.
**CLIA #:** 05D0541033
---
## TYPE & SCREEN
**Collected on:** Mar 06, 2025 9:55 AM
| Test | Value |
|------|-------|
| Specimen Expiration | 03/09/2025,2359 |
| ABO/Rho(D) | B POSITIVE |
| Antibody Screen | NEGATIVE |
| Confirm ABO | Ref. Lab. Patient |
| Female Rh Type | State law requires that the woman being tested be informed, by her physician, of her Rho(D) typing results. |
**Authorizing provider:** Erica T. Wang, MD
**Collection date:** Mar 06, 2025 9:55 AM
**Result date:** Mar 06, 2025 5:13 PM
**Result status:** Final
**Resulting lab:** CEDARS-SINAI MED CTR DEPT OF PATHOLOGY & LAB MEDICINE, 8700 Beverly Blvd., Los Angeles CA 90048
**Lab director:** Anders H. Berg, M.D.-Ph.D.
**CLIA #:** 05D0541033
---
## US PELVIS LIMITED
### Results
**Wang, Erica T., MD** 3/6/2025 10:30 AM
**Attending:** Wang
**Probe Number:** F9
**Ultrasound Route:** Transvaginal
**Patient name:** ERICA Jiang
**MRN:** 203300739
**Date of birth:** 3/13/1993
**Patient's age:** 31 year old
**Date of service:** 3/6/2025
### Right Ovary
| Parameter | Value |
|-----------|-------|
| Dimensions | 2.81 x 1.65 x 2.81 cm |
| Comments | no cysts, LF 11.1 x 10.0 mm |
| Follicle number | 7 |
### Left Ovary
| Parameter | Value |
|-----------|-------|
| Dimensions | 2.63 x 1.37 x 3.41 cm |
| Comments | no cysts, LF 8.8 mm |
| Follicle number | 4 |
### Uterus
| Parameter | Value |
|-----------|-------|
| Dimensions | 5.79 x 4.38 x 5.39 cm |
| Endometrium thickness | 4.54 mm |
**Impression:** normal uterus, no ovarian cysts, AFC 7+4
**Holden performed and interpreted the ultrasound**
**Authorizing provider:** Marissa Holden
**Result date:** Mar 06, 2025 10:00 AM
**Result status:** Final

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---
type: lab-results
category: medical
person: Yanxin Lu
date: 2025-08-18
provider: ReproSource Fertility Diagnostics / Center for Male Reproductive Medicine
clinician: Philip Werthman, MD
source: lu_SA_DFI_08_2025.pdf
---
# Yanxin Lu — ReproSource Advanced Semen Report & Werthman Semen Analysis (08/2025)
## Page 1: ReproSource Advanced Semen Report
**ReproSource Fertility Diagnostics**
200 Forest Street, 2nd Floor, Suite B, Marlborough, MA 01752 USA
Tel: 800.667.8893 (USA only) | Fax: 781.935.3068
CLIA#: 22D0884531
### Patient Information
| Field | Value |
|-------|-------|
| Patient | Lu, Yanxin |
| Gender | M |
| Age | 35Y |
| Date of Birth | 10/17/1989 |
| Specimen | 00598276 |
| Reported | 08/26/2025 |
| Received | 08/20/2025, Time: 09:50 |
| Collected | 08/18/2025, Time: 15:15 |
### Clinician
| Field | Value |
|-------|-------|
| Clinician | Philip Werthman MD |
| Phone | 1-310-277-2873 |
| Fax | 1-310-286-2139 |
| Address | Center For Male Reproductive Medicine, 2080 Century Park East, Suite 907, Los Angeles, CA 90067 |
### Overview
| Test | Value | Range: Normal | Range: Borderline | Range: Abnormal | Result |
|------|-------|--------------|-------------------|----------------|--------|
| DFI (DNA Fragmentation Index) | **3** | 0–20 | 20–30 | >30 (60+ severe) | **Normal** — DNA integrity |
| OSA (Oxidative Stress Adduct) | **1.4** | 0–3.8 | 3.8–4.4 | >4.4 (9+ severe) | **Normal** — Damage from free radicals/reactive oxygen species (ROS) |
| HDS (High DNA Stainability) | **6** | 0–15 | — | >15 (30+ severe) | **Normal** — Levels of decondensed DNA (eg immature sperm) |
### Patient Results & Interpretation
| Test Name | Normal Range | Unit | Result | Interpretation |
|-----------|-------------|------|--------|---------------|
| DFI — DNA Fragmentation Index | <20 | % | **3** | **Normal**. Predicted success: Natural=normal, IUI=normal, IVF=normal, ICSI=normal. Higher DFI scores correlate to lower success rates in natural or IUI attempts at pregnancy. Abnormal DFI results suggest the consideration of advancing directly to IVF or ICSI, treatments that lower the DFI score, and/or consultation with a urologist specializing in fertility. |
| Oxidative Stress Adduct | <3.8 | uM | **1.4** | **Normal**. The OSA test directly measures sperm damage from oxidative stress by quantifying the presence of "adducts," molecules in semen covalently modified by free radicals/reactive oxygen species. Men from 955 infertile couples demonstrated significantly higher results compared with 20 fertile controls (Fig 1, p<0.05). Low results have unclear clinical significance at this time. |
| HDS — High DNA Stainability | <15 | % | **6** | **Normal**. The HDS Score provides supplementary information regarding the percent of cells with highly-staining DNA, and can be abnormal when high levels of immature sperm cells are present. |
### References
1. Tirado E, Marquette M, Musto JD, Leader B. The association of aging, oxidative stress and DNA integrity in human spermatozoa. *American Society of Andrology 2010*.
2. Evenson DP, Darzynkiewicz Z, Melamed MR. Relation of mammalian sperm chromatin heterogeneity to fertility. *Science*. 1980;210(4474):1131-1133.
3. Bungum M, Humaidan P, Axmon A, et al. Sperm DNA integrity assessment in prediction of assisted reproduction technology outcome. *Hum Reprod*. 2007;22(1):174-179.
4. Evenson DP, Jost LK, Marshall D, et al. Utility of the sperm chromatin structure assay as a diagnostic and prognostic tool in the human fertility clinic. *Hum Reprod*. 1999;14(4):1039-1049.
5. Spanò M, Bonde JP, Hjøllund HI, Kolstad HA, Cordelli E, Leter G. Sperm chromatin damage impairs human fertility. The Danish First Pregnancy Planner Study Team. *Fertil Steril*. 2000;73(1):43-50.
6. Erenpreiss J, Bungum M, Spano M, Elzanaty S, Orbidans S, Giwercman A. Intra-individual variation in sperm chromatin structure assay parameters in men from infertile couples: clinical implications. *Hum Reprod*. 2006;21(8):2061-2064.
**Laboratory Director (CLIA)**: Vivekananda Datta, M.D., Ph.D.
---
## Page 2: Werthman Semen Analysis Worksheet
**Center for Male Reproductive Medicine**
Lab Director: Philip Werthman, M.D., P.C.
2080 Century Park East, Suite 907, Los Angeles, CA 90067
(310) 277-2873 | Fax (310) 286-2139
### Specimen Information
| Field | Value |
|-------|-------|
| Patient Name | Yanxin Lu |
| DOB | SA 08/18/25 (handwritten) |
| Date of Specimen | 8/18/25 |
| Time Collected | 3:12 |
| Age of Specimen | 50 min |
| Days Since Last Ejaculation | 2 |
| Any Portion Lost? | No |
### Specimen Purpose
- [x] Complete Semen Analysis
- [ ] Count only
- [ ] Insemination prep
- [x] DFI/OSA
- [ ] Culture and sensitivity
- [ ] Freeze
### Patient Results
| Parameter | Value | Normal Range (WHO, 2006) | Normal Range (WHO, 2010) |
|-----------|-------|------------------------|------------------------|
| Volume (cc) | 5.L (~5) | 2.0–5.0 cc | 1.5–6 cc |
| Count (mil/cc) | h (~high/normal) | >20 mil/cc | >15 mil/cc |
| Motility (%) | 56% | >50% | >32% |
| Grade | 2+/3 | 3–4 | 3–4 |
| pH | 8.0 | 7.2–8.0 | ≥7.2 |
| Round Cells (lpf) | 0–1 | <10/lpf | <1 |
| Viscosity | N (Normal) | Normal | Normal |
| Agglutination | d (none) | None | None |
| Normal Morphology (%) | 3 | >30% | >4% (strict criteria) |
| Head Defects (%) | — | — | — |
| Midpiece (%) | — | — | — |
| Tail (%) | — | — | — |
| Total Abnormal (%) | — | — | — |
### Comments
**Progyny** (handwritten comment)

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---
type: identification
category: drivers-license
person: Lu, Yanxin
date: 2023-08-08
source: lu_ca_dl_2023.pdf
---
# California Driver License - Yanxin Lu
## Front
| Field | Value |
|-------|-------|
| State | California, USA |
| Document | DRIVER LICENSE |
| DL# | Y5369348 |
| Class | C |
| Type | LIMITED-TERM |
| EXP | 10/17/2028 |
| END | NONE |
| LN | LU |
| FN | YANXIN |
| Address | LOS ANGELES, CA 90066 |
| DOB | 10/17/1989 |
| RSTR | CORR LENS |
| SEX | M |
| HGT | 5-09" |
| HAIR | BRN |
| WGT | 125 lb |
| EYES | BLK |
| DD | 07/29/2021616R8/DDFD/28 |
| ISS | 08/08/2023 |
## Back
| Field | Value |
|-------|-------|
| CLASS | C - Veh w/GVWR ≤26000, No WC |
| ENDORSEMENTS | None |
| RESTRICTIONS | 01-Must wear corrective lenses when driving |
This license is issued as a license to drive a motor vehicle; it does not establish eligibility for employment, voter registration, or public benefits.
Rev 08/28/2017

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---
type: genetic-screening
category: carrier-screen
person: Lu, Yanxin
date: 2025-03-25
provider: Erica T Wang, MD
source: lu_horizon.pdf
---
# Horizon Carrier Screening Report (Custom Panel) - Yanxin Lu
## Patient Information
| Field | Value |
|-------|-------|
| Patient Name | Yanxin Lu |
| Date of Birth | 10/17/1989 |
| Gender | Male |
| Ethnicity | Other |
| Patient ID | N/A |
| Medical Record # | 202192870 |
| Collection Kit | 43218439-2-C |
| Accession ID | N/A |
| Case File ID | 16027435 |
## Test Information
| Field | Value |
|-------|-------|
| Ordering Physician | Erica T Wang, MD |
| Clinic Information | Cedars Sinai-Fertility & Reproductive Medicine Center |
| Phone | 310-423-9964 |
| Report Date | 03/25/2025 |
| Sample Collected | 03/10/2025 |
| Sample Received | 03/11/2025 |
| Sample Type | Blood |
**ORDER SELECTED:** The Horizon Custom panel was ordered for this patient. Males are not screened for X-linked diseases.
---
## Final Results Summary
### SILENT CARRIER for Alpha-Thalassemia (aa/a-)
Positive for the pathogenic alpha 3.7 deletion of the HBA2 gene. Depending on the carrier status of the individual's partner, this couple may be at increased risk to have a child with Hemoglobin H Disease. Carrier screening for this individual's partner is suggested.
### Pseudodeficiency VARIANT DETECTED for Glycogen Storage Disease, Type 2 (Pompe Disease)
The pseudodeficiency variant c.1726G>A (p.G576S) was detected in the GAA gene. This pseudodeficiency allele is known to cause false positive results in enzyme-based Glycogen Storage Disease, Type 2 (Pompe Disease) screening in newborns. This benign variant does not increase the risk for Glycogen Storage Disease, Type 2 (Pompe Disease) in this individual's children.
### CARRIER for Phenylketonuria
Positive for the pathogenic variant c.838G>A (p.E280K) in the PAH gene. If this individual's partner is a carrier for PHENYLKETONURIA, their chance to have a child with this condition is 1 in 4 (25%). Carrier screening for this individual's partner is suggested.
### Negative for 558 out of 560 diseases
No other pathogenic variants were detected in the genes that were screened. The patient's remaining carrier risk after the negative screening results is listed for each disease/gene on the Horizon website at https://www.natera.com/panel-option/h-all/.
Carrier screening is not diagnostic and may not detect all possible pathogenic variants in a given gene.
### Recommendations
Individuals who would like to review their Horizon report with a Natera Laboratory Genetic Counselor may schedule a telephone genetic information session by calling 650-249-9090 or visiting naterasession.com. Clinicians with questions may contact Natera at 650-249-9090 or email support@natera.com. Individuals with positive results may wish to discuss these results with family members to allow them the option to be screened. Comprehensive genetic counseling to discuss the implications of these test results and possible associated reproductive risk is recommended.
---
## Alpha-Thalassemia Silent Carrier
### Understanding Your Horizon Carrier Screen Results
#### What is Alpha-Thalassemia?
Alpha-Thalassemia refers to a group of inherited blood disorders that reduce the amount of hemoglobin, the protein in red blood cells that carries oxygen to cells throughout the body. A person with one of the Alpha-Thalassemia diseases has lifelong anemia. Mild anemia can lead to tiredness, irritability, dizziness, lightheadedness and a rapid heartbeat. Severe anemia can be life threatening and may require blood transfusions. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual. More information can be found at: https://parentsguidecordblood.org/en. Clinical trials involving potential new treatments for these conditions may be available (see www.clinicaltrials.gov).
#### What causes Alpha-Thalassemia?
Hemoglobin is made of both alpha globin and beta globin proteins. There are four HBA genes (also called alpha globin genes) that are responsible for making alpha globin. Alpha-Thalassemia occurs when three or more of these four alpha globin genes is missing or changed. The exact type of Alpha-Thalassemia a person has depends on how many of the alpha globin genes are not working. Hemoglobin H Disease (a-/--): three missing or changed alpha globin genes. A person who has three missing or changed alpha globin genes has Hemoglobin H Disease. Hemoglobin H Disease can be mild or severe. People with severe disease may have chronic anemia, liver disease, and bone changes. Some people with Hemoglobin H Disease require frequent blood transfusions and other treatments. Alpha-Thalassemia Major, also known as Hemoglobin Bart's Disease (--/--): four missing or changed alpha globin genes. This results in severe fatal anemia. Affected babies develop symptoms before birth and without treatment typically do not survive the newborn period. Fetal blood transfusions during pregnancy may allow survival until after birth, at which time either lifelong transfusions or a stem cell transplantation will be necessary. Mothers who are pregnant with a fetus with Alpha-Thalassemia major can develop health problems during pregnancy. Alpha-Thalassemia is inherited in an autosomal recessive manner. Children typically inherit four copies of each alpha globin gene, two copies from the mother and two copies from the father. This means that both parents must be carriers of one or more missing or changed alpha globin genes to have a child who is affected with Hemoglobin H Disease or Alpha-Thalassemia Major.
#### What do my carrier results mean?
One missing or changed alpha globin gene was identified with your Horizon test. People with one missing or changed alpha globin gene are Alpha-Thalassemia silent carriers. People who are silent carriers for Alpha-Thalassemia usually have no health problems and have normal hemoglobin levels. Thalassemia can occur in people of any ethnicity. It is more common in people with Chinese, Southeast Asian, Indian, Middle Eastern, African, and Mediterranean ancestry.
If your partner is a carrier for Alpha-Thalassemia with two genes missing or changed on the same chromosome (in 'cis'), you would have a 1 in 4, or 25%, chance in each pregnancy of having a child with Hemoglobin H Disease. You are not at risk for having a baby with Alpha-Thalassemia Major. The majority of people of Asian ancestry who have two missing alpha globin genes have them on the same chromosome (in 'cis').
If your partner is a carrier for Alpha-Thalassemia with two genes missing or changed that are located on opposite chromosomes (in "trans"), each of your children would have a 50% chance of being carriers of Alpha-Thalassemia (with two genes missing or changed on opposite chromosomes), but you are not at risk to have a child with either Hemoglobin H Disease or Alpha-Thalassemia Major. The majority of people of African-American ancestry who have two missing alpha-globin genes have them on opposite chromosomes.
If your partner is an Alpha-Thalassemia Silent Carrier (with one gene missing or changed), each of your children would have a 25% chance of being carriers of Alpha-Thalassemia (with two genes missing or changed on opposite chromosomes) and a 50% chance of being Alpha-Thalassemia Silent carriers. You would not be at risk to have a child with either Hemoglobin H Disease or Alpha-Thalassemia Major.
#### What can I do next?
You may wish to speak with a local genetic counselor about your carrier test results. A genetic counselor in your area can be located on the National Society of Genetic Counselors website (www.nsgc.org). Your siblings and other relatives are at increased risk to also have this mutation. You are encouraged to inform your family members of your test results as they may wish to consider being tested themselves. If you are pregnant, your partner can have carrier screening for Alpha-Thalassemia ordered by a health care professional. If your partner is not found to be a carrier for Alpha-Thalassemia, your risk of having a child with Hemoglobin H Disease is greatly reduced. Couples at risk of having a baby with Hemoglobin H Disease can opt to have prenatal diagnosis done through chorionic villus sampling (CVS) or amniocentesis during pregnancy or can choose to have the baby tested after birth. If you are not yet pregnant, your partner can have carrier screening for Alpha-Thalassemia ordered by a health care professional. If your partner is found to be a carrier for Alpha-Thalassemia (with two missing or non-working alpha globin genes on the same chromosome, in 'cis') you have several reproductive options to consider:
- Natural pregnancy with or without prenatal diagnostic testing of the fetus or testing the baby after birth for Hemoglobin H Disease
- Preimplantation genetic diagnosis (PGD) with in vitro fertilization (IVF) to test embryos for Hemoglobin H Disease
- Adoption or use of a sperm or egg donor who is not a carrier for Alpha-Thalassemia
#### What resources are available?
- March of Dimes: http://www.marchofdimes.org/baby/thalassemia.aspx
- Cooley's Anemia Foundation: www.thalassemia.org
- Prenatal diagnosis done by CVS: http://www.marchofdimes.org/chorionic-villus-sampling.
---
## Phenylketonuria
### Understanding Your Horizon Carrier Screen Results
#### What is Phenylketonuria?
Phenylketonuria (PKU) is an inherited disorder in which the body is unable to break down an amino acid (building block of protein) called phenylalanine. Phenylalanine is found in most foods that contain protein including meat, fish, dairy, eggs, beans, and nuts. When toxic levels of phenylalanine buildup in the body it causes problems for the brain, nervous system, and other parts of the body. If the condition is not treated, children with PKU develop intellectual disability, developmental delay, seizures, skin problems, and psychiatric problems. Lifelong treatment with a diet low in phenylalanine and special supplements is typically needed to treat PKU. With treatment people with PKU can lead healthy lives. Clinical trials involving potential new treatments for this condition may be available (see www.clinicaltrials.gov). Other forms of Phenylketonuria called variant PKU and non-PKU hyperphenylalaninemia can be less severe and have a lower risk for brain and health problems. Some people with very mild cases may not need treatment with a low phenylalanine diet.
#### What causes Phenylketonuria?
PKU is caused by a gene change, or mutation, in both copies of the PAH gene pair. These mutations cause the genes to not work properly or not work at all. Normal function of the PAH genes is important for breaking down phenylalanine from foods in the diet. When both copies of the PAH gene do not work correctly, it leads to the symptoms described above. PKU is inherited in an autosomal recessive manner. This means that, in most cases, both parents must be carriers of a mutation in one copy of the PAH gene to have a child with PKU. People who are carriers for PKU are usually healthy and do not have symptoms nor do they have PKU themselves. Usually a child inherits two copies of each gene, one copy from the mother and one copy from the father. If the mother and father are both carriers for PKU, there is a 1 in 4, or 25%, chance in each pregnancy for both partners to pass on their PAH gene mutations to the child, who will then have this condition. Individuals found to carry more than one mutation for Phenylketonuria should discuss their risk for having an affected child, and any potential effects to their own health, with their health care provider.
#### What can I do next?
You may wish to speak with a local genetic counselor about your carrier test results. A genetic counselor in your area can be located on the National Society of Genetic Counselors website (www.nsgc.org). Your siblings and other relatives are at increased risk to also have this mutation. You are encouraged to inform your family members of your test results as they may wish to consider being tested themselves. If you are pregnant, your partner can have carrier screening for PKU ordered by a health care professional. If your partner is not found to be a carrier for PKU your risk of having an affected child is greatly reduced. Couples at risk of having a baby with PKU can opt to have prenatal diagnosis done through chorionic villus sampling (CVS) or amniocentesis during pregnancy or can choose to have the baby tested after birth for this condition. Although PKU is screened for as part of the newborn screening program in all U.S. states, babies at 25% risk for this condition may need diagnostic testing in addition to newborn screening. If you are not yet pregnant, your partner can have carrier screening for PKU ordered by a health care professional. If your partner is found to be a carrier for PKU you have several reproductive options to consider:
- Natural pregnancy with or without prenatal diagnosis of the fetus or testing the baby after birth for Phenylketonuria
- Preimplantation genetic diagnosis (PGD) with in vitro fertilization (IVF) to test embryos for Phenylketonuria
- Adoption or use of a sperm or egg donor who is not a carrier for Phenylketonuria
#### What resources are available?
- Baby's First Test: https://www.babysfirsttest.org/newborn-screening/conditions/classic-phenylketonuria-pku
- Genetics Home Reference: https://ghr.nlm.nih.gov/condition/phenylketonuria
- Prenatal diagnosis done through CVS: http://www.marchofdimes.org/chorionic-villus-sampling.aspx
- Prenatal diagnosis done through Amniocentesis: http://www.marchofdimes.org/amniocentesis.aspx
- PGD with IVF: http://www.natera.com/spectrum
---
## Variant Details
### HBA1/HBA2, alpha 3.7 deletion, pathogenic
- The alpha 3.7 or 4.2 deletion of the HBA1/HBA2 gene is a recombination deletion between the HBA1 and HBA2 gene, resulting in loss of one copy of the HBA1/HBA2 genes.
- Single allele deletion involving one of the four copies of the HBA1/HBA2 genes (alpha 3.7 deletion or alpha 4.2 deletion) has been reported in conjunction with deletions encompassing both HBA1 and HBA2 genes in individuals with HbH disease (PMID: 20301608, 7734346, 27492767, 29032940). Two single allele deletions in trans (alpha 3.7 deletion homozygous, alpha 4.2 deletion in trans, or alpha 3.7 deletion in trans with alpha 4.2 deletion) have been reported in individuals with alpha-thalassemia trait (PMID: 20301608, 29032940).
- This variant has been described in ClinVar [ID: 433555, 648517].
### PAH, c.838G>A (p.E280K), pathogenic
- The c.838G>A (p.E280K) variant in the PAH gene has been observed at a frequency of 0.0057% in the gnomAD v2.1.1 dataset.
- This variant has been reported in a homozygous state or in conjunction with another variant in individual(s) with phenylalanine hydroxylase deficiency (PMID: 2564729, 23942198).
- Functional studies demonstrated that this variant causes reduced enzyme activity (PMID: 2564729).
- This variant has been reported in ClinVar [ID: 580].
---
## Diseases Screened
Below is a list of all diseases screened and the result. Certain conditions have unique patient-specific numerical values, therefore, results for those conditions are formatted differently.
### Autosomal Recessive
All diseases listed below are **negative** unless otherwise noted.
#### 1
- 17-BETA HYDROXYSTEROID DEHYDROGENASE 3 DEFICIENCY (HSD17B3)
#### 3
- 3-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE II DEFICIENCY (HSD3B2)
- 3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY (HMGCL)
- 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY (HADH)
- 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (MCCC1)
- 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (MCCC2)
- 3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY (PHGDH)
#### 5
- 5-ALPHA-REDUCTASE DEFICIENCY (SRD5A2)
#### 6
- 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE ( PTPS ) DEFICIENCY (PTS)
#### A
- ABCA4-RELATED CONDITIONS (ABCA4)
- ABETALIPOPROTEINEMIA (MTTP)
- ACHONDROGENESIS, TYPE 1B (SLC26A2)
- ACHROMATOPSIA, CNGB3-RELATED (CNGB3)
- ACRODERMATITIS ENTEROPATHICA (SLC39A4)
- ACTION MYOCLONUS-RENAL FAILURE (AMRF) SYNDROME (SCARB2)
- ACUTE INFANTILE LIVER FAILURE, TRMU-RELATED (TRMU)
- ACYL-COA OXIDASE I DEFICIENCY (ACOX1)
- AICARDI-GOUTIERES SYNDROME (SAMHD1)
- AICARDI-GOUTIERES SYNDROME, RNASEH2A-RELATED (RNASEH2A)
- AICARDI-GOUTIERES SYNDROME, RNASEH2B-RELATED (RNASEH2B)
- AICARDI-GOUTIERES SYNDROME, RNASEH2C-RELATED (RNASEH2C)
- AICARDI-GOUTIERES SYNDROME, TREX1-RELATED (TREX1)
- ALKAPTONURIA (HGD)
- ALPHA-1 ANTITRYPSIN DEFICIENCY (SERPINA1)
- ALPHA-MANNOSIDOSIS (MAN2B1)
- ALPHA-THALASSEMIA (HBA1/HBA2) **see first page**
- ALPORT SYNDROME, COL4A3-RELATED (COL4A3)
- ALPORT SYNDROME, COL4A4-RELATED (COL4A4)
- ALSTROM SYNDROME (ALMS1)
- AMISH INFANTILE EPILEPSY SYNDROME (ST3GAL5)
- ANDERMANN SYNDROME (SLC12A6)
- ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY (AGAT DEFICIENCY) (GATM)
- ARGININEMIA (ARG1)
- ARGININOSUCCINATE LYASE DEFICIENCY (ASL)
- AROMATASE DEFICIENCY (CYP19A1)
- ASPARAGINE SYNTHETASE DEFICIENCY (ASNS)
- ASPARTYLGLYCOSAMINURIA (AGA)
- ATAXIA WITH VITAMIN E DEFICIENCY (TTPA)
- ATAXIA-TELANGIECTASIA (ATM)
- ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 (MRE11)
- ATRANSFERRINEMIA (TF)
- AUTISM SPECTRUM, EPILEPSY AND ARTHROGRYPOSIS (SLC35A3)
- AUTOIMMUNE POLYGLANDULAR SYNDROME, TYPE 1 (AIRE)
- AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS (ARCI), SLC27A4-RELATED (SLC27A4)
- AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY (SACS)
#### B
- BARDET-BIEDL SYNDROME, ARL6-RELATED (ARL6)
- BARDET-BIEDL SYNDROME, BBS10-RELATED (BBS10)
- BARDET-BIEDL SYNDROME, BBS12-RELATED (BBS12)
- BARDET-BIEDL SYNDROME, BBS1-RELATED (BBS1)
- BARDET-BIEDL SYNDROME, BBS2-RELATED (BBS2)
- BARDET-BIEDL SYNDROME, BBS4-RELATED (BBS4)
- BARDET-BIEDL SYNDROME, BBS5-RELATED (BBS5)
- BARDET-BIEDL SYNDROME, BBS7-RELATED (BBS7)
- BARDET-BIEDL SYNDROME, BBS9-RELATED (BBS9)
- BARDET-BIEDL SYNDROME, TTC8-RELATED (TTC8)
- BARE LYMPHOCYTE SYNDROME, CIITA-RELATED (CIITA)
- BARTTER SYNDROME, BSND-RELATED (BSND)
- BARTTER SYNDROME, KCNJ1-RELATED (KCNJ1)
- BARTTER SYNDROME, SLC12A1-RELATED (SLC12A1)
- BATTEN DISEASE, CLN3-RELATED (CLN3)
- BERNARD-SOULIER SYNDROME, TYPE A1 (GP1BA)
- BERNARD-SOULIER SYNDROME, TYPE C (GP9)
- BETA-HEMOGLOBINOPATHIES (HBB)
- BETA-KETOTHIOLASE DEFICIENCY (ACAT1)
- BETA-MANNOSIDOSIS (MANBA)
- BETA-UREIDOPROPIONASE DEFICIENCY (UPB1)
- BILATERAL FRONTOPARIETAL POLYMICROGYRIA (GPR56)
- BIOTINIDASE DEFICIENCY (BTD)
- BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE (BTBGD) (SLC19A3)
- BLOOM SYNDROME (BLM)
- BRITTLE CORNEA SYNDROME 1 (ZNF469)
- BRITTLE CORNEA SYNDROME 2 (PRDM5)
#### C
- CANAVAN DISEASE (ASPA)
- CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY (CPS1)
- CARNITINE DEFICIENCY (SLC22A5)
- CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY (CPT1A)
- CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY (CPT2)
- CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (SLC25A20)
- CARPENTER SYNDROME (RAB23)
- CARTILAGE-HAIR HYPOPLASIA (RMRP)
- CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA (CASQ2)
- CD59-MEDIATED HEMOLYTIC ANEMIA (CD59)
- CEP152-RELATED MICROCEPHALY (CEP152)
- CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA (CEDNIK) SYNDROME (SNAP29)
- CEREBROTENDINOUS XANTHOMATOSIS (CYP27A1)
- CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C (PLEKHG5)
- CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D (NDRG1)
- CHEDIAK-HIGASHI SYNDROME (LYST)
- CHOREOACANTHOCYTOSIS (VPS13A)
- CHRONIC GRANULOMATOUS DISEASE, CYBA-RELATED (CYBA)
- CHRONIC GRANULOMATOUS DISEASE, NCF2-RELATED (NCF2)
- CILIOPATHIES, RPGRIP1L-RELATED (RPGRIP1L)
- CITRIN DEFICIENCY (SLC25A13)
- CITRULLINEMIA, TYPE 1 (ASS1)
- CLN10 DISEASE (CTSD)
- COHEN SYNDROME (VPS13B)
- COL11A2-RELATED CONDITIONS (COL11A2)
- COMBINED MALONIC AND METHYLMALONIC ACIDURIA (ACSF3)
- COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (GFM1)
- COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (TSFM)
- COMBINED PITUITARY HORMONE DEFICIENCY 1 (POU1F1)
- COMBINED PITUITARY HORMONE DEFICIENCY-2 (PROP1)
- CONGENITAL ADRENAL HYPERPLASIA, 11-BETA-HYDROXYLASE DEFICIENCY (CYP11B1)
- CONGENITAL ADRENAL HYPERPLASIA, 17-ALPHA-HYDROXYLASE DEFICIENCY (CYP17A1)
- CONGENITAL ADRENAL HYPERPLASIA, 21-HYDROXYLASE DEFICIENCY (CYP21A2)
- CONGENITAL ADRENAL INSUFFICIENCY, CYP11A1-RELATED (CYP11A1)
- CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA (MPL)
- CONGENITAL CHRONIC DIARRHEA (DGAT1)
- CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1, ALG1-RELATED (ALG1)
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1A, PMM2-Related (PMM2)
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1B (MPI)
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1C (ALG6)
- CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE 2 (SEC23B)
- CONGENITAL FINNISH NEPHROSIS (NPHS1)
- CONGENITAL HYDROCEPHALUS 1 (CCDC88C)
- CONGENITAL HYPERINSULINISM, KCNJ11-Related (KCNJ11)
- CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS ( CIPA ) (NTRK1)
- CONGENITAL MYASTHENIC SYNDROME, CHAT-RELATED (CHAT)
- CONGENITAL MYASTHENIC SYNDROME, CHRNE-RELATED (CHRNE)
- CONGENITAL MYASTHENIC SYNDROME, COLQ-RELATED (COLQ)
- CONGENITAL MYASTHENIC SYNDROME, DOK7-RELATED (DOK7)
- CONGENITAL MYASTHENIC SYNDROME, RAPSN-RELATED (RAPSN)
- CONGENITAL NEPHROTIC SYNDROME, PLCE1-RELATED (PLCE1)
- CONGENITAL NEUTROPENIA, G6PC3-RELATED (G6PC3)
- CONGENITAL NEUTROPENIA, HAX1-RELATED (HAX1)
- CONGENITAL NEUTROPENIA, VPS45-RELATED (VPS45)
- CONGENITAL SECRETORY CHLORIDE DIARRHEA 1 (SLC26A3)
- CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS (SLC4A11)
- CORTICOSTERONE METHYLOXIDASE DEFICIENCY (CYP11B2)
- COSTEFF SYNDROME ( 3-METHYLGLUTACONIC ACIDURIA, TYPE 3 ) (OPA3)
- CRB1-RELATED RETINAL DYSTROPHIES (CRB1)
- CYSTIC FIBROSIS (CFTR)
- CYSTINOSIS (CTNS)
- CYTOCHROME C OXIDASE DEFICIENCY, PET100-RELATED (PET100)
- CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY (POR)
#### D
- D-BIFUNCTIONAL PROTEIN DEFICIENCY (HSD17B4)
- DEAFNESS, AUTOSOMAL RECESSIVE 77 (LOXHD1)
- DIHYDROPTERIDINE REDUCTASE (DHPR) DEFICIENCY (QDPR)
- DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (DPYD)
- DONNAI-BARROW SYNDROME (LRP2)
- DUBIN-JOHNSON SYNDROME (ABCC2)
- DYSKERATOSIS CONGENITA SPECTRUM DISORDERS (TERT)
- DYSKERATOSIS CONGENITA, RTEL1-RELATED (RTEL1)
- DYSTROPHIC EPIDERMOLYSIS BULLOSA, COL7A1-Related (COL7A1)
#### E
- EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY, CAD-RELATED (CAD)
- EHLERS-DANLOS SYNDROME TYPE VI (PLOD1)
- EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, TNXB-RELATED (TNXB)
- EHLERS-DANLOS SYNDROME, TYPE VII C (ADAMTS2)
- ELLIS-VAN CREVELD SYNDROME, EVC2-RELATED (EVC2)
- ELLIS-VAN CREVELD SYNDROME, EVC-RELATED (EVC)
- ENHANCED S-CONE SYNDROME (NR2E3)
- EPIMERASE DEFICIENCY (GALACTOSEMIA TYPE III) (GALE)
- EPIPHYSEAL DYSPLASIA, MULTIPLE, 7/DESBUQUOIS DYSPLASIA 1 (CANT1)
- ERCC6-RELATED DISORDERS (ERCC6)
- ERCC8-RELATED DISORDERS (ERCC8)
- ETHYLMALONIC ENCEPHALOPATHY (ETHE1)
#### F
- F2-RELATED CONDITIONS (F2)
- F5-RELATED CONDITIONS (F5)
- FACTOR XI DEFICIENCY (F11)
- FAMILIAL DYSAUTONOMIA (IKBKAP)
- FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, PERFORIN-RELATED (PRF1)
- FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, STX11-RELATED (STX11)
- FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, STXBP2-RELATED (STXBP2)
- FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, UNC13D-RELATED (UNC13D)
- FAMILIAL HYPERCHOLESTEROLEMIA, LDLRAP1-RELATED (LDLRAP1)
- FAMILIAL HYPERCHOLESTEROLEMIA, LDLR-RELATED (LDLR)
- FAMILIAL HYPERINSULINISM, ABCC8-RELATED (ABCC8)
- FAMILIAL MEDITERRANEAN FEVER (MEFV)
- FAMILIAL NEPHROGENIC DIABETES INSIPIDUS, AQP2-RELATED (AQP2)
- FANCONI ANEMIA, GROUP A (FANCA)
- FANCONI ANEMIA, GROUP C (FANCC)
- FANCONI ANEMIA, GROUP D2 (FANCD2)
- FANCONI ANEMIA, GROUP E (FANCE)
- FANCONI ANEMIA, GROUP F (FANCF)
- FANCONI ANEMIA, GROUP G (FANCG)
- FANCONI ANEMIA, GROUP I (FANCI)
- FANCONI ANEMIA, GROUP J (BRIP1)
- FANCONI ANEMIA, GROUP L (FANCL)
- FARBER LIPOGRANULOMATOSIS (ASAH1)
- FOVEAL HYPOPLASIA (SLC38A8)
- FRASER SYNDROME 1, GRIP1-RELATED (GRIP1)
- FRASER SYNDROME, FRAS1-RELATED (FRAS1)
- FRASER SYNDROME, FREM2-RELATED (FREM2)
- FRIEDREICH ATAXIA (FXN)
- FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY (FBP1)
- FUCOSIDOSIS, FUCA1-RELATED (FUCA1)
- FUMARASE DEFICIENCY (FH)
#### G
- GABA-TRANSAMINASE DEFICIENCY (ABAT)
- GALACTOKINASE DEFICIENCY ( GALACTOSEMIA, TYPE II ) (GALK1)
- GALACTOSEMIA (GALT)
- GALACTOSIALIDOSIS (CTSA)
- GAUCHER DISEASE (GBA)
- GCH1-RELATED CONDITIONS (GCH1)
- GDF5-RELATED CONDITIONS (GDF5)
- GERODERMA OSTEODYSPLASTICA (GORAB)
- GITELMAN SYNDROME (SLC12A3)
- GLANZMANN THROMBASTHENIA (ITGB3)
- GLUTARIC ACIDEMIA, TYPE 1 (GCDH)
- GLUTARIC ACIDEMIA, TYPE 2A (ETFA)
- GLUTARIC ACIDEMIA, TYPE 2B (ETFB)
- GLUTARIC ACIDEMIA, TYPE 2C (ETFDH)
- GLUTATHIONE SYNTHETASE DEFICIENCY (GSS)
- GLYCINE ENCEPHALOPATHY, AMT-RELATED (AMT)
- GLYCINE ENCEPHALOPATHY, GLDC-RELATED (GLDC)
- GLYCOGEN STORAGE DISEASE TYPE 5 ( McArdle Disease ) (PYGM)
- GLYCOGEN STORAGE DISEASE TYPE IXB (PHKB)
- GLYCOGEN STORAGE DISEASE TYPE IXC (PHKG2)
- GLYCOGEN STORAGE DISEASE, TYPE 1a (G6PC)
- GLYCOGEN STORAGE DISEASE, TYPE 1b (SLC37A4)
- GLYCOGEN STORAGE DISEASE, TYPE 2 (POMPE DISEASE) (GAA) **see first page**
- GLYCOGEN STORAGE DISEASE, TYPE 3 (AGL)
- GLYCOGEN STORAGE DISEASE, TYPE 4 (GBE1)
- GLYCOGEN STORAGE DISEASE, TYPE 7 (PFKM)
- GRACILE SYNDROME (BCS1L)
- GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY (GAMT)
#### H
- HARLEQUIN ICHTHYOSIS (ABCA12)
- HEME OXYGENASE 1 DEFICIENCY (HMOX1)
- HEMOCHROMATOSIS TYPE 2A (HFE2)
- HEMOCHROMATOSIS, TYPE 3, TFR2-Related (TFR2)
- HEPATOCEREBRAL MITOCHONDRIAL DNA DEPLETION SYNDROME, MPV17-RELATED (MPV17)
- HEREDITARY FRUCTOSE INTOLERANCE (ALDOB)
- HEREDITARY HEMOCHROMATOSIS TYPE 1 (HFE)
- HEREDITARY HEMOCHROMATOSIS TYPE 2B (HAMP)
- HEREDITARY SPASTIC PARAPARESIS, TYPE 49 (TECPR2)
- HEREDITARY SPASTIC PARAPLEGIA, CYP7B1-RELATED (CYP7B1)
- HERMANSKY-PUDLAK SYNDROME, AP3B1-RELATED (AP3B1)
- HERMANSKY-PUDLAK SYNDROME, BLOC1S3-RELATED (BLOC1S3)
- HERMANSKY-PUDLAK SYNDROME, BLOC1S6-RELATED (BLOC1S6)
- HERMANSKY-PUDLAK SYNDROME, HPS1-RELATED (HPS1)
- HERMANSKY-PUDLAK SYNDROME, HPS3-RELATED (HPS3)
- HERMANSKY-PUDLAK SYNDROME, HPS4-RELATED (HPS4)
- HERMANSKY-PUDLAK SYNDROME, HPS5-RELATED (HPS5)
- HERMANSKY-PUDLAK SYNDROME, HPS6-RELATED (HPS6)
- HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (HLCS)
- HOMOCYSTINURIA AND MEGALOBLASTIC ANEMIA TYPE CBLG (MTR)
- HOMOCYSTINURIA DUE TO DEFICIENCY OF MTHFR (MTHFR)
- HOMOCYSTINURIA, CBS-RELATED (CBS)
- HOMOCYSTINURIA, Type cbIE (MTRR)
- HYDROLETHALUS SYNDROME (HYLS1)
- HYPER-IGM IMMUNODEFICIENCY (CD40)
- HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA ( HHH SYNDROME ) (SLC25A15)
- HYPERPHOSPHATEMIC FAMILIAL TUMORAL CALCINOSIS, GALNT3-RELATED (GALNT3)
- HYPOMYELINATING LEUKODYSTROPHY 12 (VPS11)
- HYPOPHOSPHATASIA, ALPL-RELATED (ALPL)
#### I
- IMERSLUND-GRASBECK SYNDROME 2 (AMN)
- IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES (ICF) SYNDROME, DNMT3B-RELATED (DNMT3B)
- IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES (ICF) SYNDROME, ZBTB24-RELATED (ZBTB24)
- INCLUSION BODY MYOPATHY 2 (GNE)
- INFANTILE CEREBRAL AND CEREBELLAR ATROPHY (MED17)
- INFANTILE NEPHRONOPHTHISIS (INVS)
- INFANTILE NEUROAXONAL DYSTROPHY (PLA2G6)
- ISOLATED ECTOPIA LENTIS (ADAMTSL4)
- ISOLATED SULFITE OXIDASE DEFICIENCY (SUOX)
- ISOLATED THYROID-STIMULATING HORMONE DEFICIENCY (TSHB)
- ISOVALERIC ACIDEMIA (IVD)
#### J
- JOHANSON-BLIZZARD SYNDROME (UBR1)
- JOUBERT SYNDROME 2 / MECKEL SYNDROME 2 (TMEM216)
- JOUBERT SYNDROME AND RELATED DISORDERS (JSRD), TMEM67-RELATED (TMEM67)
- JOUBERT SYNDROME, AHI1-RELATED (AHI1)
- JOUBERT SYNDROME, ARL13B-RELATED (ARL13B)
- JOUBERT SYNDROME, B9D1-RELATED (B9D1)
- JOUBERT SYNDROME, B9D2-RELATED (B9D2)
- JOUBERT SYNDROME, C2CD3-RELATED/OROFACIODIGITAL SYNDROME 14 (C2CD3)
- JOUBERT SYNDROME, CC2D2A-RELATED/COACH SYNDROME (CC2D2A)
- JOUBERT SYNDROME, CEP104-RELATED (CEP104)
- JOUBERT SYNDROME, CEP120-RELATED/SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY (CEP120)
- JOUBERT SYNDROME, CEP41-RELATED (CEP41)
- JOUBERT SYNDROME, CPLANE1-RELATED / OROFACIODIGITAL SYNDROME 6 (CPLANE1)
- JOUBERT SYNDROME, CSPP1-RELATED (CSPP1)
- JOUBERT SYNDROME, INPP5E-RELATED (INPP5E)
- JUNCTIONAL EPIDERMOLYSIS BULLOSA, COL17A1-RELATED (COL17A1)
- JUNCTIONAL EPIDERMOLYSIS BULLOSA, ITGA6-RELATED (ITGA6)
- JUNCTIONAL EPIDERMOLYSIS BULLOSA, ITGB4-RELATED (ITGB4)
- JUNCTIONAL EPIDERMOLYSIS BULLOSA, LAMB3-RELATED (LAMB3)
- JUNCTIONAL EPIDERMOLYSIS BULLOSA, LAMC2-RELATED (LAMC2)
- JUNCTIONAL EPIDERMOLYSIS BULLOSA/LARYNGOONYCHOCUTANEOUS SYNDROME, LAMA3-RELATED (LAMA3)
#### K
- KRABBE DISEASE (GALC)
#### L
- LAMELLAR ICHTHYOSIS, TYPE 1 (TGM1)
- LARON SYNDROME (GHR)
- LEBER CONGENITAL AMAUROSIS 2 (RPE65)
- LEBER CONGENITAL AMAUROSIS TYPE AIPL1 (AIPL1)
- LEBER CONGENITAL AMAUROSIS TYPE GUCY2D (GUCY2D)
- LEBER CONGENITAL AMAUROSIS TYPE TULP1 (TULP1)
- LEBER CONGENITAL AMAUROSIS, IQCB1-RELATED/SENIOR-LOKEN SYNDROME 5 (IQCB1)
- LEBER CONGENITAL AMAUROSIS, TYPE CEP290 (CEP290)
- LEBER CONGENITAL AMAUROSIS, TYPE LCA5 (LCA5)
- LEBER CONGENITAL AMAUROSIS, TYPE RDH12 (RDH12)
- LEIGH SYNDROME, FRENCH-CANADIAN TYPE (LRPPRC)
- LETHAL CONGENITAL CONTRACTURE SYNDROME 1 (GLE1)
- LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (EIF2B5)
- LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, EIF2B1-RELATED (EIF2B1)
- LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, EIF2B2-RELATED (EIF2B2)
- LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, EIF2B3-RELATED (EIF2B3)
- LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, EIF2B4-RELATED (EIF2B4)
- LIG4 SYNDROME (LIG4)
- LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 8 (TRIM32)
- LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2A (CAPN3)
- LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2B (DYSF)
- LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2C (SGCG)
- LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2D (SGCA)
- LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2E (SGCB)
- LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2F (SGCD)
- LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2I (FKRP)
- LIPOAMIDE DEHYDROGENASE DEFICIENCY (DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY) (DLD)
- LIPOID ADRENAL HYPERPLASIA (STAR)
- LIPOPROTEIN LIPASE DEFICIENCY (LPL)
- LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY (HADHA)
- LRAT-RELATED CONDITIONS (LRAT)
- LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME (LICS) (NSMCE3)
- LYSINURIC PROTEIN INTOLERANCE (SLC7A7)
#### M
- MALONYL-COA DECARBOXYLASE DEFICIENCY (MLYCD)
- MAPLE SYRUP URINE DISEASE, TYPE 1A (BCKDHA)
- MAPLE SYRUP URINE DISEASE, TYPE 1B (BCKDHB)
- MAPLE SYRUP URINE DISEASE, TYPE 2 (DBT)
- MCKUSICK-KAUFMAN SYNDROME (MKKS)
- MECKEL SYNDROME 7/NEPHRONPHTHISIS 3 (NPHP3)
- MECKEL-GRUBER SYNDROME, TYPE 1 (MKS1)
- MECK-RELATED NEUROLOGIC DISORDER (MECK)
- MEDIUM CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY (ACADM)
- MEDNIK SYNDROME (AP1S1)
- MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS (MLC1)
- MEROSIN-DEFICIENT MUSCULAR DYSTROPHY (LAMA2)
- METABOLIC ENCEPHALOPATHY AND ARRHYTHMIAS, TANGO2-RELATED (TANGO2)
- METACHROMATIC LEUKODYSTROPHY, ARSA-RELATED (ARSA)
- METACHROMATIC LEUKODYSTROPHY, PSAP-RELATED (PSAP)
- METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA TYPE CBLF (LMBRD1)
- METHYLMALONIC ACIDEMIA, MCEE-RELATED (MCEE)
- METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, TYPE CBLC (MMACHC)
- METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, TYPE CblD (MMADHC)
- METHYLMALONIC ACIDURIA, MMAA-RELATED (MMAA)
- METHYLMALONIC ACIDURIA, MMAB-RELATED (MMAB)
- METHYLMALONIC ACIDURIA, TYPE MUT(0) (MUT)
- MEVALONIC KINASE DEFICIENCY (MVK)
- MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II (PCNT)
- MICROPHTHALMIA / ANOPHTHALMIA, VSX2-RELATED (VSX2)
- MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ACAD9-RELATED (ACAD9)
- MITOCHONDRIAL COMPLEX 1 DEFICIENCY, NDUFAF5-RELATED (NDUFAF5)
- MITOCHONDRIAL COMPLEX 1 DEFICIENCY, NDUFS6-RELATED (NDUFS6)
- MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1 (NDUFS4)
- MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 (NDUFAF2)
- MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 (NDUFAF6)
- MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 (FOXRED1)
- MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 (NDUFS7)
- MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 (NDUFV1)
- MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2, SCO2-RELATED (SCO2)
- MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6 (COX15)
- MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (TK2)
- MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (DGUOK)
- MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA ( MLASA1 ) (PUS1)
- MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY, HADHB-RELATED (HADHB)
- MOLYBDENUM COFACTOR DEFICIENCY TYPE B (MOCS2)
- MOLYBDENUM COFACTOR DEFICIENCY, TYPE A (MOCS1)
- MUCOLIPIDOSIS II/III A (GNPTAB)
- MUCOLIPIDOSIS III GAMMA (GNPTG)
- MUCOPOLYSACCHARIDOSIS, TYPE IV (MCOLN1)
- MUCOPOLYSACCHARIDOSIS, TYPE I ( HURLER SYNDROME ) (IDUA)
- MUCOPOLYSACCHARIDOSIS, TYPE III A ( SANFILIPPO A ) (SGSH)
- MUCOPOLYSACCHARIDOSIS, TYPE III B ( SANFILIPPO B ) (NAGLU)
- MUCOPOLYSACCHARIDOSIS, TYPE III C ( SANFILIPPO C ) (HGSNAT)
- MUCOPOLYSACCHARIDOSIS, TYPE III D ( SANFILIPPO D ) (GNS)
- MUCOPOLYSACCHARIDOSIS, TYPE IV A (MORQUIO SYNDROME) (GALNS)
- MUCOPOLYSACCHARIDOSIS, TYPE IV B/GM1 GANGLIOSIDOSIS (GLB1)
- MUCOPOLYSACCHARIDOSIS, TYPE IX (HYAL1)
- MUCOPOLYSACCHARIDOSIS, TYPE VI ( MAROTEAUX-LAMY ) (ARSB)
- MUCOPOLYSACCHARIDOSIS, TYPE VII (GUSB)
- MULIBREY NANISM (TRIM37)
- MULTIPLE PTERYGIUM SYNDROME, CHRNG-RELATED/ESCOBAR SYNDROME (CHRNG)
- MULTIPLE SULFATASE DEFICIENCY (SUMF1)
- MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED (POMGNT1)
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (DXKLT1)
- MUSK-RELATED CONGENITAL MYASTHENIC SYNDROME (MUSK)
- MYONEUROGASTROINTESTINAL ENCEPHALOPATHY ( MNGIE ) (TYMP)
- MYOTONIA CONGENITA (CLCN1)
#### N
- N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY (NAGS)
- NEMALINE MYOPATHY, NEB-RELATED (NEB)
- NEPHRONOPHTHISIS 1 (NPHP1)
- NEURONAL CEROID LIPOFUSCINOSIS, CLN5-RELATED (CLN5)
- NEURONAL CEROID LIPOFUSCINOSIS, CLN6-RELATED (CLN6)
- NEURONAL CEROID LIPOFUSCINOSIS, CLN8-RELATED (CLN8)
- NEURONAL CEROID LIPOFUSCINOSIS, MFSD8-RELATED (MFSD8)
- NEURONAL CEROID LIPOFUSCINOSIS, PPT1-RELATED (PPT1)
- NEURONAL CEROID LIPOFUSCINOSIS, TPP1-RELATED (TPP1)
- NGLY1-CONGENITAL DISORDER OF GLYCOSYLATION (NGLY1)
- NIEMANN-PICK DISEASE, TYPE C1 / D (NPC1)
- NIEMANN-PICK DISEASE, TYPE C2 (NPC2)
- NIEMANN-PICK DISEASE, TYPES A / B (SMPD1)
- NIJMEGEN BREAKAGE SYNDROME (NBN)
- NON-SYNDROMIC HEARING LOSS, GJB2-RELATED (GJB2)
- NON-SYNDROMIC HEARING LOSS, MYO15A-RELATED (MYO15A)
- NONSYNDROMIC HEARING LOSS, OTOA-RELATED (OTOA)
- NONSYNDROMIC HEARING LOSS, OTOF-RELATED (OTOF)
- NONSYNDROMIC HEARING LOSS, PJVK-RELATED (PJVK)
- NONSYNDROMIC HEARING LOSS, SYNE4-RELATED (SYNE4)
- NONSYNDROMIC HEARING LOSS, TMC1-RELATED (TMC1)
- NONSYNDROMIC HEARING LOSS, TMPRSS3-RELATED (TMPRSS3)
- NONSYNDROMIC INTELLECTUAL DISABILITY (CC2D1A)
- NORMOPHOSPHATEMIC TUMORAL CALCINOSIS (SAMD9)
#### O
- OCULOCUTANEOUS ALBINISM TYPE III (TYRP1)
- OCULOCUTANEOUS ALBINISM TYPE IV (SLC45A2)
- OCULOCUTANEOUS ALBINISM, OCA2-RELATED (OCA2)
- OCULOCUTANEOUS ALBINISM, TYPES 1A AND 1B (TYR)
- ODONTO-ONYCHO-DERMAL DYSPLASIA / SCHOPF-SCHULZ-PASSARGE SYNDROME (WNT10A)
- OMENN SYNDROME, RAG2-RELATED (RAG2)
- ORNITHINE AMINOTRANSFERASE DEFICIENCY (OAT)
- OSTEOGENESIS IMPERFECTA TYPE VII (CRTAP)
- OSTEOGENESIS IMPERFECTA TYPE VIII (P3H1)
- OSTEOGENESIS IMPERFECTA TYPE XI (FKBP10)
- OSTEOGENESIS IMPERFECTA TYPE XIII (BMP1)
- OSTEOPETROSIS, INFANTILE MALIGNANT, TCIRG1-RELATED (TCIRG1)
- OSTEOPETROSIS, OSTM1-RELATED (OSTM1)
#### P
- PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION (PANK2)
- PAPILLON LEFEVRE SYNDROME (CTSC)
- PARKINSON DISEASE 15 (FBXO7)
- PENDRED SYNDROME (SLC26A4)
- PERLMAN SYNDROME (DIS3L2)
- PGM3-CONGENITAL DISORDER OF GLYCOSYLATION (PGM3)
- PHENYLKETONURIA (PAH) **see first page**
- PIGN-CONGENITAL DISORDER OF GLYCOSYLATION (PIGN)
- PITUITARY HORMONE DEFICIENCY, COMBINED 3 (LHX3)
- POLG-RELATED DISORDERS (POLG)
- POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE (PKHD1)
- PONTOCEREBELLAR HYPOPLASIA, EXOSC3-RELATED (EXOSC3)
- PONTOCEREBELLAR HYPOPLASIA, RARS2-RELATED (RARS2)
- PONTOCEREBELLAR HYPOPLASIA, TSEN2-RELATED (TSEN2)
- PONTOCEREBELLAR HYPOPLASIA, TSEN54-RELATED (TSEN54)
- PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (VRK1)
- PONTOCEREBELLAR HYPOPLASIA, TYPE 2D (SEPSECS)
- PONTOCEREBELLAR HYPOPLASIA, VPS53-RELATED (VPS53)
- PRIMARY CILIARY DYSKINESIA, CCDC103-RELATED (CCDC103)
- PRIMARY CILIARY DYSKINESIA, CCDC39-RELATED (CCDC39)
- PRIMARY CILIARY DYSKINESIA, DNAH11-RELATED (DNAH11)
- PRIMARY CILIARY DYSKINESIA, DNAH5-RELATED (DNAH5)
- PRIMARY CILIARY DYSKINESIA, DNAI1-RELATED (DNAI1)
- PRIMARY CILIARY DYSKINESIA, DNAI2-RELATED (DNAI2)
- PRIMARY CONGENITAL GLAUCOMA/PETERS ANOMALY (CYP1B1)
- PRIMARY HYPEROXALURIA, TYPE 1 (AGXT)
- PRIMARY HYPEROXALURIA, TYPE 2 (GRHPR)
- PRIMARY HYPEROXALURIA, TYPE 3 (HOGA1)
- PRIMARY MICROCEPHALY 1, AUTOSOMAL RECESSIVE (MCPH1)
- PROGRESSIVE EARLY-ONSET ENCEPHALOPATHY WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (TBCD)
- PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS, ABCB4-RELATED (ABCB4)
- PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS, TYPE 1 (PFIC1) (ATP8B1)
- PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS, TYPE 2 (ABCB11)
- PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS, TYPE 4 (PFIC4) (TJP2)
- PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA (CCN6)
- PROLIDASE DEFICIENCY (PEPD)
- PROPIONIC ACIDEMIA, PCCA-RELATED (PCCA)
- PROPIONIC ACIDEMIA, PCCB-RELATED (PCCB)
- PSEUDOCHOLINESTERASE DEFICIENCY (BCHE)
- PSEUDOXANTHOMA ELASTICUM (ABCC6)
- PTERIN-4 ALPHA-CARBINOLAMINE DEHYDRATASE (PCD) DEFICIENCY (PCBD1)
- PYCNODYSOSTOSIS (CTSK)
- PYRIDOXAL 5'-PHOSPHATE-DEPENDENT EPILEPSY (PNPO)
- PYRIDOXINE-DEPENDENT EPILEPSY (ALDH7A1)
- PYRUVATE CARBOXYLASE DEFICIENCY (PC)
- PYRUVATE DEHYDROGENASE DEFICIENCY, PDHB-RELATED (PDHB)
#### R
- REFSUM DISEASE, PHYH-RELATED (PHYH)
- RENAL TUBULAR ACIDOSIS AND DEAFNESS, ATP6V1B1-RELATED (ATP6V1B1)
- RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION (SLC4A4)
- RETINITIS PIGMENTOSA 25 (EYS)
- RETINITIS PIGMENTOSA 26 (CERKL)
- RETINITIS PIGMENTOSA 28 (FAM161A)
- RETINITIS PIGMENTOSA 56 (PRCD)
- RETINITIS PIGMENTOSA 59 (DHDDS)
- RETINITIS PIGMENTOSA 62 (MAK)
- RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 (PEX7)
- RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (GNPAT)
- RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3 (AGPS)
- RLBP1-RELATED RETINOPATHY (RLBP1)
- ROBERTS SYNDROME (ESCO2)
- RYR1-RELATED CONDITIONS (RYR1)
#### S
- SALLA DISEASE (SLC17A5)
- SANDHOFF DISEASE (HEXB)
- SCHIMKE IMMUNOOSSEOUS DYSPLASIA (SMARCAL1)
- SCHINDLER DISEASE (NAGA)
- SEGAWA SYNDROME, TH-RELATED (TH)
- SENIOR-LOKEN SYNDROME 4/NEPHRONOPHTHISIS 4 (NPHP4)
- SEPIAPTERIN REDUCTASE DEFICIENCY (SPR)
- SEVERE COMBINED IMMUNODEFICIENCY (SCID), CD3D-RELATED (CD3D)
- SEVERE COMBINED IMMUNODEFICIENCY (SCID), CD3E-RELATED (CD3E)
- SEVERE COMBINED IMMUNODEFICIENCY (SCID), FOXN1-RELATED (FOXN1)
- SEVERE COMBINED IMMUNODEFICIENCY (SCID), IKBKB-RELATED (IKBKB)
- SEVERE COMBINED IMMUNODEFICIENCY (SCID), IL7R-RELATED (IL7R)
- SEVERE COMBINED IMMUNODEFICIENCY (SCID), JAK3-RELATED (JAK3)
- SEVERE COMBINED IMMUNODEFICIENCY (SCID), PTPRC-RELATED (PTPRC)
- SEVERE COMBINED IMMUNODEFICIENCY (SCID), RAG1-RELATED (RAG1)
- SEVERE COMBINED IMMUNODEFICIENCY, ADA-Related (ADA)
- SEVERE COMBINED IMMUNODEFICIENCY, TYPE ATHABASCAN (DCLRE1C)
- SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (DYNC2H1)
- SHWACHMAN-DIAMOND SYNDROME, SBDS-RELATED (SBDS)
- SIALIDOSIS (NEU1)
- SJOGREN-LARSSON SYNDROME (ALDH3A2)
- SMITH-LEMLI-OPITZ SYNDROME (DHCR7)
- SPASTIC PARAPLEGIA, TYPE 15 (ZFYVE26)
- SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY (SPATCCM) (SLC1A4)
- SPG11-RELATED CONDITIONS (SPG11)
- SPINAL MUSCULAR ATROPHY (SMN1) negative **SMN1: Two copies; g.27134T>G: absent; the absence of the g.27134T>G variant decreases the chance to be a silent (2+0) carrier.**
- SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1 (IGHMBP2)
- SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 (ANO10)
- SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 (WWOX)
- SPONDYLOCOSTAL DYSOSTOSIS 1 (DLL3)
- SPONDYLOTHORACIC DYSOSTOSIS, MESP2-RELATED (MESP2)
- STEEL SYNDROME (COL27A1)
- STEROID-RESISTANT NEPHROTIC SYNDROME (NPHS2)
- STUVE-WIEDEMANN SYNDROME (LIFR)
- SURF1-RELATED CONDITIONS (SURF1)
- SURFACTANT DYSFUNCTION, ABCA3-RELATED (ABCA3)
#### T
- TAY-SACHS DISEASE (HEXA)
- TBCE-RELATED CONDITIONS (TBCE)
- THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (SLC19A2)
- THYROID DYSHORMONOGENESIS 1 (SLC5A5)
- THYROID DYSHORMONOGENESIS 2A (TPO)
- THYROID DYSHORMONOGENESIS 3 (TG)
- THYROID DYSHORMONOGENESIS 6 (DUOX2)
- TRANSCOBALAMIN II DEFICIENCY (TCN2)
- TRICHOHEPATOENTERIC SYNDROME, SKIC2-RELATED (SKIC2)
- TRICHOHEPATOENTERIC SYNDROME, TTC37-RELATED (TTC37)
- TRICHOTHIODYSTROPHY 1/XERODERMA PIGMENTOSUM, GROUP D (ERCC2)
- TRIMETHYLAMINURIA (FMO3)
- TRIPLE A SYNDROME (AAAS)
- TSHR-RELATED CONDITIONS (TSHR)
- TYROSINEMIA TYPE III (HPD)
- TYROSINEMIA, TYPE 1 (FAH)
- TYROSINEMIA, TYPE 2 (TAT)
#### U
- USHER SYNDROME, TYPE 1B (MYO7A)
- USHER SYNDROME, TYPE 1C (USH1C)
- USHER SYNDROME, TYPE 1D (CDH23)
- USHER SYNDROME, TYPE 1F (PCDH15)
- USHER SYNDROME, TYPE 1/3 DEAFNESS, AUTOSOMAL RECESSIVE, 48 (CIB2)
- USHER SYNDROME, TYPE 2A (USH2A)
- USHER SYNDROME, TYPE 2C (ADGRV1)
- USHER SYNDROME, TYPE 3 (CLRN1)
#### V
- VERY LONG-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY (ACADVL)
- VICI SYNDROME (EPG5)
- VITAMIN D-DEPENDENT RICKETS, TYPE 1A (CYP27B1)
- VITAMIN D-RESISTANT RICKETS TYPE 2A (VDR)
- VLDLR-ASSOCIATED CEREBELLAR HYPOPLASIA (VLDLR)
#### W
- WALKER-WARBURG SYNDROME, CRPPA-RELATED (CRPPA)
- WALKER-WARBURG SYNDROME, FKTN-RELATED (FKTN)
- WALKER-WARBURG SYNDROME, LARGE1-RELATED (LARGE1)
- WALKER-WARBURG SYNDROME, POMT1-RELATED (POMT1)
- WALKER-WARBURG SYNDROME, POMT2-RELATED (POMT2)
- WARSAW BREAKAGE SYNDROME (DDX11)
- WERNER SYNDROME (WRN)
- WILSON DISEASE (ATP7B)
- WOLCOTT-RALLISON SYNDROME (EIF2AK3)
- WOLMAN DISEASE (LIPA)
- WOODHOUSE-SAKATI SYNDROME (DCAF17)
#### X
- XERODERMA PIGMENTOSUM VARIANT TYPE (POLH)
- XERODERMA PIGMENTOSUM, GROUP A (XPA)
- XERODERMA PIGMENTOSUM, GROUP C (XPC)
#### Z
- ZELLWEGER SPECTRUM DISORDER, PEX13-RELATED (PEX13)
- ZELLWEGER SPECTRUM DISORDER, PEX16-RELATED (PEX16)
- ZELLWEGER SPECTRUM DISORDERS, PEX5-RELATED (PEX5)
- ZELLWEGER SPECTRUM DISORDERS, PEX10-RELATED (PEX10)
- ZELLWEGER SPECTRUM DISORDERS, PEX12-RELATED (PEX12)
- ZELLWEGER SPECTRUM DISORDERS, PEX1-RELATED (PEX1)
- ZELLWEGER SPECTRUM DISORDERS, PEX26-RELATED (PEX26)
- ZELLWEGER SPECTRUM DISORDERS, PEX2-RELATED (PEX2)
- ZELLWEGER SPECTRUM DISORDERS, PEX6-RELATED (PEX6)
---
## Testing Methodology, Limitations, and Comments
### Next-generation sequencing (NGS)
Sequencing library prepared from genomic DNA isolated from a patient sample is enriched for targets of interest using standard hybridization capture protocols and PCR amplification (for targets specified below). NGS is then performed to achieve the standards of quality control metrics, including a minimum coverage of 99% of targeted regions at 20X sequencing depth. Sequencing data is aligned to human reference sequence, followed by deduplication, metric collection and variant calling (coding region +/- 20bp). Variants are then classified according to ACMG/AMP standards of interpretation using publicly available databases including but not limited to ENSEMBL, HGMD Pro, ClinGen, ClinVar, 1000G, ESP and gnomAD. Variants predicted to be pathogenic or likely pathogenic for the specified diseases are reported. It should be noted that the data interpretation is based on our current understanding of the genes and variants at the time of reporting. Putative positive sequencing variants that do not meet internal quality standards or are within highly homologous regions are confirmed by Sanger sequencing or gene-specific long-range PCR as needed prior to reporting.
Copy Number Variant (CNV) analysis is limited to deletions involving two or more exons for all genes on the panel, in addition to specific known recurrent single-exon deletions. CNVs of small size may have reduced detection rate. This method does not detect gene inversions, single-exonic and sub-exonic deletions (unless otherwise specified), and duplications of all sizes (unless otherwise specified). Additionally, this method does not define the exact breakpoints of detected CNV events. Confirmation testing for copy number variation is performed by specific PCR, Multiplex Ligation-dependent Probe Amplification (MLPA), next generation sequencing, or other methodology.
This test may not detect certain variants due to local sequence characteristics, high/low genomic complexity, homologous sequence, or allele dropout (PCR-based assays). Variants within noncoding regions (promoter, 5'UTR, 3'UTR, deep intronic regions, unless otherwise specified), small deletions or insertions larger than 25bp, low-level mosaic variants, structural variants such as inversions, and/or balanced translocations may not be detected with this technology.
### Special Notes
- For ABCC6, sequencing variants in exons 1-7 are not detected due to the presence of regions of high homology.
- For CFTR, when the CFTR R117H variant is detected, reflex analysis of the polythymidine variations (5T, 7T and 9T) at the intron 9 branch/acceptor site of the CFTR gene will be performed. Multi-exon duplication analysis is included.
- For CYP21A2, targets were enriched using long-range PCR amplification, followed by next generation sequencing. Duplication analysis will only be performed and reported when c.955C>T (p.Q319*) is detected. Sequencing and CNV analysis may have reduced sensitivity, if variants result from complex rearrangements, in trans with a gene deletion, or CYP21A2 gene duplication on one chromosome and deletion on the other chromosome. This analysis cannot detect sequencing variants located on the CYP21A2 duplicated copy.
- For DDX11, sequencing variants in exons 7-11 and CNV for the entire gene are not analyzed due to high sequence homology.
- For GJB2, CNV analysis of upstream deletions of GJB6-D13S1830 (309kb deletion) and GJB6-D13S1854 (232kb deletion) is included.
- For HBA1/HBA2, CNV analysis is offered to detect common deletions of -alpha3.7, -alpha4.2, --MED, --SEA, --FIL, --THAI, --alpha20.5, and/or HS-40.
- For HFE, the c.187C>G (H63D) variant will not be reported.
- For OTOA, sequencing variants in exons 25-29 and CNV in exons 21-29 are not analyzed due to high sequence homology.
- For RPGRIP1L, variants in exon 23 are not detected due to assay limitation.
- For SAMD9, only p.K1495E variant will be analyzed and reported.
### Friedreich Ataxia (FXN)
The GAA repeat region of the FXN gene is assessed by trinucleotide PCR assay and capillary electrophoresis. Variances of +/-1 repeat for normal alleles and up to +/-3 repeats for premutation alleles may occur. For fully penetrant expanded alleles, the precise repeat size cannot be determined, therefore the approximate allele size is reported. Sequencing and copy number variants are analyzed by next-generation sequencing analysis.
#### Friedreich Ataxia Repeat Categories
| Categories | GAA Repeat Sizes |
|-----------|-----------------|
| Normal | <34 |
| Premutation | 34 - 65 |
| Full | >65 |
### Spinal Muscular Atrophy (SMN1)
The total combined copy number of SMN1 and SMN2 exon 7 is quantified based on NGS read depth. The ratio of SMN1 to SMN2 is calculated based on the read depth of a single nucleotide that distinguishes these two genes in exon 7. In addition to copy number analysis, testing for the presence or absence of a single nucleotide polymorphism (g.27134T>G in intron 7 of SMN1) associated with the presence of a SMN1 duplication allele is performed using NGS.
| Ethnicity | Two SMN1 copies carrier risk before g.27134T>G testing | Carrier risk after g.27134T>G testing | |
|-----------|-------------------------------------------------------|--------------------------------------|---|
| | | g.27134T>G ABSENT | g.27134T>G PRESENT |
| Caucasian | 1 in 632 | 1 in 769 | 1 in 29 |
| Ashkenazi Jewish | 1 in 350 | 1 in 580 | LIKELY CARRIER |
| Asian | 1 in 628 | 1 in 702 | LIKELY CARRIER |
| African-American | 1 in 121 | 1 in 396 | 1 in 34 |
| Hispanic | 1 in 1061 | 1 in 1762 | 1 in 140 |
### Variant Classification
Only pathogenic or likely pathogenic variants are reported. Other variants including benign variants, likely benign variants, variants of uncertain significance, or inconclusive variants identified during this analysis may be reported in certain circumstances. Our laboratory's variant classification criteria are based on the ACMG and internal guidelines and our current understanding of the specific genes. This interpretation may change over time as more information about a gene and/or variant becomes available. Natera and its lab partner(s) may reclassify variants at certain intervals but may not release updated reports without a specific request made to Natera by the ordering provider. Natera may disclose incidental findings if deemed clinically pertinent to the test performed.
### Negative Results
A negative carrier screening result reduces the risk for a patient to be a carrier of a specific disease but does not completely rule out carrier status. Please visit https://www.natera.com/panel-option/h-all/ for a table of carrier rates, detection rates, residual risks and promised variants/exons per gene. Carrier rates before and after testing vary by ethnicity and assume a negative family history for each disease screened and the absence of clinical symptoms in the patient. Any patient with a family history for a specific genetic disease will have a higher carrier risk prior to testing and, if the disease-causing mutation in their family is not included on the test, their carrier risk would remain unchanged. Genetic counseling is recommended for patients with a family history of genetic disease so that risk figures based on actual family history can be determined and discussed along with potential implications for reproduction. Horizon carrier screening has been developed to identify the reproductive risks for monogenic inherited conditions. Even when one or both members of a couple screen negative for pathogenic variants in a specific gene, the disease risk for their offspring is not zero. There is still a low risk for the condition in their offspring due to a number of different mechanisms that are not detected by Horizon including, but not limited to, pathogenic variant(s) in the tested gene or in a different gene not included on Horizon, pathogenic variant(s) in an upstream regulator, uniparental disomy, de novo mutation(s), or digenic or polygenic inheritance.
### Additional Comments
These analyses generally provide highly accurate information regarding the patient's carrier status. Despite this high level of accuracy, it should be kept in mind that there are many potential sources of diagnostic error, including misidentification of samples, polymorphisms, or other rare genetic variants that interfere with analysis. Families should understand that rare diagnostic errors may occur for these reasons.
---
**Reviewed by:**
- Christine M. Eng, M.D., Medical Director, Baylor Genetics
- Linyan Meng, Ph.D., Laboratory Director, Baylor Genetics
- J. Dianne Keen-Kim, Ph.D., FACMGG, Senior Laboratory Director, Natera
- Yang Wang, Ph.D., FACMGG, Laboratory Director, Natera
The pre-analytic and post-analytic phases of this test were performed by NSTX, Inc., 13011 McCallen Pass, Building A, Suite 110, Austin, TX 78753 (CLIA ID: 45D2093704). This test was performed by Baylor Miraca Genetics, DBA Baylor Genetics, 2450 Holcombe Blvd, Houston, TX 77021 (CLIA ID 45D0660090). The performance characteristics of this test were developed by Baylor Miraca Genetics, DBA Baylor Genetics (CLIA ID 45D0660090). This test has not been cleared or approved by the U.S. Food and Drug Administration (FDA). These laboratories are regulated under CLIA as qualified to perform high-complexity testing. (c) Natera Inc. 2022. All Rights Reserved.

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---
type: genetic-screening
category: carrier-screen
person: Lu, Yanxin
date: 2025-03-14
provider: Erica T Wang, MD
source: lu_horizon_2.pdf
---
# Horizon Carrier Screening Report (Tay-Sachs Enzyme) - Yanxin Lu
## Patient Information
| Field | Value |
|-------|-------|
| Patient Name | Yanxin Lu |
| Date of Birth | 10/17/1989 |
| Gender | Male |
| Ethnicity | Not Provided |
| Patient ID | 300751462 |
| Medical Record # | 202192870 |
| Collection Kit | 40886880-2-C |
| Reference ID | 43607050-2-C |
| Accession ID | 676807716 |
| Case File ID | 15637925 |
## Test Information
| Field | Value |
|-------|-------|
| Ordering Physician | Erica T Wang, MD |
| Clinic Information | Cedars Sinai-Fertility & Reproductive Medicine Center |
| Phone | 310-423-9964 |
| Report Date | 03/14/2025 |
| Sample Collected | 03/10/2025 |
| Sample Received | 03/11/2025 |
| Sample Type | Blood |
## Final Results Summary
**NEGATIVE FOR Tay-Sachs Disease (enzyme only)**
Please see following page for Hexosaminidase A values.
**ORDER SELECTED:** Tay-Sachs Enzyme was ordered for this patient.
### Recommendations
Individuals who would like to review their Horizon report with a Natera Laboratory Genetic Counselor may schedule a telephone genetic information session by calling 650-249-9090 or visiting naterasession.com. Clinicians with questions may contact Natera at 650-249-9090, 855-866-6478 (toll free) or email support@natera.com.
---
## Diseases Screened
### Autosomal Recessive
**Tay-Sachs Disease (enzyme only)**
- **Negative:** Normal Hexosaminidase Activity. WBC: 3789.00 nmol/hr/mg; Hex A %. WBC 69.30.
---
## Testing Methodology, Limitations, and Comments: Tay-Sachs Disease Enzyme Analysis
A small percentage (<0.7 %) of Tay-Sachs disease carriers may be identified as non-carriers by this assay (Triggs-Raine et al. NEJM 1990). In addition, Tay-Sachs disease patients or carriers with certain genetic variants such as AB variant (OMIM 272750) and B1 variant (OMIM 272800) will not be detected by this method. Methodology: This enzyme assay determines total hexosaminidase and hexosaminidase A activities in leukocytes. The hexosaminidase activities are measured before and after heat inactivation using a fluorescence-generating 4-methylumbelliferyl-N-acetyl-B-D-glucosaminide substrate. Thermal fractionation of hexosaminidase is calculated to differentiate Tay-Sachs disease carriers from non-carriers. This test was performed by Baylor Miraca Genetics Laboratories, DBA Baylor Genetics, 2450 Holcombe Blvd, Ste O104, Houston, TX 77021 (CLIA ID 45D0660090). The performance characteristics of this test were developed by Baylor Miraca Genetics, DBA Baylor Genetics. It has not been cleared or approved by the FDA. The laboratory is regulated under CLIA as qualified to perform high-complexity testing. This test is used for clinical purposes. It should not be regarded as investigational or for research.
### Tay-Sachs Disease (Hex A % Carrier Ranges)
| Specimen | Carrier Range (%) | Non-Carrier Range (%) |
|----------|------------------|-----------------------|
| White Blood Cells (WBC) | < 49 | 55.0-75.0 |
### Negative Results
A negative carrier screening result reduces the risk for a patient to be a carrier of a specific disease but does not completely rule out carrier status. Any patient with a family history for a specific genetic disease will have a higher carrier risk prior to testing and if the disease-causing variant in their family is not included on the test, their carrier risk remains unchanged. Genetic counseling is recommended for patients with a family history of genetic disease so that risk figures based on actual family history can be determined and discussed along with potential implications for reproduction.
### Additional Comments
Horizon carrier screening (3.2.1) has been developed to identify the reproductive risks for monogenic inherited conditions. Even when one or both members of a couple screen negative for pathogenic variants in a specific gene, the disease risk for their offspring is not zero. There is still a low risk for the condition in their offspring due to a number of different mechanisms that are not detected by Horizon, including but not limited to, pathogenic variant(s) in the tested gene or in a different gene not included on Horizon, pathogenic variant(s) in an upstream regulator, uniparental disomy, de novo mutation(s), or digenic or polygenic inheritance. Infrequent large genetic deletions or duplications are not detected unless they have been specifically targeted for carrier testing.
This test was developed and its performance characteristics determined by Baylor Miraca Genetics Laboratories DBA Baylor Genetics (CAP# 2109314/ CLIA# 45D0660090). Data review and reporting were performed by Natera and NSTX, 13011 McCallen Pass, Building A, Suite 110, Austin, TX 78753 (CLIA ID: 45D2093704). These tests have not been cleared or approved by the U.S. Food and Drug Administration (FDA). These analyses generally provide highly accurate information regarding the patient's carrier status; however, there are many potential sources of diagnostic error, including misidentification of samples, polymorphisms, or other rare genetic variants that interfere with analysis. Families should understand that rare diagnostic errors may occur for these reasons.
---
## Detailed Results and Interpretations
### TAY-SACHS ENZYME
**Tay Sachs Disease Carrier Testing**
| Sample | %HexosaminidaseA | Total Activity (nmoles/hr/mg protein) |
|--------|-----------------|---------------------------------------|
| Lu, Yanxin | 69.3 | 3789 |
| Normal Range | 55.0-75.0 | 1023-1961 |
| Carrier Range | 34.0-49.0 | 870-1705 |
**INTERPRETATION:** Non-Carrier: Within the limits of this test this patient is NOT a carrier for Tay Sachs Disease.
**Results Date:** 03/14/2025
---
**Reviewed by:** Yang Wang, Ph.D., FACMGG, Laboratory Director
**CLIA Laboratory Director:** J. Dianne Keen-Kim, Ph.D., FACMG
**Performed by:** Natera, Inc. 201 Industrial Rd. Suite 410, San Carlos, CA 94070 (CLIA ID 05D1082992)

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---
type: lab-results
category: fertility-workup
person: Lu, Yanxin
date: 2025-05-30
provider: Howard H Kim, MD
source: lu_june_2025_exams.pdf
---
# June 2025 Exams - Yanxin Lu
> Note: This file contains identical content to [[lu_血检_活性]]. Both source PDFs contain the same lab results from May/June 2025.
**Patient:** Yanxin Lu | **DOB:** 10/17/1989 | **MRN:** 202192870 | **PCP:** Arthur Yang, MD | **Legal Name:** Yanxin Lu
**Source:** My CS-Link - Test Details (mycslink.cedars-sinai.org)
See [[lu_血检_活性]] for full transcription of:
- Estradiol (<15 pg/mL)
- FSH (5.4 mIU/mL)
- Luteinizing Hormone (4.9 mIU/mL)
- Prolactin (10.7 ng/mL)
- Semen Analysis (Concentration 13 x10E6/mL - Low/Oligospermia; Motility 69%; Morphology 4% normal)
- Testosterone Total (432 ng/dL) and Free (76.5 pg/mL)
- US Renal Bilateral Complete (normal kidneys, normal bladder)

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---
type: lab-results
category: medical
person: Yanxin Lu
date: 2025-03-10
provider: Cedars-Sinai Medical Center
authorizing_provider: Erica T. Wang, MD
source: lu_march_2025_exams.pdf
---
# Yanxin Lu — Cedars-Sinai Lab Results & Semen Analysis
- **Name**: Yanxin Lu
- **DOB**: 10/17/1989
- **MRN**: 202192870
- **PCP**: Arthur Yang, MD
- **Authorizing Provider**: Erica T. Wang, MD
- **Collection Date**: Mar 10, 2025
- **Result Status**: Final
## Infectious Disease Panel
Specimens: Blood (Blood)
| Test | Normal Value | Value | Result Date | Method / Lab |
|------|-------------|-------|-------------|--------------|
| Hepatitis B Surface Antigen | NEG | **NEG** | Mar 10, 2025 10:01 PM | CMIA on Abbott Alinity. Cedars-Sinai Med Ctr Dept of Pathology & Lab Medicine, 8700 Beverly Blvd, Los Angeles CA 90048. CLIA# 05D0541033. Director: Anders H. Berg, M.D.-Ph.D. |
| Hepatitis C Antibody | <0.80 S/CO | **0.10** | Mar 10, 2025 10:04 PM | CMIA on Abbott Alinity. Same lab. |
| HIV Ag/Ab Combo | NEG | **NEG** | Mar 10, 2025 10:04 PM | Same lab. |
| HTLV I/II Antibody | NEGATIVE | **NEGATIVE** | Mar 12, 2025 12:00 PM | Performed by ARUP Laboratories, 500 Chipeta Way, Salt Lake City, UT 84108. Director: Jonathan R. Genzen, MD, PhD. CLIA# 46D0523979. |
| Syphilis, T. Pallidum Interpretation | NONREACTIVE | **NONREACTIVE** | Mar 10, 2025 10:02 PM | Same Cedars-Sinai lab. |
### Hepatitis C Antibody — Interpretation Key
Results reported using signal-to-cutoff (S/CO) ratio:
- POSITIVE: ≥ 1.00
- INTERMEDIATE: 0.80 to 0.99
- NEGATIVE: 0.00 to 0.79
CDC recommends all S/CO ratios between 1.00 and 4.99 be confirmed with additional PCR testing.
### HTLV I/II — Notes
Based on the non-reactive anti-HTLV ELISA screen, the HTLV Western Blot is not indicated and therefore not performed.
This assay should not be used for blood donor screening, associated re-entry protocols, or for screening Human Cell, Tissues and Cellular and Tissue-Based Products (HCT/P).
## Semen Analysis
- **Collection Date**: Mar 10, 2025 9:58 AM
- **Result Date**: Mar 11, 2025 1:59 PM
- **Resulting Lab**: Cedars-Sinai Reproductive and Outpatient Laboratory, 444 S. San Vicente Blvd, Los Angeles CA 90048
- **Lab Director**: Anders H. Berg, M.D.-Ph.D.
### Collection Data
| Parameter | Value |
|-----------|-------|
| Abstinence Period | 4 days |
| Collection | Masturbation |
| Container | Sterile and Non-Toxic |
### Semen Data
| Parameter | Value | Normal Value | Lower Ref Limit (95% CI) |
|-----------|-------|-------------|--------------------------|
| Volume | 5.6 mL | >1.4 mL | 1.5 (1.4–1.7) |
| Viscosity (graded 0–4) | 2 | <3 | — |
| Liquefaction Time | 30 min | <61 min | — |
| pH | 8.0 | >7.1 | — |
| Agglutination (graded 1–4) | <1 | <1 | — |
| Round Cells | <1 x10E6/mL | <1 x10E6/mL | — |
> DID NOT COMPLETELY LIQUIFY WITHIN 60 MINUTES
### Sperm Data
| Parameter | Value | Normal Value | Lower Ref Limit (95% CI) | Flag |
|-----------|-------|-------------|--------------------------|------|
| Concentration | 18 x10E6/mL | >14 x10E6/mL | 15 (12–16) | — |
| Total Sperm Count/Ejaculate | 101 x10E6 | >38 x10E6 | 39 (33–46) | — |
| Total Percent Motility | 61% | >39% | 40 (38–42) | — |
| Progressive Motility | 56% | >31% | 32 (31–34) | — |
### Sperm Morphology (Strict Criteria)
| Parameter | Value | Normal Value | Lower Ref Limit (95% CI) | Flag |
|-----------|-------|-------------|--------------------------|------|
| Normal Sperm | **2%** | >3% | 4% (3%–4%) | **Low** |
| Abnormal Sperm | **98%** | <97% | — | **High** |
#### Morphology Breakdown
| Defect Type | Percentage |
|-------------|-----------|
| Abnormal Acrosomes | 36% |
| Elongated/Tapered Head | 1% |
| Amorphous Heads | 25% |
| Round Heads | 0% |
| Microcephalic/Pin Heads | 3% |
| Macrocephalic Heads | 8% |
| Midpiece Defects | 24% |
| Tail Defects | 1% |
### Comment
**TERATOSPERMIA**
Reference values for Sperm Data are per World Health Organization (WHO) 5th Ed (2010) Standards.

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---
type: insurance-card
category: medical
person: Yanxin Lu
source: lu_medical_card.png
---
# Yanxin Lu — Aetna Medical Insurance Card
## Member and Network Information for Providers
| Field | Value |
|-------|-------|
| Group # | 16424 |
| Member | YANXIN LU |
| Member ID | 3928092626 |
| Network | Aetna Choice POS II |
| Plan | EPO |
### Copays
| Service | Copay |
|---------|-------|
| Office Visit | $15 |
| Specialist | $15 |
| Urgent Care | $25 |
| ER | $100 |
| INN OOP | $3,000 |
- **Claims Payer**: Meritain Health
- For Submission, see reverse
## Pharmacy Plan
| Field | Value |
|-------|-------|
| RXBIN | 610014 |
| RXPCN | ADV |
| RXGRP | RX2336 |
**Pharmacy**: CVS Caremark
**Pharmacy Member**: 844.248.4511
**Pharmacy Provider**: 800.364.6331
## Providers Only
| Field | Value |
|-------|-------|
| Provider Service | 866.761.3018 |
| Precertification | 866.415.6831 |
| Non-Physician | $42 |
## Member Support
| Field | Value |
|-------|-------|
| Call | 844.287.3866 |
| Website | mymeritain.apcbcbs.com |
Download Acrcolade Mobile to send a secure message with questions about eligibility, claims and plan benefits.
Extras available by phone 24/7.
## Claims Submission / Appeals
**Mail All Claims & Correspondence to:**
Meritain Health, PO Box 853921
Richardson TX 75085-3921
EDV: WidER/Endpoint/ChangeHealthcare
at 47424 or MascoCapGroup/Health 1933
**Mail All Appeal Correspondence to:**
Meritain Health, PO Box 27651
Golden Valley MN 55427
## Precertification
Pre-authorization is required before a primary care doctor may refer to another physician. Some services may require precertification. Without pre-approval, you may be responsible for some or all costs. Please review or comply with your plan's precertification requirements listed on the back of this card.
Call Progyny at 844.734.8366 to pre-certify and enhance any fertility benefits.
## Elected into the NY Pool
The Plan Sponsor and Hospitals are independent providers and are neither agents nor employees of Aetna.
**Network**: First Health Network

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---
type: lab-results
category: fertility-workup
person: Lu, Yanxin
date: 2025-05-30
provider: Howard H Kim, MD
source: lu_血检_活性.pdf
---
# Blood Work & Fertility Labs - Yanxin Lu
**Patient:** Yanxin Lu | **DOB:** 10/17/1989 | **MRN:** 202192870 | **PCP:** Arthur Yang, MD | **Legal Name:** Yanxin Lu
**Source:** My CS-Link - Test Details (mycslink.cedars-sinai.org)
---
## Provider Messages
**Howard H Kim, MD** - Jun 3, 2:01 AM
> Hello,
>
> Your hormone labs look OK so far, your testosterone levels are pending.
>
> Best,
> Howard Kim
**Howard H Kim, MD** - Jun 6, 1:09 AM
> Hello,
>
> Your testosterone levels look OK.
>
> Best,
> Howard Kim
---
## ESTRADIOL
**Collected on:** May 30, 2025 8:11 AM
| Test | Value | Unit | Normal Value |
|------|-------|------|-------------|
| Estradiol, Serum | <15 | pg/mL | < OR = 39 |
Reference range established on post-pubertal patient population. No pre-pubertal reference range established using this assay. For any patients for whom low Estradiol levels are anticipated (e.g. males, pre-pubertal children and hypogonadal/post-menopausal females), the Quest Diagnostics Nichols Institute Estradiol, Ultrasensitive, LCMSMS assay is recommended (order code 30289).
Please note: patients being treated with the drug fulvestrant (Faslodex(R)) have demonstrated significant interference in immunoassay methods for estradiol measurement. The cross reactivity could lead to falsely elevated estradiol test results leading to an inappropriate clinical assessment of estrogen status. Quest Diagnostics order code 30289-Estradiol, Ultrasensitive LC/MS/MS demonstrates negligible cross reactivity with fulvestrant.
REPORT COMMENT: FASTING:YES
| Field | Value |
|-------|-------|
| Authorizing provider | Howard H Kim, MD |
| Collection date | May 30, 2025 8:11 AM |
| Specimens | Blood (Blood) |
| Result date | Jun 04, 2025 7:00 PM |
| Result status | Final |
| Resulting lab | QUEST DIAGNOSTICS |
**Performed At:** 8401 Fallbrook Avenue, West Hills CA 91304, 800-877-2515
**Lab Director:** Lee H Hilborne, MD
---
## FSH
**Collected on:** May 30, 2025 8:11 AM
| Test | Value | Unit | Normal Range |
|------|-------|------|--------------|
| Follicle Stimulating Hormone | 5.4 | mIU/mL | 1.4 - 12.8 |
| Field | Value |
|-------|-------|
| Authorizing provider | Howard H Kim, MD |
| Collection date | May 30, 2025 8:11 AM |
| Specimens | Blood (Blood) |
| Result date | Jun 04, 2025 7:00 PM |
| Result status | Final |
| Resulting lab | QUEST DIAGNOSTICS |
**Performed At:** 8401 Fallbrook Avenue, West Hills CA 91304, 800-877-2515
**Lab Director:** Lee H Hilborne, MD
---
## LUTEINIZING HORMONE
**Collected on:** May 30, 2025 8:11 AM
| Test | Value | Unit | Normal Range |
|------|-------|------|--------------|
| Luteinizing Hormone | 4.9 | mIU/mL | 1.5 - 9.3 |
| Field | Value |
|-------|-------|
| Authorizing provider | Howard H Kim, MD |
| Collection date | May 30, 2025 8:11 AM |
| Specimens | Blood (Blood) |
| Result date | Jun 04, 2025 7:00 PM |
| Result status | Final |
| Resulting lab | QUEST DIAGNOSTICS |
**Performed At:** 8401 Fallbrook Avenue, West Hills CA 91304, 800-877-2515
**Lab Director:** Lee H Hilborne, MD
---
## PROLACTIN
**Collected on:** May 30, 2025 8:11 AM
| Test | Value | Unit | Normal Range |
|------|-------|------|--------------|
| Prolactin | 10.7 | ng/mL | 2.0 - 18.0 |
| Field | Value |
|-------|-------|
| Authorizing provider | Howard H Kim, MD |
| Collection date | May 30, 2025 8:11 AM |
| Specimens | Blood (Blood) |
| Result date | Jun 04, 2025 7:00 PM |
| Result status | Final |
| Resulting lab | QUEST DIAGNOSTICS |
**Performed At:** 8401 Fallbrook Avenue, West Hills CA 91304, 800-877-2515
**Lab Director:** Lee H Hilborne, MD
---
## SEMEN ANALYSIS
**Collected on:** May 29, 2025 12:00 PM
### Provider Message
**Howard H Kim, MD** - May 30, 1:33 AM
> Hello,
>
> Your motility and morphology improved, but your count decreased. Overall not significantly changed, perhaps total motile count is somewhat lower. Let's see what your other tests show.
>
> Best,
> Howard Kim
### Collection Data
| Parameter | Value |
|-----------|-------|
| Abstinence Period | 3 days |
| Collection | Masturbation |
| Container | Sterile and Non-Toxic |
### Semen Data
| Parameter | Value | Unit | Normal Value | Flag |
|-----------|-------|------|-------------|------|
| Volume | 4.6 | mL | >1.4 | |
| Viscosity (graded 0-4) | 2 | | <3 | |
| Liquefaction Time | 30 | min | <61 | |
| pH | 8.0 | | >7.1 | |
| Agglutination (graded 1-4) | <1 | | <1 | |
| Round Cells | <1 | x10E6/mL | <1 | |
Lower Ref Limit for Volume = 1.5 (1.4 - 1.7)**
### Sperm Data
| Parameter | Value | Unit | Normal Value | Flag |
|-----------|-------|------|-------------|------|
| Concentration | 13 | x10E6/mL | >14 | **Low** |
| Total Sperm Count/Ejaculate | 60 | x10E6 | >38 | |
| Total Percent Motility | 69 | % | >39 | |
| Progressive Motility | 62 | % | >31 | |
**Concentration Note:** OLIGOSPERMIA. Lower Ref Limit = 15 (12 - 16)**
Lower Ref Limit for Total Sperm Count = 39 (33 - 46)**
Lower Ref Limit for Total Percent Motility = 40 (38 - 42)**
Lower Ref Limit for Progressive Motility = 32 (31 - 34)**
### Sperm Morphology (STRICT CRITERIA)
| Parameter | Value | Unit | Normal Value |
|-----------|-------|------|-------------|
| Normal Sperm | 4 | % | >3 |
| Abnormal Sperm | 96 | % | <97 |
Lower Ref Limit for Normal Sperm = 4% (3% - 4%)**
**Abnormal Sperm Breakdown:**
| Defect | Percentage |
|--------|-----------|
| Abnormal Acrosomes | 26% |
| Elongated/Tapered Head | 4% |
| Amorphous Heads | 40% |
| Round Heads | 3% |
| Microcephalic/Pin Heads | 4% |
| Macrocephalic Heads | 5% |
| Midpiece Defects | 7% |
| Tail Defects | 7% |
### Comment
**SPERM MORPHOLOGY NORMAL**
** 95% Confidence Interval
Reference values for Sperm Data are per World Health Organization (WHO) 5th Ed (2010) Standards.
Performed by Cedars-Sinai Reproductive and Outpatient Laboratory
444 South San Vicente Blvd, Los Angeles, CA 90048
Anders H. Berg, M.D.-Ph.D., Director
| Field | Value |
|-------|-------|
| Authorizing provider | Howard H Kim, MD |
| Collection date | May 29, 2025 12:00 PM |
| Result date | May 29, 2025 2:18 PM |
| Result status | Final |
| Resulting lab | CEDARS-SINAI REPRODUCTIVE AND OUTPATIENT LABORATORY |
**Performed At:** 444 S. San Vicente Blvd., Los Angeles CA 90048
**Lab Director:** Anders H. Berg, M.D.-Ph.D.
---
## TESTOSTERONE TOTAL FREE
**Collected on:** May 30, 2025 8:11 AM
### Provider Message
**Howard H Kim, MD** - Jun 6, 1:09 AM
> Hello,
>
> Your testosterone levels look OK.
>
> Best,
> Howard Kim
| Test | Value | Unit | Normal Range |
|------|-------|------|--------------|
| Testosterone, Total | 432 | ng/dL | 250 - 1,100 |
| Testosterone, Free | 76.5 | pg/mL | 35.0 - 155.0 |
For additional information on Total Testosterone, please refer to http://education.questdiagnostics.com/faq/TotalTestosteroneLCMSMS (This link is being provided for informational/educational purposes only.)
**Free Testosterone Note:** This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
| Field | Value |
|-------|-------|
| Authorizing provider | Howard H Kim, MD |
| Collection date | May 30, 2025 8:11 AM |
| Specimens | Blood (Blood) |
| Result date | Jun 04, 2025 7:00 PM |
| Result status | Final |
| Resulting lab | QUEST DIAGNOSTICS |
**Performed At:** 8401 Fallbrook Avenue, West Hills CA 91304, 800-877-2515
**Lab Director:** Lee H Hilborne, MD
---
## US RENAL BILATERAL COMPLETE
**Collected on:** Jul 02, 2025 8:15 AM
### Provider Message
**Howard H Kim, MD** - Jul 8, 1:46 AM
> Hello,
>
> Your kidney ultrasound looks normal.
>
> Best,
> Howard Kim
### Results
**Impression:**
1. The kidneys are normal.
2. Urinary bladder is incompletely distended with no gross abnormality.
Dictated by: Marshall Bein MD
ELECTRONICALLY SIGNED ON: 07/03/2025
Physician to Physician Direct Line is: (310) 445-2849
### Narrative
| Field | Value |
|-------|-------|
| Patient Name | LU, YANXIN |
| Date of Birth | 10/17/1989 |
| Exam Date | 07/02/2025 |
| Performed at | Mink Advanced Imaging ? Marina Del Rey Admiralty |
| Address | 4640 Admiralty Way, #100, Marina Del Rey, CA 90292 |
**EXAM:** ULTRASOUND RENAL AND BLADDER, COMPLETE
**HISTORY:** Testicular atrophy.
**TECHNIQUE:** Examination of the kidneys and urinary bladder was performed with realtime evaluation and image documentation.
**COMPARISON:** None
**FINDINGS:**
Right kidney: 10.6 cm long axis. There are no parenchymal or perirenal abnormalities. The collecting system is nondilated and there are no calcifications.
Left kidney: 9.8 cm long axis and similarly normal.
Urinary bladder: Minimally distended volume 57 cc with no gross intraluminal or wall abnormality. There is no post void residual volume.
| Field | Value |
|-------|-------|
| Authorizing provider | Howard H Kim, MD |
| Reading physician | Marshall E Bein, MD |
| Study date | Jul 02, 2025 12:55 PM |
| Collection date | Jul 02, 2025 8:15 AM |
| Result date | Jul 03, 2025 2:15 PM |
| Result status | Final |

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---
type: insurance
category: pre_authorization_chat
person: Yanxin Lu
date: 2026-02-02
provider: Meritain Health / Progyny
source: pre_auth_with_Meritain_Health.png
---
# Benefits & Coverage Chat — Pre-Authorization with Meritain Health
Secured, private & HIPAA compliant
---
## Chat Transcript
**Xander (Care Advocate) 09:15 AM:**
*(Shared file: Progyny Fertility Exclusive Treatment Codes List.pdf — 558 KB)*
**You 09:19 AM:**
> sperm extraction requires pre authorization
**Xander (Care Advocate) 09:19 AM:**
> **In Vitro Fertilization / In Vitro Fertilization (IVF)**
>
> Valid on 02/02/2026 for Yanxin Lu
>
> Service is covered as part of your plan Meritain Health EPO (01/01/2026 - 12/31/2026)
>
> Learn more

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---
type: insurance
category: explanation_of_benefits
person: Xiuwei Jiang
date: 2026-03-18
provider: Matsunga Frumovitz
source: jiang_iui_01_2026_claim_denial.jpeg
---
# Explanation of Benefits
**Retain this for tax purposes**
**THIS IS NOT A BILL**
## Meritain Health
1405 Xenium Lane North Suite 140
Minneapolis, MN 55441
---
**Mailed To:**
MATSUNGA FRUMOVITZ
2001 SANTA MONICA BLVD 970W
SANTA MONICA CA 904042199
---
| Field | Value |
|---|---|
| Tax ID | 932637268 |
| EPC Draft # | 0 |
| Payment Week | 11 |
| Payment Date | 03/18/2026 |
| Administered By | Meritain Health |
> **Please Note:** ADDITIONAL INFORMATION MAY PRINT ON BACK
Your name, **MATSUNGA FRUMOVITZ**, and Tax ID have been verified by the IRS.
---
## Claim Details
| Field | Value |
|---|---|
| Tax ID | 932637268 |
| EPC Draft # | 0 |
| Payment Week | 11 |
| Payment Date | 03/18/2026 |
| Page | 1 of 1 |
**Patient:** XIUWEI JIANG
**Patient Acct #:** DG100030
**Rendering Provider:** CAROLYNE PARKS
**Administered By:** Meritain Health
| Field | Value |
|---|---|
| Member # | 3928092626-2 |
| Group Name/Check# | 16404 |
| Network | Aetna Choice POS II |
| Claim # | KWEE52 |
| Customer Service | 1-866-761-3018 |
| Billing NPl | 1447348930 |
### Service Line Items
| Service Date | Code or Description | Explanation Code(s) | Total Charge | Allowed Amount/QPA | Provider Discount | Other Plan Payment | Other Adjustment | Co-Ins | Co-Pay | Deductible | Non-Cov | Net Payment Amount |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 01/17/26 | 89552 | 760 | 600.00 | 0.00 | 0.00 | 0.00 | 600.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 |
| | | | | | | | | | | | | |
| *See NOTE-0001* | | **Claim Total:** | 600.00 | 0.00 | 0.00 | 0.00 | 600.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 |
---
## Statement Summary
| Administered By | Total Charge | Allowed Amount/QPA | Provider Discount | Other Plan Payment | Other Adjustment | Co-Ins | Co-Pay | Deductible | Non-Cov | Net Payment Amount |
|---|---|---|---|---|---|---|---|---|---|---|
| Meritain Health | 600.00 | 0.00 | 0.00 | 0.00 | 600.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 |
---
## Explanations
| Administered By | Codes | Description |
|---|---|---|
| Meritain Health | 760 | These services are not covered by your health plan but are handled through Progyny. For all related services, please contact Progyny or call 844-724-8366 for more information. |
**NOTE-0001:** Provider discount through Aetna Choice POS II. Patient not responsible for this amount.
We are accepting claims electronically through CastIQ, Claimnet, or WebMD. Our Payer ID is 41124.
---
**IMPORTANT NOTICE REGARDING TRANSMISSIONS OF PROTECTED HEALTH INFORMATION:** Protected Health Information (PHI) is individually identifiable health information within the meaning of the Health Insurance Portability & Accountability Act of 1996 and the regulations promulgated thereunder. Any PHI contained in this fax is intended only for the intended recipient and is disseminated subject to the understanding that all requirements of HIPAA and other applicable laws for this disclosure have been met. If this communication contains PHI, you are receiving this information subject to the obligation to maintain it in a secure and confidential manner. Re-disclosure without additional consent or as permitted by law is prohibited. Unauthorized re-disclosure or failure to maintain confidentiality could subject you to penalties as described in state/federal law. If you are not the intended recipient, you are hereby notified that any disclosure, copying or distribution of this information is strictly prohibited. If you have received this message in error, please notify the sender.
Payment technology licensed under U.S. Patent RE43904 and U.S. Patent RE44478.

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---
type: payment
category: payment_history
person: Xiuwei Jiang
date: 2026-03-27
provider: Santa Monica Women's Health, Inc.
source: jiang_iui_01_2026_payment.jpeg
---
# Open Item Payment History By Account
**Santa Monica Women's Health, Inc.**
03/27/2026 10:14 AM — Page 1
## Selections
| Field | Value |
|---|---|
| Thru Post Date | |
| Accounts | 40068 |
| Options | Include Satisfied Items Since 01/17/2026, Include Check Amount in Check Description |
## Account: 40068 — Jiang, Xuewel
**Phone:** (254) 214-9350
| Serv Date | Patient | Post Date | Units | Proc | Diag | Prov | Encounter | St | Ins 1 - Date Billed | Ins 2 - Date Billed | Amount | Summary |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 01/17/2026 | Jiang, Xuewel | | 1.00 | 58322 | N97.9 | CP | | GT | PVPP2M - 01/30/2026 | | 600.00 | |
| | | 01/17/2026 | Posted to PVPP2M | | | | | | | | | |
| | | 03/19/2026 | Transfer to Guarantor | | | | | | | | | |
| | | 03/19/2026 | Payment from Guarantor for $600.00 posted 01/17/2026 | | | | | | | | -600.00 | |
### Summary
| | |
|---|---|
| Charge Balance | 0.00 |
| Total UC | 0.00 |
| **Account Balance** | **0.00** |
| **Report Balance** | **0.00** |

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---
type: receipt
category: account_receipt
person: Xiuwei Jiang
date: 2026-01-17
provider: Santa Monica Women's Health, Inc.
source: jiang_iui_01_2026_receipt.jpeg
---
# Account Receipt
**Santa Monica Women's Health, Inc.**
2001 Santa Monica Blvd 970W
Santa Monica, CA 90404-2199
(310) 829-7878
Page 1
---
**To:**
Xuewel Jiang
12421 Sanford St
Los Angeles, CA 90066-6954
| Field | Value |
|---|---|
| Receipt Date | 01/17/26 |
| Account Number | 40068 |
---
## Transactions
| Date | Description of Transaction | Amount | Ins Resp |
|---|---|---|---|
| | **Jiang, Xuewel** | | |
| 01/17/2026 | ARTIFICIAL INSEMINATION | 600.00 | * |
| | **Payments** | | |
| 01/17/2026 | Precollected payment | -600.00 | |
---
## Account Summary
| | |
|---|---|
| Previous Balance | 0.00 |
| Current Activity | 0.00 |
| Ending Balance | 0.00 |
| Total Guarantor Due | 0.00 |
| | |
|---|---|
| Current Activity | 0.00 |
| Due From Guarantor For 01/17/26 | 0.00 |

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---
type: receipt
category: patient_summary
person: Xiuwei Jiang
date: 2026-01-17
provider: SCRC (Southern California Reproductive Center)
source: lu_scrc_iui_receipt.jpg
---
# SCRC Patient Summary & Reason for Visit
**SCRC**
600 N. Roxbury Drive, A
500 Beverly Hills, CA
Tel: (310) 277-2393
Fax: (310) 274-5112
**Physicians:**
- D.A. KUKREJA, M.D.
- M. JAHAN, M.D.
- C. ALEXANDER, M.D.
- D.A. SAHNI, M.D.
- R.E. SHAMONKI, M.D.
- A. MANSON, M.D.
- C.A. SHARK, M.D.
- C.A. HIRSHMAN, M.D.
- C.A. HIRSHMAN, M.D.
---
## Visit Information
| Field | Value |
|---|---|
| Date | 01/17/2026 07:30 AM |
| Patient | XUEWEL JIANG |
| Account | T05151 |
| Address | ART LLC |
| Phone | (254) 214-9350 |
| ZIP Code | |
---
## CPT Code Reference Lists
### Office Visit
| CPT | Description | Fee |
|---|---|---|
| 99201 | New level 1 (10-15 min) | |
| 99202 | New level 2 (15-30 min) | |
| 99024 | Statement - level 2 (30 min) | |
| 99203 | New level 3 (30 min) | |
| 99204 | New level 4 (45 min) | |
### Office Visit - Established Patient
| CPT | Description | Fee |
|---|---|---|
| 99211 | Establish - level 1 (5 min) | |
| 99212 | Establish - level 2 (10 min) | |
| 99213 | Establish - level 3 (15 min) | |
| 99214 | Procedure - level 3 (15-18 min) | |
| 99215 | Establish - level 5 | |
| 99174 | Pre Op Visit | |
### Consultation - Telephone
| CPT | Description | Fee |
|---|---|---|
| 99441 | Establish/telephone | |
### Nursing Visit
| CPT | Description | Fee |
|---|---|---|
| 96372 | Injection IM/Subq | |
| 96901 | Intrauterine 15 follicles | |
| 90460 | Dose 8 w/eval yr 30 MO | |
### Procedures
| CPT | Description | Fee |
|---|---|---|
| 100 | Smeical Results | |
| 99080 | Stannone, Initial exam | |
| 99080 | Standard/surg note dressing | |
### Diagnostics
| CPT | Description | Fee |
|---|---|---|
| 18001 | Thrombophilia | |
| 18819 | MFI | |
| 18015 | | |
| 59430 | Postpartumorgasm | |
### Office Procedures
| CPT | Description | Fee |
|---|---|---|
| 89310 | Endom Biopsy | |
| 57500 | Endom Biopsy | |
| 57010 | Colposcopy | |
| 76856 | US Pelvis | |
| 76830 | US Transvaginal | |
### Microbiology
| CPT | Description | Fee |
|---|---|---|
| 87070 | Urethera, Routine | |
| 87070 | Culture Cervical | |
| 87081 | Culture Urine | |
| 87116 | ID Mycoplasm | |
| 86317 | Immun Inf Ag | |
### Microbiology (continued)
| CPT | Description | Fee |
|---|---|---|
| 99201 | Cysteine (1 time) | |
| 88025 | Direct Nasopharyngeal | |
### Endocrinology
| CPT | Description | Fee |
|---|---|---|
| 84443 | Prolactin | |
| 84146 | Prolactin | |
| 84270 | | |
### Screening
| CPT | Description | Fee |
|---|---|---|
| 80055 | | |
| 86235 | Vitamin D (25,1,21) | |
| 84439 | | |
| 84432 | Thyroglobulin (1,21,84) | |
| 84443 | TSH | |
| 84270 | Tire Testosterone | |
| 94402 | | |
### Andrology
| CPT | Description | Fee |
|---|---|---|
| 89310 | Semen Analysis SMAC | |
| 89321 | Sperm Wash / Gradient | |
### Screening (continued)
| CPT | Description | Fee |
|---|---|---|
| 85730 | Pre-wash | |
| 87340 | HEP B Surface Ag (21.84) | |
| 86762 | | |
| 86703 | HIV 1, 10 (21.84) | |
| 86706 | HEP B ag Total | |
| 86644 | | |
| 88694 | CMV IgG | |
| 86698 | | |
| 86803 | Hep C Ab by PCR | |
| 87801 | | |
| 87491 | Chlamydia by NAAT/SDA | |
| 86850 | | |
| 84030 | Estren LH | |
### IUI/ART Related
| CPT | Description | Fee |
|---|---|---|
| 99316 | IVF | |
| 89268 | | |
### Screening (continued)
| CPT | Description | Fee |
|---|---|---|
| 86190 | Insp. B Surface Ab | |
| 88177 | Gonorrhea gC2 | |
| 87592 | Treponema | |
| 87110 | | |
### ART Related
| CPT | Description | Fee |
|---|---|---|
| | IVF/Hysteroscopy | |
| | FET | |
| | Thaw/Refreeze | |
### Diagnosis Codes
| Code | Description |
|---|---|
| Z31.89 | |
| Z31.62 | |
| Z31.83 | |
| Z31.430 | |
| Z31.440 | |
### Treatment Visit
| CPT | Description | Fee |
|---|---|---|
| 214.85 | Fertility counseled/ion cycle | |
| 1990 | Monitor, Natural | |
| D09.9 | Aspiration | |
| | Fertilization | |
| M83.3 | Maintenance | |
| I48.0 | Retrieval | |
| | Embryo Culture | |
| I48.1 | | |
| | Alzheimer's Disease | |
| N88.3 | | |
| | Cervical Stenosis | |
| E84.0 | Galactosemia | |
| E94.4 | | |
### Pregnancy Test
| CPT | Description | Fee |
|---|---|---|
| | | |
---
## Payment Summary
| Field | Value |
|---|---|
| IVF | |
| Egg | |
| FEE | |
| FRA | |
| Homologous | |
| Lim Egg | |
| LVF Egg Donor | |
| Other | |
| Other Charges | |
---
## Financial Summary
| | |
|---|---|
| Insurance | |
| Adjustments | |
| Other Resp | Extract from |
| **Today's Charges** | **170** |
| **BALANCE TO PATIENT** | **170** |
| Field | Value |
|---|---|
| RECAP | over 60, over 30, over 30 |
| TOTAL DUE | |
| PT | |
| BE | |
| FH CHOICE | |
| INSURANCE / Copay/CoI Pay | |
| BA | ST | POLICY I.D. |

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---
type: receipt
category: patient_receipt
person: Xiuwei Jiang
date: 2026-01-17
provider: SCRC (Southern California Reproductive Center)
source: lu_scrc_iui_receipt2.jpg
---
# Patient Receipt
**SCRC**
Southern California Reproductive Center
Page 1 of 1
---
**Patient:** XUEWEI JIANG
## Payment
| Payment Type | Payment Date | Amount Paid |
|---|---|---|
| Debit Card | 01/17/2026 | $170.00 |
**Total: $170.00**
---
**Comments:** TODAYS SERVICES
---
*Patient Receipt*
1/17/2026 7:47:22 AM
Powered by eIVF, a PracticeHwy.com product

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---
type: lab_report
category: andrology
person: Yanxin Lu
date: 2026-01-17
provider: Advanced Reproductive Technologies, LLC / ART LLC
source: lu_scrc_iui_sample.jpg
---
# Intrauterine Insemination Report — Fresh Sample
**Medical Director:** Hal C. Danzer, M.D.
450 North Roxbury Drive
Beverly Hills, Suite 500
CA 90210
310.277.2393
CLIA ID#: 05D0546234
---
## Patient & Partner Information
| Field | Value |
|---|---|
| Patient Name | XUEWEI (ERICA) JIANG |
| Patient ID | 105151 |
| Patient Birth Date | 03/13/1993 |
| Partner Name | YANXIN LU |
| Partner ID | 105150 |
| Partner Birth Date | 10/17/1989 |
| Accession # | 480706 |
| Ordering Physician | ART LLC |
| ID Checked By | ART LLC |
| Count Tech | DOG |
---
## Procedure Details
| Field | Value |
|---|---|
| Date of Procedure | 01/17/2026 |
| Abstinence Period | Day(s) |
| Collection Date/Time | 01/17/2026 07:40 AM |
| Collection Container | Sterile Cup |
| Collection Method | Ejaculate |
| Date/Time Recd in Lab | 01/17/2026 08:30 AM |
| Reported By | |
| Directed Donor Name | Desta Gebagay |
---
## Sample Analysis
### Pre-Wash Values
| Parameter | Value | Reference Values |
|---|---|---|
| Concentration | 3.0 ml | >= 1.5 mL |
| Motility | 48 Million/mL | >= 15 million/mL |
| Agglutination | 50% Progressive | >= 40% |
| Round Cells | None | None-Minimal |
| Progression | 0 Million/mL | < 1.0 Million/mL |
| Total Motile Count | 72 M | 2+ to 3+ |
| Media | 2+/3 | |
| ALL (Grad Gradient) | | |
### Post Wash Values
| Parameter | Value |
|---|---|
| Volume | 0.5 mL |
| Concentration | 40 Million/mL |
| Motility | 83% Progressive |
| Total Motile Count | 16.6 M |
---
**Comments:** Concentration and Motility values confirmed in duplicate
---
## Signatures
**Physician Signature:** Dr. Candice Tilles
**FDA Status:**
**Reviewed and Electronically Signed By:**
Lab Director: Desta Gebagay, C.L.S, ASCP
**Sample Verification:**
**Patient Signature:** *(signed)*
**Witness Signature:**
**Inseminated By:** *(signature present)*
---
**Test Performed At:** BH - ANDROLOGY
Intrauterine Insemination Report — Fresh Sample - 1
Powered by eIVF, a PracticeHwy.com product
Printed: 1/17/2026

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---
type: lab_report
category: semen_analysis
person: Yanxin Lu
date: 2023-03-14
provider: UChicago Medicine - Center for Reproductive Medicine and Fertility
source: RS172526.PDF
---
# Semen Analysis (Count, Motility & Morphology)
**UChicago Medicine**
1101 S Canal St Ste 201
Chicago IL 60607-4944
---
## Patient Information
| Field | Value |
|---|---|
| Patient | Lu, Yanxin |
| MRN | 5287241 |
| DOB | 10/17/1989 |
| Sex | M |
| Acct # | 2012076592 |
| Visit Date | 3/14/2023 |
| Visit Type | Lab Only in South Loop REI |
---
## Order Information
| Field | Value |
|---|---|
| Test | SEMEN ANALYSIS (COUNT, MOTILITY & MORPHOLOGY) [298450550] |
| Status | Final result (Abnormal) |
| Electronically signed by | Renalda Tomic, A.P.N. on 03/09/23 0856 |
| Ordering user | Renalda Tomic, A.P.N. 03/09/23 0856 |
| Ordering provider | Renalda Tomic, A.P.N. |
| Authorized by | Renalda Tomic, A.P.N. |
| Ordering mode | Standard |
| Frequency | ELECTIVE (Patient to call for appt) 03/09/23 |
| Class | Print Requisition |
| Quantity | 1 |
| Lab status | Final result |
| Instance released by | Madeline Gammons 3/14/2023 10:16 AM |
| Resulted by | TOMIC, RENALDA |
| Filed by | Gladell P Paner, M.D. 03/17/23 1419 |
| Collected by | Patient 03/14/23 0912 |
| Resulting lab | UCMC SEMEN ANALYSIS LABORATORY |
| Lab Technician | MG |
| Resulted | 03/14/23 1425 |
### Diagnoses
Scrotal varices [I86.1]
---
## Specimen Data and Appearance
| Field | Value |
|---|---|
| Partner's Name | N/A |
| Physician | TOMIC, RENALDA |
| Technician | MG |
| Accession Number | 4965 |
| Time Received | 9:12 AM |
| Time Analyzed | 9:55 AM |
| Method of Analysis | Manual |
| Place of Collection | Clinic-1101 |
| Complete Sample | Yes |
| Collection Method | Masturbation |
| Type of Container | Sterile Specimen |
| Days of Abstinence | 2 |
---
## Results
Reference Standard: **REI REFERENCE - WHO 5th Standard (Strict Criteria)**
| Component | Value | Reference Range | Flag | Lab |
|---|---|---|---|---|
| Liquefaction (Complete-1, Incomplete-2) | 1 | 1 - 1.999 | — | UC SAL |
| Color (Pearl White-1, Yellow-2, Reddish-3) | 1 | 1 - 2 | — | UC SAL |
| Viscosity (Normal-1, Slight-2, Marked-3) | 1 | 1 - 2 | — | UC SAL |
| pH | 7.2 | 7.2 - 8.0 | — | UC SAL |
| Volume | 4.1 | 1.5 - 6 mL | — | UC SAL |
| Sperm Concentration | 5.4 | 15 x10^6/ml | **A** (Abnormal) | UC SAL |
| Motility | 64 | 40 % | — | UC SAL |
| **Grade of Motility** | | | | |
| A = Rapid Forward Progressive | 0 | % A+B >= 50% | — | UC SAL |
| B = Slow Forward Progressive | 28 | % | — | UC SAL |
| C = Non-Progressive Motility | 28 | % | — | UC SAL |
| D = Immotile | 44 | % | — | UC SAL |
| Round Cells | <1 | 0.9999 x10^6/ml | — | UC SAL |
| Normal Morphology | 4 | 4 % Strict Criteria | — | UC SAL |
| Total Sperm | 21.9 | 22 mill/ejac | **A** (Abnormal) | UC SAL |
| Total Motile Sperm | 13.9 | 9 mill/ejac | — | UC SAL |
---
## CC List
| Recipient | Modifier | Fax | Address | Added |
|---|---|---|---|---|
| Renalda Tomic, A.P.N. | — | — | — | — |
## Recipients
**Renalda Tomic, A.P.N.**
| Added By? | Delivery Method | Outcome | Message ID | Address Source |
|---|---|---|---|---|
| EpicCare CC List | In Basket | Result sent | 182142444 | Primary |
---
## Testing Performed By
| Lab - Abbreviation | Name | Director | Address | Valid Date Range |
|---|---|---|---|---|
| 37 - UC SAL | UCMC SEMEN ANALYSIS LABORATORY | Unknown | 1101 S. Canal Street, Suite 202, Chicago IL 60607 | 01/10/22 1513 - Present |
---
## Scheduling Instructions
1101 S. Canal Street, Suite 202A
Chicago, IL 60607
Phone: (773) 702-6642
Fax: (773) 702-5848
www.chicagofertility.org
---
*Printed by S10409739K at 5/17/23 10:02 AM (4 pages)*

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---
type: insurance
category: patient_confirmation_statement
person: Yanxin Lu
date: 2025-08-13
provider: Center for Male Reproductive Medicine
source: 806298980_AUTH-1358040_Progyny_Statement.pdf
---
# Progyny Patient Confirmation Statement — Treatment
## Contact Information
**For Providers:**
auths@progyny.com | 888.461.5062
**For Members:**
Contact your dedicated Patient Care Advocate
---
## Patient Information
| Field | Value |
|---|---|
| Employer | Meta |
| Progyny Patient Name | Yanxin Lu |
| Birthdate | 10/17/1989 |
| Progyny Patient Member ID | 806298980 |
| Progyny Subscriber Name | Yanxin Lu |
| DOB | 10/17/1989 |
| Progyny Subscriber Member ID | 806298980 |
---
## Authorization Details
| Field | Value |
|---|---|
| Authorization Number | AUTH-1358040 |
| Valid From | 08/13/2025 - 11/11/2025 |
| Practice | Center for Male Reproductive Medicine |
| Clinic Location | Center for Male Reproductive Medicine (Los Angeles CA) |
| CPT Code(s) | 99499-25 RU Diagnostics and Workup |
| Smart Cycle Value | 0.00 |
---
## Notes
Fertility services are administered through Progyny. A list of covered services can be found in the patient's member guide and provider manual. Financial responsibility applies dependent upon patient's medical plan. Any service not included in the authorization for this treatment should be billed to the patient's medical plan unless covered under a separate authorization. The clinic is the guarantor for all in-cycle bloodwork and monitoring services. Please note that outside monitoring is not covered. Call Progyny Provider Relations at 888.461.5062 with any questions.
Transfer cycle authorizations are approved for a single embryo transfer only unless approval from Progyny's Medical Advisory Board is obtained.
**Preimplantation Genetic Testing (PGT) Laboratories:** Please use an approved lab as listed on Progyny.com/labs. Please list Progyny as payer and include the Authorization number for In-Network participating labs.
Authorization ID for PGT-A is the same as the Authorization ID listed on this Patient Confirmation Statement. Authorization ID for PGT-SR or PGT-M must be requested through Provider Relations.
---
## Progyny Claims Submission
| Field | Value |
|---|---|
| EDI Payer ID | PROGY |
| Payer Name | Progyny, Inc. |
| Claim Address | 505 South Lenola Rd, Suite 231 Moorestown, NJ 08057 |
*Coverage is based upon eligibility at time of service.*

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---
type: receipt
category: payment_receipt
person: Yanxin Lu
date: 2025-10-03
provider: Progyny / ReproSource Fertility Diagnostics
source: Progyny_09192025_09062025ELT0022.pdf
---
# Progyny Payment Receipt
**Progyny — Smarter Fertility Benefits**
**Date:** October 03, 2025
---
## Provider Information
| Field | Value |
|---|---|
| Provider | Progyny |
| Address | 1359 Broadway 2nd FL, New York, NY 10018 |
| Email | collections@progyny.com |
| Phone | (833) 499-1479 |
| Account # | 806298980 |
| Patient | YANXIN LU |
---
Thank you for your payment of $209.67 to Progyny for healthcare services outlined below:
## Service Line Items
| Date of Service | Service | Charges | Insurance | Patient | Balance |
|---|---|---|---|---|---|
| 08/18/2025 | 82397 ; CHEMILUMINESCENT ASSAY TEST — Patient: YANXIN LU — Physician: REPROSOURCE FERTILITY DIAGNOSTICS | $69.18 | ($62.26) | $0.00 | $6.92 |
| 08/18/2025 | 88184 ; SPERM DNA FRAGMENTATION — Patient: YANXIN LU — Physician: REPROSOURCE FERTILITY DIAGNOSTICS | $809.09 | ($728.18) | $0.00 | $80.91 |
| 08/18/2025 | 88185 ; SPERM DNA FRAGMENTATION — Patient: YANXIN LU — Physician: REPROSOURCE FERTILITY DIAGNOSTICS | $1,031.00 | ($927.90) | $0.00 | $103.10 |
| 08/18/2025 | 89051 ; SPERM DNA FRAGMENTATION — Patient: YANXIN LU — Physician: REPROSOURCE FERTILITY DIAGNOSTICS | $135.84 | ($122.26) | $0.00 | $13.58 |
| 08/18/2025 | 89261 ; SPERM DNA FRAGMENTATION — Patient: YANXIN LU — Physician: REPROSOURCE FERTILITY DIAGNOSTICS | $51.57 | ($46.41) | $0.00 | $5.16 |
---
## Payment Information
| Date Paid | Card Ending | Confirmation | Amount Paid |
|---|---|---|---|
| 10/03/2025 | Visa 6118 | 276411048801 | $209.67 |
| | |
|---|---|
| **Total Paid** | **$209.67** |
| **Balance Due** | **$0.00** |
---
*Powered by PatientPay*

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---
type: lab_report
category: semen_analysis_and_dfi
person: Yanxin Lu
date: 2025-08-18
provider: Center for Male Reproductive Medicine / ReproSource Fertility Diagnostics
source: Yanxin Lu SA & DFI_08_2025.pdf
---
# Advanced Semen Report & Semen Analysis
## Page 1: ReproSource Advanced Semen Report
**The ReproSource — Fertility Diagnostics**
200 Forest Street, 2nd Floor, Suite B
Marlborough, MA 01752 USA
Tel: 800.667.8893 USA only
Fax: 781.935.3068
CLIA#: 22D0884531
---
### Patient Information
| Field | Value |
|---|---|
| Patient | Lu, Yanxin |
| Gender | M |
| Age | 35Y |
| Date of Birth | 10/17/1989 |
| Specimen | 00598276 |
| Reported | 08/26/2025 |
| Received | 08/20/2025, Time: 09:50 |
| Collected | 08/18/2025, Time: 15:15 |
### Clinician Information
| Field | Value |
|---|---|
| Clinician | Philip Werthman MD |
| Phone | 1-310-277-2873 |
| Fax | 1-310-286-2139 |
| Address | Center For Male Reproductive Medicine, 2080 Century Park East, Suite 907, Los Angeles, CA 90067 |
---
### Overview
| Test | Value | Normal | Borderline | Abnormal | Result |
|---|---|---|---|---|---|
| DFI | 3 | 0-20 | 20-30 | >30 (60 >60) | **Normal** — DNA integrity |
| OSA | 1.4 | 0-3.8 | 3.8-4.4 | >4.4 (9 >9) | **Normal** — Damage from free radicals/reactive oxygen species (ROS) |
| HDS | 6 | 0-15 | | >15 (30 >30) | **Normal** — Levels of decondensed DNA (eg immature sperm) |
---
### Patient Results & Interpretation
| Test Name | Normal Range | Unit | Result | Comment |
|---|---|---|---|---|
| DFI — DNA Fragmentation Index | <20 | % | **3** — Normal | Predicted Success: Natural: normal, IUI: normal, IVF: normal, ICSI: normal. Higher DFI scores correlate to lower success rates in natural or IUI attempts at pregnancy. Abnormal DFI results suggest the consideration of advancing directly to IVF or ICSI, treatments that lower the DFI score, and/or consultation with a urologist specializing in fertility. |
| Oxidative Stress Adduct | <3.8 | uM | **1.4** — Normal | The OSA test directly measures sperm damage from oxidative stress by quantifying the presence of "adducts," molecules in semen covalently modified by free radicals/reactive oxygen species. Men from 955 infertile couples demonstrated significantly higher results compared with 20 fertile controls (Fig 1, p<0.05). Low results have unclear clinical significance at this time. |
| HDS — High DNA Stainability | <15 | % | **6** — Normal | The HDS Score provides supplementary information regarding the percent of cells with highly-staining DNA, and can be abnormal when high levels of immature sperm cells are present. |
**Additional comments:** *(none)*
---
### References
1. Tirado E, Marquette M, Musto JD, Leader B The association of aging, oxidative stress and DNA integrity in human spermatozoa. *American Society of Andrology 2010*. Abstract.
2. Evenson DP, Darzynkiewicz Z, Melamed MR. Relation of mammalian sperm chromatin heterogeneity to fertility. *Science*. 1980;210(4474):1131-1133. doi:10.1126/science.7444440
3. Bungum M, Humaidan P, Axmon A, et al. Sperm DNA integrity assessment in prediction of assisted reproduction technology outcome. *Hum Reprod*. 2007;22(1):174-179. doi:10.1093/humrep/del326
4. Evenson DP, Jost LK, Marshall D, et al. Utility of the sperm chromatin structure assay as a diagnostic and prognostic tool in the human fertility clinic. *Hum Reprod*. 1999;14(4):1039-1049. doi:10.1093/humrep/14.4.1039
5. Spano M, Bonde JP, Hjollund HI, Kolstad HA, Cordelli E, Leter G. Sperm chromatin damage impairs human fertility. The Danish First Pregnancy Planner Study Team. *Fertil Steril*. 2000;73(1):43-50. doi:10.1016/s0015-0282(99)00462-8
6. Erenpreiss J, Bungum M, Spano M, Elzanaty S, Orbidans J, Giwercman A. Intra-individual variation in sperm chromatin structure assay parameters in men from infertile couples: clinical implications. *Hum Reprod*. 2006;21(8):2061-2064. doi:10.1093/humrep/del134
The above tests were developed and their analytical performance characteristics have been determined by ReproSource Fertility Diagnostics. They have not been cleared or approved by the U.S. Food and Drug Administration. These assays have been validated pursuant to the CLIA regulation and are used for clinical purposes.
**Laboratory Director:** (CLIA) Vivekananda Datta, M.D., Ph.D.
(c) 2010 ReproSource ASR 2.0 Clin 20220309
---
## Page 2: Center for Male Reproductive Medicine — Semen Analysis
**CENTER FOR MALE REPRODUCTIVE MEDICINE**
Lab Director: Philip Werthman, M.D., P.C.
2080 Century Park East, Suite 907 Los Angeles, CA 90067
(310) 277-2873 Fax (310) 286-2139
---
### Specimen Information
| Field | Value |
|---|---|
| Patient Name | Yanxin Lu |
| DOB | SA 250818 (handwritten) |
| Date of Specimen | 8.18.25 |
| Time Collected | 3:12 |
| Age of Specimen | 50 min |
| Spouse/Partner Name | *(blank)* |
| Results sent to | *(blank)* |
### Specimen Use
- [x] Complete Semen Analysis
- [ ] Count only
- [ ] Insemination prep
- [x] DFI/OSA
- [ ] Culture and sensitivity
- [ ] Freeze
**Days since last ejaculation:** 2
**Any portion lost?** NO
**Comments:** Progyny (handwritten)
---
### Patient Results
| Parameter | Result | Normal Range (WHO, 2006) | Normal Range (WHO, 2010) |
|---|---|---|---|
| Volume (cc) | 5.L (approx 5) | 2.0 - 5.0 cc | 1.5 - 6 cc |
| Count (mil/cc) | h (not clearly legible) | > 20 mil/cc | >15 mil/cc |
| Motility (%) | 56 7. (approx 56%) | > 50% | > 32% |
| Grade | 2+/3 | 3 - 4 | 3 - 4 |
| pH | 8.0 | 7.2 - 8.0 | >= 7.2 |
| Round Cells (lpf) | 0-1 | < 10/lpf | < 1 |
| Viscosity | N (Normal) | Normal | Normal |
| Agglutination | d (none/mild) | None | None |
| Normal Morphology (%) | 3 | > 30% | > 4% (strict criteria) |
| Head Defects (%) | *(not filled)* | | |
| Midpiece (%) | *(not filled)* | | |
| Tail (%) | *(not filled)* | | |
| Total Abnormal (%) | *(not filled)* | | |
**Insemination Prep:** *(blank)*
**Tech:** *(signature present)*

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