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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: 16285

Gene

GeneSubmissionsLast Updated
A-GAMMA3'E1Dec 29, 2021
ABL11Aug 16, 2018
ACADM25Dec 29, 2021
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
AOPEP3Dec 29, 2021
APC480Dec 29, 2021
APOB138Dec 29, 2021
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
ATM25Dec 29, 2021
ATP13A41Aug 16, 2018
ATP8A21Aug 16, 2018
ATP9B1Jul 31, 2020
ATRNL13Aug 16, 2018
ATXN11Aug 28, 2019
AUH1May 27, 2014
AUTS217Jul 31, 2020
AXIN218Dec 29, 2021
BABAM21Jul 31, 2020
BAP110Dec 29, 2021
BARD1153Dec 29, 2021
BBS21May 27, 2014
BBS93Jul 31, 2020
BCAS32Aug 28, 2019
BLM17Dec 29, 2021
BMPR1A78Dec 29, 2021
BMPR1B1Aug 28, 2019
BRCA11121Dec 29, 2021
BRCA21973Dec 29, 2021
BRINP33Jul 31, 2020
BRIP1194Dec 29, 2021
BTBD91Aug 16, 2018
BTD52Dec 29, 2021
C11orf656Dec 29, 2021
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
CDH1210Dec 29, 2021
CDH121Aug 28, 2019
CDH231Aug 16, 2018
CDH41Aug 28, 2019
CDK141Aug 16, 2018
CDK437Dec 29, 2021
CDKAL17Jul 31, 2020
CDKN1B2Dec 29, 2021
CDKN2A55Dec 29, 2021
CENPP2Jul 31, 2020
CEP1281Jul 31, 2020
CEP85L1Jul 31, 2020
CERS31Jul 31, 2020
CFAP20DC1Jul 31, 2020
CFTR299Dec 29, 2021
CFTR-AS140Dec 29, 2021
CHD61Jul 31, 2020
CHEK2152Dec 29, 2021
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
CYP21A210Dec 29, 2021
DACH21Aug 16, 2018
DENND4C2Jul 31, 2020
DGKB2Jul 31, 2020
DHFR11Dec 29, 2021
DIAPH22Aug 28, 2019
DIAPH33Aug 28, 2019
DICER112Dec 29, 2021
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
EGFR2Dec 29, 2021
EGFR-AS11Dec 29, 2021
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
FAM172A1Jul 31, 2020
FAM189A11Jul 31, 2020
FANCA30Dec 29, 2021
FANCC8Dec 29, 2021
FANCM20Dec 29, 2021
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
FH4Dec 29, 2021
FHIP1A1Aug 16, 2018
FHIT4Jul 31, 2020
FKTN1Aug 16, 2018
FLCN4Dec 29, 2021
FOCAD2Aug 28, 2019
FOXP12Aug 28, 2019
FRAS11Aug 28, 2019
FREM11Aug 16, 2018
FSTL51Aug 16, 2018
FTO1Aug 16, 2018
GABBR21Aug 16, 2018
GALK21Jul 31, 2020
GALNT127Dec 29, 2021
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
HBA156Dec 29, 2021
HBA292Dec 29, 2021
HBB257Dec 29, 2021
HCN11Jul 31, 2020
HDAC41Aug 28, 2019
HDAC91Aug 16, 2018
HEXA6Dec 29, 2021
HMGCLL11Jul 31, 2020
HOXB134Dec 29, 2021
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
KLLN27Dec 29, 2021
KNTC11Jul 31, 2020
LAMA23Jul 31, 2020
LAMC31Aug 28, 2019
LARGE17Jul 31, 2020
LCLAT11Jul 31, 2020
LDB21Aug 16, 2018
LDLR95Dec 29, 2021
LDLR-AS15Dec 29, 2021
LINGO27Jul 31, 2020
LOC1005073465Dec 29, 2021
LOC106099062171Dec 29, 2021
LOC1065602114Dec 31, 2020
LOC1067217855Dec 31, 2020
LOC10678080010Dec 29, 2021
LOC10680461292Dec 29, 2021
LOC10680461356Dec 29, 2021
LOC107133510257Dec 29, 2021
LOC11000631992Dec 29, 2021
LOC1115892153Oct 16, 2019
LOC1116744638Dec 29, 2021
LOC11167447225Dec 29, 2021
LOC11167447511Dec 31, 2020
LOC1116744778Dec 29, 2021
LOC1124862231Dec 29, 2021
LOC1136338772Mar 6, 2020
LOC1136641063Dec 29, 2021
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
MECP23Dec 29, 2021
MED12L1Jul 31, 2020
MED13L5Aug 28, 2019
MEF2C1Jul 31, 2020
MEFV7Mar 6, 2020
MELK1Jul 31, 2020
MEN12Dec 31, 2020
METTL151Aug 16, 2018
MGAT4C1Jul 31, 2020
MGMT2Aug 28, 2019
MICU12Jul 31, 2020
MID12Jul 31, 2020
MITF1Aug 28, 2019
MLH1241Dec 29, 2021
MMP161Jul 31, 2020
MSH2300Dec 29, 2021
MSH324Dec 29, 2021
MSH6442Dec 29, 2021
MSRA2Aug 28, 2019
MUTYH146Dec 29, 2021
MYO1D1Aug 16, 2018
MYO3A1Aug 28, 2019
MYO3B1Aug 16, 2018
MYO5A1Aug 28, 2019
MYT1L2Jul 31, 2020
NAALADL23Jul 31, 2020
NALCN1Aug 16, 2018
NALF11Aug 16, 2018
NBAS5Aug 28, 2019
NBN136Dec 29, 2021
NCKAP54Jul 31, 2020
NEBL1Aug 16, 2018
NEGR12Jul 31, 2020
NEK111Jul 31, 2020
NELL21Aug 16, 2018
NF17Dec 29, 2021
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
NTHL17Dec 29, 2021
NUDCD11Aug 28, 2019
NXPH11Aug 16, 2018
OCA22Jul 31, 2020
OPCML1Aug 16, 2018
OSGIN21Oct 16, 2019
PACRG1Jul 31, 2020
PACSIN21Aug 16, 2018
PAH54Dec 29, 2021
PALB2247Dec 29, 2021
PARD34Jul 31, 2020
PARVB1Aug 16, 2018
PATJ1Aug 28, 2019
PCCA4Jul 31, 2020
PCDH11X2Aug 16, 2018
PCDH153Aug 16, 2018
PCDH92Aug 16, 2018
PCLO1Aug 28, 2019
PCSK933Dec 29, 2021
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
PMS2249Dec 29, 2021
POLD1300Dec 29, 2021
POLE475Dec 29, 2021
POT14Dec 29, 2021
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
PTCH125Dec 29, 2021
PTEN109Dec 29, 2021
PTGER31Aug 28, 2019
PTPN41Aug 16, 2018
PTPRD7Jul 31, 2020
PTPRM2Aug 28, 2019
PTPRN25Aug 28, 2019
PTPRT4Jul 31, 2020
PXDNL1Jul 31, 2020
RABGAP1L1Aug 16, 2018
RAD508Dec 29, 2021
RAD51C72Dec 29, 2021
RAD51D66Dec 29, 2021
RAD51L3-RFFL66Dec 29, 2021
RASGRF21Aug 28, 2019
RBFOX116Jul 31, 2020
RECQL5Dec 29, 2021
RERE1Aug 28, 2019
RET3Dec 29, 2021
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
SDHA11Dec 29, 2021
SDHAF22Dec 29, 2021
SDHC28Dec 29, 2021
SDHD25Dec 29, 2021
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
SMAD459Dec 29, 2021
SMAD91May 27, 2014
SMARCA21Aug 16, 2018
SMARCA421Dec 29, 2021
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
STK11143Dec 29, 2021
STK32B2Aug 16, 2018
STON1-GTF2A1L1Aug 28, 2019
STPG21Aug 28, 2019
STS1Aug 16, 2018
STX81Aug 16, 2018
STXBP5L1Aug 28, 2019
SUFU5Dec 29, 2021
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
TH2LCRR2Dec 29, 2021
THADA2Jul 31, 2020
THRB48Dec 29, 2021
THSD7A1Aug 28, 2019
TIAM12Jul 31, 2020
TMC21Jul 31, 2020
TMEM1171Aug 28, 2019
TMEM1272Dec 29, 2021
TMEM1351Aug 28, 2019
TMEM2411Jul 31, 2020
TMEM2601Aug 16, 2018
TMLHE3Jul 31, 2020
TMTC11Aug 16, 2018
TMTC21Jul 31, 2020
TNXB3Dec 29, 2021
TOE15Dec 29, 2021
TP53100Dec 29, 2021
TRAPPC94Jul 31, 2020
TRPM11Aug 28, 2019
TRPM31Aug 16, 2018
TRPS11Aug 28, 2019
TSPAN3119Dec 29, 2021
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
VWF231Dec 29, 2021
WDFY21Aug 28, 2019
WDHD11Aug 28, 2019
WDR271Aug 28, 2019
WDR701Aug 16, 2018
WDR721Jul 31, 2020
WWOX7Jul 31, 2020
XRCC22Dec 29, 2021
XRCC43Jul 31, 2020
YWHAE1Aug 28, 2019
ZEB11Aug 16, 2018
ZFHX31Aug 28, 2019
ZMAT41Aug 16, 2018
ZNF2765Dec 29, 2021
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 1107Jul 18, 2016
Breast-ovarian cancer, familial 2117Jul 18, 2016
Citrullinemia type I1May 27, 2014
Laron-type isolated somatotropin defect1May 27, 2014
Primary autosomal recessive microcephaly 11May 27, 2014
not provided14466Dec 29, 2021
not specified1589Dec 29, 2021

Testing in GTR

Disease nameNumber of tests
11q partial monosomy syndrome1 test
2-aminoadipic 2-oxoadipic aciduria2 tests
2-hydroxyglutaric aciduria1 test
3-Hydroxyisobutyric aciduria1 test
3-Methylglutaconic aciduria type 12 tests
3-methylcrotonyl-CoA carboxylase 1 deficiency2 tests
46,XX testicular disorder of sex development1 test
4p partial monosomy syndrome2 tests
5-Oxoprolinase deficiency1 test
5p partial monosomy syndrome2 tests
Achondroplasia1 test
Acute intermittent porphyria3 tests
Adrenoleukodystrophy1 test
Advanced maternal age gravida5 tests
Agenesis of cerebellar vermis1 test
Alkaptonuria1 test
Alpha-1-antitrypsin deficiency2 tests
Alpha-methylacyl-CoA racemase deficiency1 test
Angelman syndrome3 tests
Arginase deficiency1 test
Argininosuccinate lyase deficiency2 tests
Atrial fibrillation1 test
Autism spectrum disorder7 tests
BAP1 tumor predisposition syndrome2 tests
Beta-hydroxyisobutyryl-CoA deacylase deficiency1 test
Biotinidase deficiency4 tests
Bloom syndrome1 test
Breast and colorectal cancer, susceptibility to2 tests
Breast cancer, susceptibility to5 tests
Breast neoplasm1 test
Breast-ovarian cancer, familial 32 tests
Breast-ovarian cancer, familial 42 tests
Bronchiectasis1 test
CYP2C19-related poor drug metabolism2 tests
Carnitine acylcarnitine translocase deficiency1 test
Carnitine palmitoyltransferase 1A deficiency2 tests
Carnitine palmitoyltransferase II deficiency1 test
Cholesteryl ester storage disease1 test
Chromosome 1p36 deletion syndrome1 test
Citrullinemia3 tests
Citrullinemia type II2 tests
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2 tests
Cobalamin deficiency2 tests
Cognitive impairment7 tests
Colorectal cancer 103 tests
Complete trisomy 13 syndrome1 test
Complete trisomy 18 syndrome1 test
Complete trisomy 21 syndrome1 test
Congenital chromosomal disease2 tests
Congenital erythropoietic porphyria2 tests
Congenital hyperammonemia, type I1 test
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A41 test
Congenital plasminogen activator inhibitor type 1 deficiency1 test
Coronary artery atherosclerosis2 tests
Coronary artery disease, susceptibility to2 tests
Cowden syndrome1 test
Cowden syndrome 14 tests
Cutaneous malignant melanoma 22 tests
Cystic fibrosis9 tests
Cystinuria1 test
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome1 test
Deficiency of 2-methylbutyryl-CoA dehydrogenase2 tests
Deficiency of 3-hydroxyacyl-CoA dehydrogenase1 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
Deficiency of acetyl-CoA acetyltransferase2 tests
Deficiency of butyryl-CoA dehydrogenase2 tests
Deficiency of glycerol kinase1 test
Deficiency of hydroxymethylglutaryl-CoA lyase2 tests
Deficiency of isobutyryl-CoA dehydrogenase2 tests
Deficiency of malonyl-CoA decarboxylase2 tests
Deficiency of phosphoserine phosphatase1 test
DiGeorge Syndrome2 tests
Dihydropyrimidine dehydrogenase deficiency2 tests
Disorder due cytochrome p450 CYP2C9 variant1 test
Disorder due cytochrome p450 CYP2D6 variant2 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 encephalopathy2 tests
Familial Mediterranean fever2 tests
Familial adenomatous polyposis 11 test
Familial cancer of breast3 tests
Familial colorectal cancer3 tests
Familial cutaneous melanoma1 test
Familial dysautonomia1 test
Familial hypercholesterolemia2 tests
Familial hyperinsulinism1 test
Familial multiple polyposis syndrome3 tests
Familial prostate carcinoma3 tests
Fanconi anemia, complementation group C1 test
Fragile X syndrome2 tests
Fragile X tremor/ataxia syndrome2 tests
Fumarase deficiency1 test
Gaucher disease1 test
Gilbert syndrome1 test
Global developmental delay7 tests
Glutaric aciduria, type 12 tests
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1 test
Gorlin syndrome2 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 Syndromes2 tests
Hereditary breast and ovarian cancer syndrome6 tests
Hereditary cancer-predisposing syndrome1 test
Hereditary coproporphyria3 tests
Hereditary diffuse gastric cancer5 tests
Hereditary disease4 tests
Hereditary factor VIII deficiency disease1 test
Hereditary factor XI deficiency disease1 test
Hereditary hemochromatosis1 test
Hereditary leiomyomatosis and renal cell cancer3 tests
Hereditary melanoma3 tests
Hereditary nonpolyposis colon cancer5 tests
Hereditary pancreatitis1 test
Hereditary thrombophilia1 test
Histidine transport defect2 tests
Holocarboxylase synthetase deficiency2 tests
Homocystinuria1 test
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
Huntington disease2 tests
Hypercoagulability2 tests
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1 test
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)1 test
Iminoglycinuria1 test
Infertility4 tests
Inherited renal cancer-predisposing syndrome1 test
Intellectual disability1 test
Isovaleryl-CoA dehydrogenase deficiency2 tests
Joubert syndrome 21 test
Juvenile polyposis syndrome4 tests
Klinefelter syndrome6 tests
Known OR suspected fetal abnormality affecting management of mother6 tests
Langer-Giedion syndrome1 test
Li-Fraumeni syndrome5 tests
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency2 tests
Lynch syndrome4 tests
Lysinuric protein intolerance1 test
Lysosomal acid lipase deficiency1 test
MYH-associated polyposis4 tests
Maple syrup urine disease3 tests
Maple syrup urine disease, type 32 tests
Maternal care for suspected chromosomal abnormality in fetus6 tests
Medium-chain acyl-coenzyme A dehydrogenase deficiency4 tests
Mental retardation, X-linked, syndromic 102 tests
Methylmalonate semialdehyde dehydrogenase deficiency1 test
Methylmalonic acidemia4 tests
Mevalonic aciduria1 test
Microcephaly, normal intelligence and immunodeficiency3 tests
Miller Dieker syndrome1 test
Mitochondrial disease4 tests
Mosaic sex chromosome aneuploidy2 tests
Mucolipidosis type IV1 test
Multiple acyl-CoA dehydrogenase deficiency2 tests
Multiple congenital anomalies10 tests
Multiple endocrine neoplasia, type 13 tests
Multiple endocrine neoplasia, type 23 tests
Multiple endocrine neoplasia, type 41 test
Multiple fibrofolliculomas2 tests
Myocardial infarction3 tests
Neurofibromatosis, type 15 tests
Neutral 1 amino acid transport defect1 test
Niemann-Pick disease, type A1 test
Niemann-Pick disease, type B1 test
Non-ketotic hyperglycinemia2 tests
Ornithine aminotransferase deficiency1 test
Ornithine carbamoyltransferase deficiency2 tests
Oxoglutaricaciduria1 test
Pancreatic cancer 33 tests
Peroxisome biogenesis disorder1 test
Peutz-Jeghers syndrome5 tests
Phenylketonuria4 tests
Phosphoglycerate dehydrogenase deficiency1 test
Phytanic acid storage disease1 test
Porphobilinogen synthase deficiency2 tests
Porphyria cutanea tarda2 tests
Prader-Willi syndrome3 tests
Pregnancy loss, recurrent, susceptibility to, 16 tests
Premature ovarian failure 11 test
Primary hyperoxaluria, type I1 test
Primary hyperoxaluria, type II1 test
Propionic acidemia2 tests
Pure gonadal dysgenesis 46,XY1 test
Pyruvate dehydrogenase complex deficiency1 test
Renal carnitine transport defect2 tests
Renal cell carcinoma1 test
Rett syndrome2 tests
Rhabdoid tumor predisposition syndrome 22 tests
Ribavirin response1 test
Sarcosine dehydrogenase deficiency1 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 factor V Leiden1 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 I2 tests
Tyrosinemia type II2 tests
Usher Syndrome, Type III1 test
Usher syndrome type 1F1 test
Variegate porphyria3 tests
Velocardiofacial syndrome1 test
Very long chain acyl-CoA dehydrogenase deficiency1 test
Von Hippel-Lindau syndrome3 tests
Warfarin response2 tests
Williams syndrome1 test
Wolman disease1 test
X-linked ichthyosis with steryl-sulfatase deficiency1 test
alpha Thalassemia7 tests
beta Thalassemia2 tests
von Willebrand disorder1 test
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