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lab-results medical Jiang, Erica (Xuewei) 2021-09-15 Candice B. Tilles, MD 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