553 lines
28 KiB
Markdown
553 lines
28 KiB
Markdown
---
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type: genetic-screening
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category: carrier-screen
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person: Jiang, Xuewei
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date: 2025-03-20
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provider: Erica T Wang, MD
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source: jiang_horizon.pdf
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---
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# Horizon Carrier Screening Report (Custom Panel) - Xuewei Jiang
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## Patient Information
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| Field | Value |
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|-------|-------|
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| Patient Name | Xuewei Jiang |
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| Date of Birth | 03/13/1993 |
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| Gender | Female |
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| Ethnicity | Other |
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| Patient ID | N/A |
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| Medical Record # | 203300739 |
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| Collection Kit | 43606683-2-C |
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| Accession ID | N/A |
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| Case File ID | 15977489 |
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## Test Information
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| Field | Value |
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|-------|-------|
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| Ordering Physician | Erica T Wang, MD |
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| Clinic Information | Cedars Sinai-Fertility & Reproductive Medicine Center |
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| Phone | 310-423-9964 |
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| Report Date | 03/20/2025 |
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| Sample Collected | 03/06/2025 |
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| Sample Received | 03/07/2025 |
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| Sample Type | Blood |
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**ORDER SELECTED:** The Horizon Custom panel was ordered for this patient.
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---
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## Final Results Summary
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### Pseudodeficiency VARIANT DETECTED for Glycogen Storage Disease, Type 2 (Pompe Disease)
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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.
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### Negative for 613 out of 613 diseases
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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/.
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Carrier screening is not diagnostic and may not detect all possible pathogenic variants in a given gene.
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---
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## Key Findings
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### Spinal Muscular Atrophy (SMN1)
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**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.
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| 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) |
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|-----------|------------------------------------------------------|-----------------------------------------------|------------------------------------------------|
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| Caucasian | 1 in 632 | 1 in 769 | 1 in 29 |
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| Ashkenazi Jewish | 1 in 350 | 1 in 580 | LIKELY CARRIER |
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| Asian | 1 in 628 | 1 in 702 | LIKELY CARRIER |
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| African-American | 1 in 121 | 1 in 396 | 1 in 34 |
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| Hispanic | 1 in 1061 | 1 in 1762 | 1 in 140 |
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### Fragile X Syndrome (FMR1)
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**Negative** - 30 and 29 CGG repeats were detected in the FMR1 genes.
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### Fragile XE Syndrome (AFF2)
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**Negative** - 18 and 13 CCG repeats were detected in the AFF2 genes.
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---
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## Diseases Screened - Autosomal Recessive (All Negative Unless Noted)
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### 1
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- 17-BETA HYDROXYSTEROID DEHYDROGENASE 3 DEFICIENCY (HSD17B3) negative
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### 3
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- 3-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE II DEFICIENCY (HSD3B2) negative
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- 3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY (HMGCL) negative
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- 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (HADH) negative
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- 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (MCCC1) negative
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- 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (MCCC2) negative
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- 3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY (PHGDH) negative
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### 5
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- 5-ALPHA-REDUCTASE DEFICIENCY (SRD5A2) negative
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### 6
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- 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE (PTPS) DEFICIENCY (PTS) negative
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### A
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- ABCA4-RELATED CONDITIONS (ABCA4) negative
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- ABETALIPOPROTEINEMIA (MTTP) negative
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- ACHONDROGENESIS, TYPE 1B (SLC26A2) negative
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- ACHROMATOPSIA, CNGB3-RELATED (CNGB3) negative
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- ACRODERMATITIS ENTEROPATHICA (SLC39A4) negative
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- ACTION MYOCLONUS-RENAL FAILURE (AMRF) SYNDROME (SCARB2) negative
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- ACUTE INFANTILE LIVER FAILURE, TRMU-RELATED (TRMU) negative
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- ACYL-COA OXIDASE I DEFICIENCY (ACOX1) negative
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- AICARDI-GOUTIERES SYNDROME (SAMHD1) negative
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- AICARDI-GOUTIERES SYNDROME, RNASEH2A-RELATED (RNASEH2A) negative
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- AICARDI-GOUTIERES SYNDROME, RNASEH2B-RELATED (RNASEH2B) negative
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- AICARDI-GOUTIERES SYNDROME, RNASEH2C-RELATED (RNASEH2C) negative
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- AICARDI-GOUTIERES SYNDROME, TREX1-RELATED (TREX1) negative
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- ALKAPTONURIA (HGD) negative
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- ALPHA-1 ANTITRYPSIN DEFICIENCY (SERPINA1) negative
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- ALPHA-MANNOSIDOSIS (MAN2B1) negative
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- ALPHA-THALASSEMIA (HBA1/HBA2) negative
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- ALPORT SYNDROME, COL4A3-RELATED (COL4A3) negative
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- ALPORT SYNDROME, COL4A4-RELATED (COL4A4) negative
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- ALSTROM SYNDROME (ALMS1) negative
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- AMISH INFANTILE EPILEPSY SYNDROME (ST3GAL5) negative
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- ANDERMANN SYNDROME (SLC12A6) negative
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- ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY (AGAT DEFICIENCY) (GATM) negative
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- ARGININEMIA (ARG1) negative
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- ARGININOSUCCINATE LYASE DEFICIENCY (ASL) negative
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- AROMATASE DEFICIENCY (CYP19A1) negative
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- ASPARAGINE SYNTHETASE DEFICIENCY (ASNS) negative
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- ASPARTYLGLYCOSAMINURIA (AGA) negative
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- ATAXIA WITH VITAMIN E DEFICIENCY (TTPA) negative
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- ATAXIA-TELANGIECTASIA (ATM) negative
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- ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 (MRE11) negative
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- ATRANSFERRINEMIA (TF) negative
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- AUTISM SPECTRUM, EPILEPSY AND ARTHROGRYPOSIS (SLC35A3) negative
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- AUTOIMMUNE POLYGLANDULAR SYNDROME, TYPE 1 (AIRE) negative
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- AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS (ARCI), SLC27A4-RELATED (SLC27A4) negative
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- AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY (SACS) negative
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### B
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- BARDET-BIEDL SYNDROME, ARL6-RELATED (ARL6) negative
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- BARDET-BIEDL SYNDROME, BBS10-RELATED (BBS10) negative
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- BARDET-BIEDL SYNDROME, BBS12-RELATED (BBS12) negative
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- BARDET-BIEDL SYNDROME, BBS1-RELATED (BBS1) negative
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- BARDET-BIEDL SYNDROME, BBS2-RELATED (BBS2) negative
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- BARDET-BIEDL SYNDROME, BBS4-RELATED (BBS4) negative
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- BARDET-BIEDL SYNDROME, BBS5-RELATED (BBS5) negative
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- BARDET-BIEDL SYNDROME, BBS7-RELATED (BBS7) negative
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- BARDET-BIEDL SYNDROME, BBS9-RELATED (BBS9) negative
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- BARDET-BIEDL SYNDROME, TTC8-RELATED (TTC8) negative
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- BARE LYMPHOCYTE SYNDROME, CIITA-RELATED (CIITA) negative
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- BARTTER SYNDROME, BSND-RELATED (BSND) negative
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- BARTTER SYNDROME, KCNJ1-RELATED (KCNJ1) negative
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- BARTTER SYNDROME, SLC12A1-RELATED (SLC12A1) negative
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- BATTEN DISEASE, CLN3-RELATED (CLN3) negative
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- BERNARD-SOULIER SYNDROME, TYPE A1 (GP1BA) negative
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- BERNARD-SOULIER SYNDROME, TYPE C (GP9) negative
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- BETA-HEMOGLOBINOPATHIES (HBB) negative
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- BETA-KETOTHIOLASE DEFICIENCY (ACAT1) negative
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- BETA-MANNOSIDOSIS (MANBA) negative
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- BETA-UREIDOPROPIONASE DEFICIENCY (UPB1) negative
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- BILATERAL FRONTOPARIETAL POLYMICROGYRIA (GPR56) negative
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- BIOTINIDASE DEFICIENCY (BTD) negative
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- BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE (BTBGD) (SLC19A3) negative
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- BLOOM SYNDROME (BLM) negative
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- BRITTLE CORNEA SYNDROME 1 (ZNF469) negative
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- BRITTLE CORNEA SYNDROME 2 (PRDM5) negative
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### C
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- CANAVAN DISEASE (ASPA) negative
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- CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY (CPS1) negative
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- CARNITINE DEFICIENCY (SLC22A5) negative
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- CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY (CPT1A) negative
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- CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY (CPT2) negative
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- CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (SLC25A20) negative
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- CARPENTER SYNDROME (RAB23) negative
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- CARTILAGE-HAIR HYPOPLASIA (RMRP) negative
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- CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA (CASQ2) negative
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- CD59-MEDIATED HEMOLYTIC ANEMIA (CD59) negative
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- CEP152-RELATED MICROCEPHALY (CEP152) negative
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- CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA (CEDNIK) SYNDROME (SNAP29) negative
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- CEREBROTENDINOUS XANTHOMATOSIS (CYP27A1) negative
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- CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C (PLEKHG5) negative
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- CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D (NDRG1) negative
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- CHEDIAK-HIGASHI SYNDROME (LYST) negative
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- CHOREOACANTHOCYTOSIS (VPS13A) negative
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- CHRONIC GRANULOMATOUS DISEASE, CYBA-RELATED (CYBA) negative
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- CHRONIC GRANULOMATOUS DISEASE, NCF2-RELATED (NCF2) negative
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- CILIOPATHIES, RPGRIP1L-RELATED (RPGRIP1L) negative
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- CITRIN DEFICIENCY (SLC25A13) negative
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- CITRULLINEMIA, TYPE 1 (ASS1) negative
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- CLN10 DISEASE (CTSD) negative
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- COHEN SYNDROME (VPS13B) negative
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- COL11A2-RELATED CONDITIONS (COL11A2) negative
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- COMBINED MALONIC AND METHYLMALONIC ACIDURIA (ACSF3) negative
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- COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (GFM1) negative
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- COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (TSFM) negative
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- COMBINED PITUITARY HORMONE DEFICIENCY 1 (POU1F1) negative
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- COMBINED PITUITARY HORMONE DEFICIENCY-2 (PROP1) negative
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- CONGENITAL ADRENAL HYPERPLASIA, 11-BETA-HYDROXYLASE DEFICIENCY (CYP11B1) negative
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- CONGENITAL ADRENAL HYPERPLASIA, 17-ALPHA-HYDROXYLASE DEFICIENCY (CYP17A1) negative
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- CONGENITAL ADRENAL HYPERPLASIA, 21-HYDROXYLASE DEFICIENCY (CYP21A2) negative
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- CONGENITAL ADRENAL INSUFFICIENCY, CYP11A1-RELATED (CYP11A1) negative
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- CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA (MPL) negative
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- CONGENITAL CHRONIC DIARRHEA (DGAT1) negative
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- CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1, ALG1-RELATED (ALG1) negative
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- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1A, PMM2-Related (PMM2) negative
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- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1B (MPI) negative
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- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1C (ALG6) negative
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- CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE 2 (SEC23B) negative
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- CONGENITAL FINNISH NEPHROSIS (NPHS1) negative
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- CONGENITAL HYDROCEPHALUS 1 (CCDC88C) negative
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- CONGENITAL HYPERINSULINISM, KCNJ11-Related (KCNJ11) negative
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- CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS (CIPA) (NTRK1) negative
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- CONGENITAL MYASTHENIC SYNDROME, CHAT-RELATED (CHAT) negative
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- CONGENITAL MYASTHENIC SYNDROME, CHRNE-RELATED (CHRNE) negative
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- CONGENITAL MYASTHENIC SYNDROME, COLQ-RELATED (COLQ) negative
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- CONGENITAL MYASTHENIC SYNDROME, DOK7-RELATED (DOK7) negative
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- CONGENITAL MYASTHENIC SYNDROME, RAPSN-RELATED (RAPSN) negative
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- CONGENITAL NEPHROTIC SYNDROME, PLCE1-RELATED (PLCE1) negative
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- CONGENITAL NEUTROPENIA, G6PC3-RELATED (G6PC3) negative
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- CONGENITAL NEUTROPENIA, HAX1-RELATED (HAX1) negative
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- CONGENITAL NEUTROPENIA, VPS45-RELATED (VPS45) negative
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- CONGENITAL SECRETORY CHLORIDE DIARRHEA 1 (SLC26A3) negative
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- CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS (SLC4A11) negative
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- CORTICOSTERONE METHYLOXIDASE DEFICIENCY (CYP11B2) negative
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- COSTEFF SYNDROME (3-METHYLGLUTACONIC ACIDURIA, TYPE 3) (OPA3) negative
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- CRB1-RELATED RETINAL DYSTROPHIES (CRB1) negative
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- CYSTIC FIBROSIS (CFTR) negative
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- CYSTINOSIS (CTNS) negative
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- CYTOCHROME C OXIDASE DEFICIENCY, PET100-RELATED (PET100) negative
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- CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY (POR) negative
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### D
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- D-BIFUNCTIONAL PROTEIN DEFICIENCY (HSD17B4) negative
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- DEAFNESS, AUTOSOMAL RECESSIVE 77 (LOXHD1) negative
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- DIHYDROPTERIDINE REDUCTASE (DHPR) DEFICIENCY (QDPR) negative
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- DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (DPYD) negative
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- DONNAI-BARROW SYNDROME (LRP2) negative
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- DUBIN-JOHNSON SYNDROME (ABCC2) negative
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- DYSKERATOSIS CONGENITA SPECTRUM DISORDERS (TERT) negative
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- DYSKERATOSIS CONGENITA, RTEL1-RELATED (RTEL1) negative
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- DYSTROPHIC EPIDERMOLYSIS BULLOSA, COL7A1-Related (COL7A1) negative
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### E
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- EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY, CAD-RELATED (CAD) negative
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- EHLERS-DANLOS SYNDROME TYPE VI (PLOD1) negative
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- EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, TNXB-RELATED (TNXB) negative
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- EHLERS-DANLOS SYNDROME, TYPE VII C (ADAMTS2) negative
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- ELLIS-VAN CREVELD SYNDROME, EVC2-RELATED (EVC2) negative
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- ELLIS-VAN CREVELD SYNDROME, EVC-RELATED (EVC) negative
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- ENHANCED S-CONE SYNDROME (NR2E3) negative
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- EPIMERASE DEFICIENCY (GALACTOSEMIA TYPE III) (GALE) negative
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- EPIPHYSEAL DYSPLASIA, MULTIPLE, 7/DESBUQUOIS DYSPLASIA 1 (CANT1) negative
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- ERCC6-RELATED DISORDERS (ERCC6) negative
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- ERCC8-RELATED DISORDERS (ERCC8) negative
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- ETHYLMALONIC ENCEPHALOPATHY (ETHE1) negative
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### F
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- F2-RELATED CONDITIONS (F2) negative
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- F5-RELATED CONDITIONS (F5) negative
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- FACTOR XI DEFICIENCY (F11) negative
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- FAMILIAL DYSAUTONOMIA (IKBKAP) negative
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- FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, PRF1-RELATED (PRF1) negative
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- FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, STX11-RELATED (STX11) negative
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- FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, STXBP2-RELATED (STXBP2) negative
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- FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, UNC13D-RELATED (UNC13D) negative
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- FAMILIAL HYPERCHOLESTEROLEMIA, LDLRAP1-RELATED (LDLRAP1) negative
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- FAMILIAL HYPERCHOLESTEROLEMIA, LDLR-RELATED (LDLR) negative
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- FAMILIAL HYPERINSULINISM, ABCC8-RELATED (ABCC8) negative
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- FAMILIAL MEDITERRANEAN FEVER (MEFV) negative
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- FAMILIAL NEPHROGENIC DIABETES INSIPIDUS, AQP2-RELATED (AQP2) negative
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- FANCONI ANEMIA, GROUP A (FANCA) negative
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- FANCONI ANEMIA, GROUP C (FANCC) negative
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- FANCONI ANEMIA, GROUP D2 (FANCD2) negative
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- FANCONI ANEMIA, GROUP E (FANCE) negative
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- FANCONI ANEMIA, GROUP F (FANCF) negative
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- FANCONI ANEMIA, GROUP G (FANCG) negative
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- FANCONI ANEMIA, GROUP I (FANCI) negative
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- FANCONI ANEMIA, GROUP J (BRIP1) negative
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- FANCONI ANEMIA, GROUP L (FANCL) negative
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- FARBER LIPOGRANULOMATOSIS (ASAH1) negative
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- FOVEAL HYPOPLASIA (SLC38A8) negative
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- FRASER SYNDROME 1, GRIP1-RELATED (GRIP1) negative
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- FRASER SYNDROME, FRAS1-RELATED (FRAS1) negative
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- FRASER SYNDROME, FREM2-RELATED (FREM2) negative
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- FRIEDREICH ATAXIA (FXN) negative
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- FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY (FBP1) negative
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- FUCOSIDOSIS, FUCA1-RELATED (FUCA1) negative
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- FUMARASE DEFICIENCY (FH) negative
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### G
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- GABA-TRANSAMINASE DEFICIENCY (ABAT) negative
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- GALACTOKINASE DEFICIENCY (GALACTOSEMIA, TYPE II) (GALK1) negative
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- GALACTOSEMIA (GALT) negative
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- GALACTOSIALIDOSIS (CTSA) negative
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- GAUCHER DISEASE (GBA) negative
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- GCH1-RELATED CONDITIONS (GCH1) negative
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- GDF5-RELATED CONDITIONS (GDF5) negative
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- GERODERMA OSTEODYSPLASTICA (GORAB) negative
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- GITELMAN SYNDROME (SLC12A3) negative
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- GLANZMANN THROMBASTHENIA (ITGB3) negative
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- GLUTARIC ACIDEMIA, TYPE 1 (GCDH) negative
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- GLUTARIC ACIDEMIA, TYPE 2A (ETFA) negative
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- GLUTARIC ACIDEMIA, TYPE 2B (ETFB) negative
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- GLUTARIC ACIDEMIA, TYPE 2C (ETFDH) negative
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- GLUTATHIONE SYNTHETASE DEFICIENCY (GSS) negative
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- GLYCINE ENCEPHALOPATHY, AMT-RELATED (AMT) negative
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- GLYCINE ENCEPHALOPATHY, GLDC-RELATED (GLDC) negative
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- GLYCOGEN STORAGE DISEASE TYPE 5 (McArdle Disease) (PYGM) negative
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- GLYCOGEN STORAGE DISEASE TYPE IXB (PHKB) negative
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- GLYCOGEN STORAGE DISEASE TYPE IXC (PHKG2) negative
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- GLYCOGEN STORAGE DISEASE, TYPE 1a (G6PC) negative
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- GLYCOGEN STORAGE DISEASE, TYPE 1b (SLC37A4) negative
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- GLYCOGEN STORAGE DISEASE, TYPE 2 (POMPE DISEASE) (GAA) **see first page**
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- GLYCOGEN STORAGE DISEASE, TYPE 3 (AGL) negative
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- GLYCOGEN STORAGE DISEASE, TYPE 4 (GBE1) negative
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- GLYCOGEN STORAGE DISEASE, TYPE 7 (PFKM) negative
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- GRACILE SYNDROME (BCS1L) negative
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- GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY (GAMT) negative
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### H
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|
- 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)
|