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Quest Diagnostics Nichols Institute San Juan Capistrano

General information

Quest Diagnostics Nichols Institute San Juan Capistrano

33608 Ortega Highway
San Juan Capistrano
California
United States - 92675-2042
http://www.questdiagnostics.com/
Organization ID: 500110

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 15101

Gene

GeneSubmissionsLast Updated
ABL11Aug 16, 2018
ACADM23Dec 31, 2020
ADAMTS171Aug 16, 2018
ADAMTS31Jul 31, 2020
ADCY21Aug 16, 2018
ADGRL31Jul 31, 2020
ADGRV13Jul 31, 2020
AFAP11Aug 28, 2019
AFF21Aug 16, 2018
AFF31Aug 28, 2019
AGAP13Jul 31, 2020
AGBL11Jul 31, 2020
AGBL48Jul 31, 2020
AGMO3Jul 31, 2020
AHI11Aug 28, 2019
ALK1Aug 28, 2019
ANK21Aug 16, 2018
ANKRD114Jul 31, 2020
ANKS1B5Jul 31, 2020
ANO101Aug 28, 2019
ANO31Jul 31, 2020
APC341Dec 31, 2020
APOB82Dec 31, 2020
APOB3'MAR1Dec 31, 2020
APP1Jul 31, 2020
ARFGEF11Aug 16, 2018
ARHGAP101Aug 16, 2018
ARHGAP421Aug 16, 2018
ARHGEF281Aug 28, 2019
ARID1B3Jul 31, 2020
ASCC31Aug 28, 2019
ASS11May 27, 2014
ASTN220Jul 31, 2020
ATP13A41Aug 16, 2018
ATP8A21Aug 16, 2018
ATP9B1Jul 31, 2020
ATRNL13Aug 16, 2018
ATXN11Aug 28, 2019
AUH1May 27, 2014
AUTS217Jul 31, 2020
BABAM21Jul 31, 2020
BARD1110Dec 31, 2020
BBS21May 27, 2014
BBS93Jul 31, 2020
BCAS32Aug 28, 2019
BMPR1A61Dec 31, 2020
BMPR1B1Aug 28, 2019
BRCA1877Dec 31, 2020
BRCA21482Dec 31, 2020
BRINP33Jul 31, 2020
BRIP1143Dec 31, 2020
BTBD91Aug 16, 2018
BTD38Dec 31, 2020
CA101Aug 16, 2018
CACNA1C3Jul 31, 2020
CACNA2D13Aug 28, 2019
CACNA2D34Jul 31, 2020
CADM11Aug 16, 2018
CADM22Jul 31, 2020
CADPS22Jul 31, 2020
CALN12Jul 31, 2020
CAMK2D1Aug 28, 2019
CAMK41Aug 28, 2019
CAMTA12Aug 28, 2019
CCBE11Aug 28, 2019
CCDC102B1Aug 28, 2019
CCDC1411Aug 28, 2019
CCDC1481Aug 28, 2019
CCDC1701Jul 31, 2020
CCDC72Aug 28, 2019
CCNY1Aug 28, 2019
CDH1153Dec 31, 2020
CDH121Aug 28, 2019
CDH231Aug 16, 2018
CDH41Aug 28, 2019
CDK141Aug 16, 2018
CDK430Dec 31, 2020
CDKAL17Jul 31, 2020
CDKN2A40Dec 31, 2020
CENPP2Jul 31, 2020
CEP1281Jul 31, 2020
CEP85L1Jul 31, 2020
CERS31Jul 31, 2020
CFAP20DC1Jul 31, 2020
CFTR224Dec 31, 2020
CFTR-AS132Dec 31, 2020
CHD61Jul 31, 2020
CHEK2109Dec 31, 2020
CHL13Aug 28, 2019
CHRM31Aug 28, 2019
CHST111Jul 31, 2020
CLEC16A1Aug 28, 2019
CLTCL11Aug 16, 2018
CMIP1Aug 28, 2019
CNBD11Jul 31, 2020
CNTLN1Aug 28, 2019
CNTN420Jul 31, 2020
CNTN53Jul 31, 2020
CNTN64Jul 31, 2020
CNTNAP211Jul 31, 2020
CNTNAP51Aug 16, 2018
COBL1Aug 16, 2018
COL19A13Jul 31, 2020
COL24A11Jul 31, 2020
COL25A11Jul 31, 2020
COL4A51Jul 31, 2020
COLGALT21Aug 28, 2019
CORIN1Aug 16, 2018
COX101Aug 16, 2018
CPA61Aug 16, 2018
CPQ1Aug 28, 2019
CREBBP1Jul 31, 2020
CRPPA1Aug 16, 2018
CSMD19Jul 31, 2020
CSMD36Jul 31, 2020
CTNNA21Aug 28, 2019
CTNNA35Aug 28, 2019
CTNND25Jul 31, 2020
CUX12Jul 31, 2020
DACH21Aug 16, 2018
DENND4C2Jul 31, 2020
DGKB2Jul 31, 2020
DIAPH22Aug 28, 2019
DIAPH33Aug 28, 2019
DISC14Aug 28, 2019
DLG26Jul 31, 2020
DLGAP11Aug 16, 2018
DMD27Jul 31, 2020
DNAH141Jul 31, 2020
DNER1Aug 28, 2019
DOCK12Aug 28, 2019
DOCK31Aug 28, 2019
DOCK86Aug 28, 2019
DOK51Jul 31, 2020
DPYD4Jul 31, 2020
DTNBP11Aug 28, 2019
DYM2Aug 16, 2018
DYNC2H11Aug 16, 2018
EFCAB51Jul 31, 2020
EHMT12Jul 31, 2020
ELP31Aug 16, 2018
EML61Aug 16, 2018
ENOX11Aug 28, 2019
ENPP61Jul 31, 2020
ENTPD11Aug 16, 2018
EPB41L4A1Aug 28, 2019
EPHA61Aug 28, 2019
EPS81Aug 16, 2018
ERBB44Jul 31, 2020
ERC12Aug 28, 2019
ERC21Aug 28, 2019
ESR21Aug 16, 2018
EVC21Jul 31, 2020
EXOC45Jul 31, 2020
EXOC6B2Aug 16, 2018
EYA41Aug 16, 2018
EYS15Jul 31, 2020
FAF13Jul 31, 2020
FAM13A1Aug 16, 2018
FAM155A1Aug 16, 2018
FAM160A11Aug 16, 2018
FAM172A1Jul 31, 2020
FAM189A11Jul 31, 2020
FARS27Jul 31, 2020
FBXL171Jul 31, 2020
FBXO111Aug 1, 2017
FER1Jul 31, 2020
FER1L61Aug 16, 2018
FGF121Aug 16, 2018
FGF131Aug 28, 2019
FGF141Jul 31, 2020
FGGY3Jul 31, 2020
FHIT4Jul 31, 2020
FKTN1Aug 16, 2018
FOCAD2Aug 28, 2019
FOXP12Aug 28, 2019
FRAS11Aug 28, 2019
FREM11Aug 16, 2018
FSTL51Aug 16, 2018
FTO1Aug 16, 2018
GABBR21Aug 16, 2018
GALK21Jul 31, 2020
GALNT131Aug 28, 2019
GALNT71Aug 16, 2018
GALNTL63Jul 31, 2020
GBE12Jul 31, 2020
GHR2Jul 31, 2020
GLDC2Aug 28, 2019
GLI21Aug 16, 2018
GLI31Aug 16, 2018
GMDS2Aug 28, 2019
GPC55Jul 31, 2020
GPC64Jul 31, 2020
GPHN4Jul 31, 2020
GPM6A1Aug 16, 2018
GPR75-ASB31Jul 31, 2020
GRID12Jul 31, 2020
GRID22Aug 28, 2019
GRIN2A2Aug 28, 2019
GRIN2B1Jul 31, 2020
GRIP11Aug 16, 2018
GRM72Jul 31, 2020
GRM81Aug 16, 2018
HACL11Aug 1, 2017
HBA138Dec 31, 2020
HBA265Dec 31, 2020
HBB186Dec 31, 2020
HCN11Jul 31, 2020
HDAC41Aug 28, 2019
HDAC91Aug 16, 2018
HEXA3Oct 16, 2019
HMGCLL11Jul 31, 2020
HPSE21Aug 28, 2019
HYDIN1Aug 16, 2018
IGF1R1Aug 28, 2019
IL1RAPL110Jul 31, 2020
IL1RAPL23Jul 31, 2020
IMMP2L1Aug 28, 2019
INVS2Jul 31, 2020
IQCA11Aug 28, 2019
IQCJ-SCHIP11Aug 28, 2019
IQGAP21Jul 31, 2020
ITPR21Aug 16, 2018
JARID23Aug 28, 2019
JAZF11Aug 16, 2018
JMJD1C1Aug 28, 2019
KALRN1Jul 31, 2020
KANK15Jul 31, 2020
KATNIP1Aug 28, 2019
KCNH12Jul 31, 2020
KCNIP11Aug 16, 2018
KCNMA12Jul 31, 2020
KCNQ11Jul 31, 2020
KCNQ51Aug 28, 2019
KDM4C2Jul 31, 2020
KDM6A1Aug 16, 2018
KIAA13284Jul 31, 2020
KIF26B2Jul 31, 2020
KLLN22Dec 31, 2020
KNTC11Jul 31, 2020
LAMA23Jul 31, 2020
LAMC31Aug 28, 2019
LARGE17Jul 31, 2020
LCLAT11Jul 31, 2020
LDB21Aug 16, 2018
LDLR42Mar 6, 2020
LINGO27Jul 31, 2020
LOC106099062129Dec 31, 2020
LOC1065602112Oct 16, 2019
LOC1067217853Aug 1, 2017
LOC10680461265Dec 31, 2020
LOC10680461338Dec 31, 2020
LOC107133510186Dec 31, 2020
LOC11000631963Dec 31, 2020
LOC1115892153Oct 16, 2019
LOC1116744636Dec 31, 2020
LOC11167447222Dec 31, 2020
LOC11167447511Dec 31, 2020
LOC1116744777Dec 31, 2020
LOC1136338772Mar 6, 2020
LOC1136641061Aug 31, 2018
LPP2Jul 31, 2020
LRBA1Aug 16, 2018
LRCH31Jul 31, 2020
LRFN52Aug 28, 2019
LRGUK1Aug 16, 2018
LRP1B5Jul 31, 2020
LRRC4C3Jul 31, 2020
LTBP11Aug 28, 2019
LUZP11Jul 31, 2020
MACROD24Jul 31, 2020
MAD1L11Aug 28, 2019
MAGI11Aug 16, 2018
MAGI21Jul 31, 2020
MAP41Aug 16, 2018
MAP4K31Aug 16, 2018
MARCHF13Jul 31, 2020
MAST41Aug 16, 2018
MBD510Jul 31, 2020
MCC2Aug 28, 2019
MCPH13Aug 28, 2019
MCTP21Aug 28, 2019
MDGA22Jul 31, 2020
MED12L1Jul 31, 2020
MED13L5Aug 28, 2019
MEF2C1Jul 31, 2020
MEFV7Mar 6, 2020
MELK1Jul 31, 2020
METTL151Aug 16, 2018
MGAT4C1Jul 31, 2020
MGMT2Aug 28, 2019
MICU12Jul 31, 2020
MID12Jul 31, 2020
MITF1Aug 28, 2019
MLH1177Dec 31, 2020
MMP161Jul 31, 2020
MSH2211Dec 31, 2020
MSH31Aug 28, 2019
MSH6329Dec 31, 2020
MSRA2Aug 28, 2019
MUTYH117Dec 31, 2020
MYO1D1Aug 16, 2018
MYO3A1Aug 28, 2019
MYO3B1Aug 16, 2018
MYO5A1Aug 28, 2019
MYT1L2Jul 31, 2020
NAALADL23Jul 31, 2020
NALCN1Aug 16, 2018
NBAS5Aug 28, 2019
NBN97Dec 31, 2020
NCKAP54Jul 31, 2020
NEBL1Aug 16, 2018
NEGR12Jul 31, 2020
NEK111Jul 31, 2020
NELL21Aug 16, 2018
NKAIN22Jul 31, 2020
NLGN4X2Aug 28, 2019
NME71Aug 28, 2019
NOS1AP1Aug 28, 2019
NOTCH21Aug 28, 2019
NPAS31Jul 31, 2020
NR3C21Jul 31, 2020
NRCAM1Jul 31, 2020
NRG32Jul 31, 2020
NRXN125Jul 31, 2020
NSD21Aug 28, 2019
NSMCE21Aug 28, 2019
NUDCD11Aug 28, 2019
NXPH11Aug 16, 2018
OCA22Jul 31, 2020
OPCML1Aug 16, 2018
OSGIN21Oct 16, 2019
PACRG1Jul 31, 2020
PACSIN21Aug 16, 2018
PAH44Dec 31, 2020
PALB2171Dec 31, 2020
PARD34Jul 31, 2020
PARVB1Aug 16, 2018
PATJ1Aug 28, 2019
PCCA4Jul 31, 2020
PCDH11X2Aug 16, 2018
PCDH153Aug 16, 2018
PCDH92Aug 16, 2018
PCLO1Aug 28, 2019
PCSK918Mar 6, 2020
PDE11A1Jul 31, 2020
PDE4D5Jul 31, 2020
PHACTR21Jul 31, 2020
PI4KA1Jul 31, 2020
PIBF11Jul 31, 2020
PIGN1Jul 31, 2020
PIK3C2G2Jul 31, 2020
PKD1L11Aug 28, 2019
PKHD11Aug 16, 2018
PLA2R11Aug 28, 2019
PLCB12Jul 31, 2020
PLEKHA71Jul 31, 2020
PMS2180Dec 31, 2020
POLD1266Dec 31, 2020
POLE414Dec 31, 2020
PPFIBP21Jul 31, 2020
PPM1L1Aug 16, 2018
PPP1R1C1Aug 28, 2019
PPP2R2C1Aug 16, 2018
PRKAG21Aug 16, 2018
PRKCA1Jul 31, 2020
PRKG11Jul 31, 2020
PRKN23Jul 31, 2020
PSD34Jul 31, 2020
PTEN67Dec 31, 2020
PTGER31Aug 28, 2019
PTPN41Aug 16, 2018
PTPRD7Jul 31, 2020
PTPRM2Aug 28, 2019
PTPRN25Aug 28, 2019
PTPRT4Jul 31, 2020
PXDNL1Jul 31, 2020
RABGAP1L1Aug 16, 2018
RAD51C54Dec 31, 2020
RAD51D56Dec 31, 2020
RAD51L3-RFFL56Dec 31, 2020
RASGRF21Aug 28, 2019
RBFOX116Jul 31, 2020
RERE1Aug 28, 2019
RFC31Aug 16, 2018
RFXAP1May 27, 2014
RGL11Aug 16, 2018
RGS221Jul 31, 2020
RHBDD13Aug 28, 2019
RIMS21Aug 16, 2018
RPGRIP1L1Aug 28, 2019
RPS6KA21Aug 28, 2019
RREB11Aug 28, 2019
RSRC12Aug 16, 2018
RUFY31Aug 16, 2018
RYR24Jul 31, 2020
RYR31Jul 31, 2020
SATB21Jul 31, 2020
SBF21Jul 31, 2020
SCAPER1Aug 28, 2019
SCFD11Aug 16, 2018
SCFD22Aug 28, 2019
SDCCAG81Aug 16, 2018
SDHC20Dec 31, 2020
SDHD18Dec 31, 2020
SDK16Jul 31, 2020
SEL1L21Jul 31, 2020
SEMA3A1Jul 31, 2020
SEMA3E1Aug 28, 2019
SEMA6A1Jul 31, 2020
SERGEF1Aug 28, 2019
SGCZ2Aug 28, 2019
SH3PXD2A1Aug 28, 2019
SHANK22Aug 16, 2018
SHOC11Aug 16, 2018
SLC20A21Aug 16, 2018
SLC24A21Aug 16, 2018
SLC2A131Aug 28, 2019
SLC30A81Aug 28, 2019
SLC44A51Aug 28, 2019
SMAD446Dec 31, 2020
SMAD91May 27, 2014
SMARCA21Aug 16, 2018
SMARCAL11Aug 28, 2019
SMYD33Jul 31, 2020
SNCAIP1Aug 28, 2019
SND11Aug 28, 2019
SNTG11Aug 28, 2019
SNTG21Jul 31, 2020
SNX294Jul 31, 2020
SOX54Aug 28, 2019
SP41Aug 28, 2019
SPAG164Jul 31, 2020
SPATA53Aug 28, 2019
SPATA61Aug 28, 2019
SPIRE11Aug 28, 2019
SPOCK11Aug 28, 2019
SRBD11Jul 31, 2020
STAG11Aug 16, 2018
STK11102Dec 31, 2020
STK32B2Aug 16, 2018
STON1-GTF2A1L1Aug 28, 2019
STPG21Aug 28, 2019
STS1Aug 16, 2018
STX81Aug 16, 2018
STXBP5L1Aug 28, 2019
SUGCT8Jul 31, 2020
SUPT3H3Jul 31, 2020
SUSD41Aug 28, 2019
SYNE11Aug 28, 2019
SYT11Aug 28, 2019
SYT91Jul 31, 2020
TBC1D22A1Aug 16, 2018
TBC1D321Jul 31, 2020
TBC1D51Aug 16, 2018
TBCD1Aug 16, 2018
TBCK1Aug 28, 2019
TBL1XR11Aug 16, 2018
TCF44Aug 28, 2019
TEK1Aug 28, 2019
TENM31Aug 16, 2018
TENM43Jul 31, 2020
TESK21Aug 16, 2018
TEX141Aug 16, 2018
THADA2Jul 31, 2020
THRB34Dec 31, 2020
THSD7A1Aug 28, 2019
TIAM12Jul 31, 2020
TMC21Jul 31, 2020
TMEM1171Aug 28, 2019
TMEM1351Aug 28, 2019
TMEM2411Jul 31, 2020
TMEM2601Aug 16, 2018
TMLHE3Jul 31, 2020
TMTC11Aug 16, 2018
TMTC21Jul 31, 2020
TOE14Dec 31, 2020
TP5372Dec 31, 2020
TRAPPC94Jul 31, 2020
TRPM11Aug 28, 2019
TRPM31Aug 16, 2018
TRPS11Aug 28, 2019
TSPAN3115Mar 6, 2020
TTC231Aug 16, 2018
TTC281Aug 16, 2018
TTLL111Jul 31, 2020
TUSC31Aug 28, 2019
UBE3A1Aug 28, 2019
UGT1A81Aug 16, 2018
ULK41Jul 31, 2020
UNC13C1Aug 28, 2019
USH2A4Jul 31, 2020
VAT1L1Aug 16, 2018
VEPH11Aug 28, 2019
VIT1Aug 16, 2018
VPS13B4Jul 31, 2020
VPS13D1Jul 31, 2020
VWC2L1Aug 16, 2018
VWF168Dec 31, 2020
WDFY21Aug 28, 2019
WDHD11Aug 28, 2019
WDR271Aug 28, 2019
WDR701Aug 16, 2018
WDR721Jul 31, 2020
WWOX7Jul 31, 2020
XRCC43Jul 31, 2020
YWHAE1Aug 28, 2019
ZEB11Aug 16, 2018
ZFHX31Aug 28, 2019
ZMAT41Aug 16, 2018
ZNF832Jul 31, 2020
ZNRF31Jul 31, 2020
ZRANB33Jul 31, 2020

Condition

NameSubmissionsLast Updated
3-Methylglutaconic aciduria type 11May 27, 2014
Bardet-Biedl syndrome 21May 27, 2014
Bare lymphocyte syndrome 21May 27, 2014
Breast-ovarian cancer, familial 1116Jul 18, 2016
Breast-ovarian cancer, familial 2146Jul 18, 2016
Citrullinemia type I1May 27, 2014
Laron-type isolated somatotropin defect1May 27, 2014
Primary autosomal recessive microcephaly 11May 27, 2014
not provided13400Dec 31, 2020
not specified1433Dec 31, 2020

Testing in GTR

Disease nameNumber of tests
11q partial monosomy syndrome1 test
2-aminoadipic 2-oxoadipic aciduria3 tests
3-Hydroxyisobutyric aciduria1 test
3-MCC Deficiency3 tests
3-Methylglutaconic aciduria type 13 tests
46,XX testicular disorder of sex development1 test
4p partial monosomy syndrome2 tests
5-Oxoprolinase deficiency1 test
5p partial monosomy syndrome2 tests
Achondroplasia2 tests
Acute intermittent porphyria2 tests
Adrenoleukodystrophy1 test
Advanced maternal age gravida5 tests
Alkaptonuria1 test
Alpha-1-antitrypsin deficiency2 tests
Alpha-methylacyl-CoA racemase deficiency1 test
Angelman syndrome3 tests
Arginase deficiency2 tests
Argininosuccinate lyase deficiency4 tests
Atrial fibrillation1 test
Autism spectrum disorder7 tests
BAP1 tumor predisposition syndrome1 test
Beta-hydroxyisobutyryl-CoA deacylase deficiency2 tests
Biotinidase deficiency5 tests
Bloom syndrome1 test
Breast cancer, susceptibility to6 tests
Breast neoplasm1 test
Breast-ovarian cancer, familial 33 tests
Breast-ovarian cancer, familial 43 tests
Bronchiectasis1 test
CYP2C19-related poor drug metabolism3 tests
Carnitine acylcarnitine translocase deficiency2 tests
Carnitine palmitoyltransferase 1A deficiency3 tests
Carnitine palmitoyltransferase II deficiency2 tests
Cholesteryl ester storage disease1 test
Chromosome 1p36 deletion syndrome1 test
Citrullinemia type I5 tests
Citrullinemia type II4 tests
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2 tests
Cobalamin deficiency2 tests
Cognitive impairment7 tests
Colorectal cancer 104 tests
Combined d-2- and l-2-hydroxyglutaric aciduria1 test
Complete trisomy 13 syndrome1 test
Complete trisomy 18 syndrome1 test
Complete trisomy 21 syndrome1 test
Congenital anomalies5 tests
Congenital chromosomal disease2 tests
Congenital erythropoietic porphyria3 tests
Congenital hyperammonemia, type I2 tests
Congenital plasminogen activator inhibitor type 1 deficiency1 test
Coronary artery disease2 tests
Coronary artery disease, susceptibility to2 tests
Cowden syndrome1 test
Cowden syndrome 15 tests
Cutaneous malignant melanoma 23 tests
Cystic fibrosis10 tests
Cystinuria2 tests
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome1 test
Deficiency of 2-methylbutyryl-CoA dehydrogenase3 tests
Deficiency of 3-hydroxyacyl-CoA dehydrogenase2 tests
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase2 tests
Deficiency of acetyl-CoA acetyltransferase3 tests
Deficiency of butyryl-CoA dehydrogenase3 tests
Deficiency of glycerol kinase1 test
Deficiency of hydroxymethylglutaryl-CoA lyase3 tests
Deficiency of isobutyryl-CoA dehydrogenase3 tests
Deficiency of malonyl-CoA decarboxylase3 tests
Deficiency of phosphoserine phosphatase2 tests
DiGeorge sequence2 tests
Dihydropyrimidine dehydrogenase deficiency3 tests
Disorder due cytochrome p450 CYP2D6 variant3 tests
Disorder of cardiovascular system1 test
Disorder of organic acid metabolism1 test
Disorder of the urea cycle metabolism1 test
Double Y syndrome1 test
Dysmorphic features7 tests
EGFR-related lung cancer1 test
Ethylmalonic encephalopathy3 tests
Familial Mediterranean fever2 tests
Familial adenomatous polyposis 11 test
Familial cancer of breast4 tests
Familial colorectal cancer4 tests
Familial dysautonomia1 test
Familial hypercholesterolemia2 tests
Familial hyperinsulinism1 test
Familial multiple polyposis syndrome5 tests
Familial prostate carcinoma2 tests
Fanconi anemia, complementation group C1 test
Fragile X syndrome1 test
Fragile X tremor/ataxia syndrome1 test
Fumarase deficiency1 test
Gaucher disease1 test
Gilbert's syndrome2 tests
Global developmental delay7 tests
Glutaric aciduria, type 13 tests
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1 test
Gorlin syndrome2 tests
HSD10 disease3 tests
HYDROPS FETALIS, ALPHA-THALASSEMIA-RELATED1 test
Hawkinsinuria1 test
Hb SS disease2 tests
Hepatitis C virus infection, response to therapy of1 test
Hereditary Paraganglioma-Pheochromocytoma Syndromes3 tests
Hereditary breast and ovarian cancer syndrome7 tests
Hereditary cancer-predisposing syndrome1 test
Hereditary coproporphyria4 tests
Hereditary diffuse gastric cancer7 tests
Hereditary disease4 tests
Hereditary factor VIII deficiency disease1 test
Hereditary factor XI deficiency disease1 test
Hereditary hearing loss and deafness1 test
Hereditary hemochromatosis1 test
Hereditary leiomyomatosis and renal cell cancer2 tests
Hereditary melanoma4 tests
Hereditary nonpolyposis colon cancer7 tests
Hereditary pancreatitis1 test
Hereditary thrombophilia1 test
Histidine transport defect4 tests
Holocarboxylase synthetase deficiency3 tests
Homocystinuria2 tests
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
Huntington disease2 tests
Hypercoagulability2 tests
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome2 tests
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)1 test
Iminoglycinuria2 tests
Infertility4 tests
Inherited renal cancer-predisposing syndrome1 test
Isovaleryl-CoA dehydrogenase deficiency3 tests
Joubert syndrome1 test
Joubert syndrome 21 test
Juvenile polyposis syndrome6 tests
Klinefelter's syndrome, XXY6 tests
Known OR suspected fetal abnormality affecting management of mother6 tests
Langer-Giedion syndrome1 test
Li-Fraumeni syndrome7 tests
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency3 tests
Lynch syndrome4 tests
Lysinuric protein intolerance2 tests
Lysosomal acid lipase deficiency1 test
MYH-associated polyposis6 tests
Maple syrup urine disease4 tests
Maple syrup urine disease, type 32 tests
Maternal care for suspected chromosomal abnormality in fetus6 tests
Medium-chain acyl-coenzyme A dehydrogenase deficiency6 tests
Methylmalonate semialdehyde dehydrogenase deficiency1 test
Methylmalonic acidemia5 tests
Mevalonic aciduria1 test
Microcephaly, normal intelligence and immunodeficiency4 tests
Miller Dieker syndrome1 test
Mitochondrial diseases4 tests
Mosaic sex chromosome aneuploidy2 tests
Mucolipidosis type IV1 test
Multiple acyl-CoA dehydrogenase deficiency3 tests
Multiple congenital anomalies10 tests
Multiple endocrine neoplasia, type 14 tests
Multiple endocrine neoplasia, type 24 tests
Multiple endocrine neoplasia, type 41 test
Multiple fibrofolliculomas1 test
Myocardial infarction3 tests
Neurofibromatosis, type 16 tests
Neutral 1 amino acid transport defect2 tests
Niemann-Pick disease, type A1 test
Niemann-Pick disease, type B1 test
Non-ketotic hyperglycinemia4 tests
Ornithine aminotransferase deficiency2 tests
Ornithine carbamoyltransferase deficiency3 tests
Oxoglutaricaciduria1 test
PTEN hamartoma tumor syndrome1 test
Pancreatic cancer 34 tests
Peroxisome biogenesis disorders, Zellweger syndrome spectrum1 test
Peutz-Jeghers syndrome7 tests
Phenylketonuria5 tests
Phosphoglycerate dehydrogenase deficiency2 tests
Phytanic acid storage disease1 test
Porphobilinogen synthase deficiency2 tests
Porphyria cutanea tarda3 tests
Prader-Willi syndrome3 tests
Primary hyperoxaluria, type I1 test
Primary hyperoxaluria, type II1 test
Propionic acidemia3 tests
Protoporphyria, erythropoietic, 12 tests
Protoporphyria, erythropoietic, X-linked2 tests
Pure gonadal dysgenesis 46,XY1 test
Pyruvate dehydrogenase complex deficiency1 test
Recurrent abortion6 tests
Renal carnitine transport defect3 tests
Rett syndrome2 tests
Rhabdoid tumor predisposition syndrome 21 test
Ribavirin response1 test
Sarcosine dehydrogenase deficiency2 tests
Shprintzen syndrome1 test
Sickle cell-hemoglobin C disease2 tests
Smith-Magenis syndrome1 test
Spermatogenic failure, Y-linked 21 test
Spinal muscular atrophy2 tests
Spongy degeneration of central nervous system2 tests
Spontaneous abortion4 tests
Statins, attenuated cholesterol lowering by1 test
Succinate-semialdehyde dehydrogenase deficiency1 test
Tay-Sachs disease2 tests
Thiopurine methyltransferase deficiency1 test
Thrombophilia due to activated protein C resistance1 test
Thyroid hormone resistance, generalized, autosomal dominant1 test
Trisomy X syndrome1 test
Tuberous sclerosis 11 test
Tuberous sclerosis 21 test
Tuberous sclerosis syndrome2 tests
Turner syndrome6 tests
Tyrosinemia type I3 tests
Tyrosinemia type II3 tests
Usher Syndrome, Type III1 test
Usher syndrome type 1F1 test
Variegate porphyria4 tests
Very long chain acyl-CoA dehydrogenase deficiency2 tests
Von Hippel-Lindau syndrome4 tests
Walker-Warburg Syndrome, Fktn-Related1 test
Warfarin response4 tests
Williams syndrome1 test
Wolman disease1 test
X-linked ichthyosis with steryl-sulfatase deficiency1 test
alpha Thalassemia7 tests
beta Thalassemia3 tests
von Willebrand disorder1 test
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