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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: 20268

Gene

GeneSubmissionsLast Updated
A-GAMMA3'E1Dec 29, 2021
ABL11Aug 16, 2018
ACADM25Dec 28, 2022
ADAMTS121Dec 28, 2022
ADAMTS171Aug 16, 2018
ADAMTS181Dec 28, 2022
ADAMTS31Jul 31, 2020
ADAMTSL11Dec 28, 2022
ADCY21Aug 16, 2018
ADGRL32Feb 10, 2022
ADGRV15Dec 28, 2022
AFAP11Aug 28, 2019
AFF21Aug 16, 2018
AFF31Aug 28, 2019
AGAP15Feb 10, 2022
AGBL11Jul 31, 2020
AGBL412Dec 28, 2022
AGMO4Feb 10, 2022
AHI11Aug 28, 2019
ALK1Aug 28, 2019
ANK21Aug 16, 2018
ANKRD114Jul 31, 2020
ANKS1B7Dec 28, 2022
ANO101Aug 28, 2019
ANO31Jul 31, 2020
AOPEP12Dec 28, 2022
APBB21Feb 10, 2022
APC495Dec 28, 2022
APOB149Dec 28, 2022
APOB3'MAR1Dec 31, 2020
APP2Dec 28, 2022
ARFGEF11Aug 16, 2018
ARHGAP102Dec 28, 2022
ARHGAP151Dec 28, 2022
ARHGAP421Aug 16, 2018
ARHGEF281Aug 28, 2019
ARID1B3Jul 31, 2020
ASAP11Dec 28, 2022
ASCC31Aug 28, 2019
ASS11May 27, 2014
ASTN227Dec 28, 2022
ATM83Dec 28, 2022
ATP13A41Aug 16, 2018
ATP8A24Dec 28, 2022
ATP9B1Jul 31, 2020
ATRNL15Dec 28, 2022
ATXN11Aug 28, 2019
AUH1May 27, 2014
AUTS221Dec 28, 2022
AXIN239Dec 28, 2022
BABAM21Jul 31, 2020
BAP119Dec 28, 2022
BARD1154Dec 28, 2022
BAZ2B1Dec 28, 2022
BBS21May 27, 2014
BBS95Dec 28, 2022
BCAS33Feb 10, 2022
BLM33Dec 28, 2022
BMPR1A78Dec 28, 2022
BMPR1B1Aug 28, 2019
BRCA11137Dec 28, 2022
BRCA21983Dec 28, 2022
BRCC31Dec 28, 2022
BRINP33Jul 31, 2020
BRIP1192Dec 28, 2022
BTBD92Dec 28, 2022
BTD56Dec 28, 2022
C11orf6534Dec 28, 2022
C1orf211Dec 28, 2022
CA101Aug 16, 2018
CACNA1A1Feb 10, 2022
CACNA1C3Jul 31, 2020
CACNA2D13Aug 28, 2019
CACNA2D36Dec 28, 2022
CADM11Aug 16, 2018
CADM22Jul 31, 2020
CADPS22Jul 31, 2020
CALN12Jul 31, 2020
CAMK2D1Aug 28, 2019
CAMK41Dec 28, 2022
CAMTA12Aug 28, 2019
CCBE11Aug 28, 2019
CCDC102B1Aug 28, 2019
CCDC1412Dec 28, 2022
CCDC1482Feb 10, 2022
CCDC1701Jul 31, 2020
CCDC1711Dec 28, 2022
CCDC72Aug 28, 2019
CCNY1Aug 28, 2019
CCSER11Dec 28, 2022
CDH1211Dec 28, 2022
CDH122Dec 28, 2022
CDH132Dec 28, 2022
CDH182Dec 28, 2022
CDH231Aug 16, 2018
CDH41Aug 28, 2019
CDK131Feb 10, 2022
CDK143Dec 28, 2022
CDK437Dec 28, 2022
CDK5RAP21Dec 28, 2022
CDKAL18Feb 10, 2022
CDKN1B8Dec 28, 2022
CDKN2A55Dec 28, 2022
CELF21Feb 10, 2022
CENPP2Jul 31, 2020
CEP1121Feb 10, 2022
CEP1281Jul 31, 2020
CEP85L1Jul 31, 2020
CERS31Jul 31, 2020
CFAP20DC1Jul 31, 2020
CFTR315Dec 28, 2022
CFTR-AS143Dec 28, 2022
CHCHD61Dec 28, 2022
CHD61Jul 31, 2020
CHEK2158Dec 28, 2022
CHL14Feb 10, 2022
CHRM31Aug 28, 2019
CHST111Jul 31, 2020
CLEC16A1Aug 28, 2019
CLTCL11Aug 16, 2018
CMIP1Aug 28, 2019
CMSS12Dec 28, 2022
CNBD11Jul 31, 2020
CNTLN1Aug 28, 2019
CNTN428Dec 28, 2022
CNTN53Jul 31, 2020
CNTN610Dec 28, 2022
CNTNAP221Dec 28, 2022
CNTNAP52Feb 10, 2022
COBL2Feb 10, 2022
COL11A11Feb 10, 2022
COL19A13Jul 31, 2020
COL22A11Dec 28, 2022
COL24A12Feb 10, 2022
COL25A11Jul 31, 2020
COL4A51Jul 31, 2020
COLGALT21Aug 28, 2019
CORIN1Aug 16, 2018
COX101Aug 16, 2018
CPA61Aug 16, 2018
CPED11Feb 10, 2022
CPQ1Aug 28, 2019
CREBBP1Jul 31, 2020
CRPPA1Aug 16, 2018
CSMD114Dec 28, 2022
CSMD37Dec 28, 2022
CTCF1Dec 28, 2022
CTNNA23Dec 28, 2022
CTNNA38Dec 28, 2022
CTNND28Dec 28, 2022
CUX12Jul 31, 2020
CWC271Dec 28, 2022
CYP21A215Dec 28, 2022
DACH11Dec 28, 2022
DACH22Dec 28, 2022
DCC2Dec 28, 2022
DENND4C2Jul 31, 2020
DGKB3Dec 28, 2022
DHFR19Dec 28, 2022
DIAPH22Dec 28, 2022
DIAPH33Aug 28, 2019
DICER137Dec 28, 2022
DISC17Dec 28, 2022
DLG28Dec 28, 2022
DLGAP12Dec 28, 2022
DMBT11Feb 10, 2022
DMD49Dec 28, 2022
DMRT11Feb 10, 2022
DNAH141Jul 31, 2020
DNAH71Feb 10, 2022
DNAJC11Feb 10, 2022
DNER1Aug 28, 2019
DNM32Dec 28, 2022
DOCK13Dec 28, 2022
DOCK31Aug 28, 2019
DOCK41Feb 10, 2022
DOCK89Dec 28, 2022
DOK51Jul 31, 2020
DPYD4Jul 31, 2020
DTNBP11Aug 28, 2019
DYM2Aug 16, 2018
DYNC2H12Feb 10, 2022
EDA1Dec 28, 2022
EFCAB51Jul 31, 2020
EGFR4Dec 28, 2022
EGFR-AS11Dec 29, 2021
EHMT12Jul 31, 2020
ELP31Aug 16, 2018
ELP41Dec 28, 2022
EML61Aug 16, 2018
ENOX12Dec 28, 2022
ENPP61Dec 28, 2022
ENTPD11Aug 16, 2018
ENTREP21Jul 31, 2020
EPB41L4A1Aug 28, 2019
EPHA62Feb 10, 2022
EPS81Aug 16, 2018
ERBB44Jul 31, 2020
ERC12Aug 28, 2019
ERC21Aug 28, 2019
ESR21Aug 16, 2018
EVC1Dec 28, 2022
EVC21Jul 31, 2020
EXOC48Dec 28, 2022
EXOC6B2Aug 16, 2018
EYA41Aug 16, 2018
EYS20Dec 28, 2022
FAF13Dec 28, 2022
FAM13A2Feb 10, 2022
FAM172A2Feb 10, 2022
FANCA65Dec 28, 2022
FANCC17Dec 28, 2022
FANCM61Dec 28, 2022
FARS27Dec 28, 2022
FAT31Dec 28, 2022
FBXL171Jul 31, 2020
FBXO111Aug 1, 2017
FER1Jul 31, 2020
FER1L61Aug 16, 2018
FGD61Feb 10, 2022
FGF122Dec 28, 2022
FGF131Aug 28, 2019
FGF141Jul 31, 2020
FGGY4Feb 10, 2022
FH13Dec 28, 2022
FHIP1A1Aug 16, 2018
FHIT7Dec 28, 2022
FILIP1L2Dec 28, 2022
FKTN1Aug 16, 2018
FLCN13Dec 28, 2022
FNBP11Feb 10, 2022
FOCAD3Feb 10, 2022
FOXP12Aug 28, 2019
FPGT-TNNI3K1Dec 28, 2022
FRAS11Aug 28, 2019
FREM11Aug 16, 2018
FREM31Dec 28, 2022
FRMD51Dec 28, 2022
FSTL51Aug 16, 2018
FTO1Aug 16, 2018
GABBR21Aug 16, 2018
GABRG31Dec 28, 2022
GALK21Jul 31, 2020
GALNT1222Dec 28, 2022
GALNT131Aug 28, 2019
GALNT171Dec 28, 2022
GALNT71Aug 16, 2018
GALNTL63Jul 31, 2020
GBE12Jul 31, 2020
GHR2Jul 31, 2020
GLDC2Feb 10, 2022
GLI21Aug 16, 2018
GLI31Aug 16, 2018
GMDS4Dec 28, 2022
GPC31Dec 28, 2022
GPC56Feb 10, 2022
GPC65Dec 28, 2022
GPHN6Dec 28, 2022
GPM6A1Aug 16, 2018
GPR75-ASB31Jul 31, 2020
GRIA31Feb 10, 2022
GRIA41Dec 28, 2022
GRID13Dec 28, 2022
GRID23Feb 10, 2022
GRIK11Dec 28, 2022
GRIN2A3Dec 28, 2022
GRIN2B1Jul 31, 2020
GRIP12Dec 28, 2022
GRM11Feb 10, 2022
GRM73Feb 10, 2022
GRM81Aug 16, 2018
HACL11Aug 1, 2017
HBA160Dec 28, 2022
HBA297Dec 28, 2022
HBB266Dec 28, 2022
HCN11Jul 31, 2020
HDAC42Feb 10, 2022
HDAC92Dec 28, 2022
HEXA7Dec 28, 2022
HLCS1Feb 10, 2022
HMCN11Dec 28, 2022
HMGCLL12Feb 10, 2022
HOXB1311Dec 28, 2022
HPSE21Aug 28, 2019
HYDIN1Aug 16, 2018
IGF1R1Aug 28, 2019
IL1RAPL111Dec 28, 2022
IL1RAPL23Jul 31, 2020
IMMP2L1Aug 28, 2019
INVS2Jul 31, 2020
IQCA11Aug 28, 2019
IQCJ-SCHIP11Aug 28, 2019
IQGAP21Jul 31, 2020
ITGA91Dec 28, 2022
ITPR21Aug 16, 2018
JARID23Aug 28, 2019
JAZF12Feb 10, 2022
JMJD1C2Dec 28, 2022
KALRN1Jul 31, 2020
KANK17Dec 28, 2022
KATNAL21Feb 10, 2022
KATNIP1Aug 28, 2019
KCND21Feb 10, 2022
KCNH13Feb 10, 2022
KCNIP11Aug 16, 2018
KCNIP41Dec 28, 2022
KCNMA13Feb 10, 2022
KCNQ11Jul 31, 2020
KCNQ51Aug 28, 2019
KDM4C3Dec 28, 2022
KDM6A1Aug 16, 2018
KIAA03191Dec 28, 2022
KIAA13285Dec 28, 2022
KIF26B3Dec 28, 2022
KIRREL31Feb 10, 2022
KLHL11Feb 10, 2022
KLHL61Dec 28, 2022
KLLN27Dec 28, 2022
KNTC11Jul 31, 2020
LAMA24Feb 10, 2022
LAMC31Aug 28, 2019
LARGE19Dec 28, 2022
LCLAT11Jul 31, 2020
LDB21Aug 16, 2018
LDLR105Dec 28, 2022
LDLR-AS17Dec 28, 2022
LIMD11Dec 28, 2022
LINGO28Feb 10, 2022
LOC10050734615Dec 28, 2022
LOC106099062179Dec 28, 2022
LOC1065602115Dec 28, 2022
LOC1067217855Dec 31, 2020
LOC10678080015Dec 28, 2022
LOC10680461297Dec 28, 2022
LOC10680461357Dec 28, 2022
LOC107133510266Dec 28, 2022
LOC1073033401Dec 28, 2022
LOC11000631993Dec 28, 2022
LOC1106314172Dec 28, 2022
LOC1115892153Oct 16, 2019
LOC1116744639Dec 28, 2022
LOC11167447227Dec 28, 2022
LOC11167447511Dec 28, 2022
LOC1116744778Dec 28, 2022
LOC1124862233Dec 28, 2022
LOC1136338772Mar 6, 2020
LOC1136641063Dec 29, 2021
LPP3Dec 28, 2022
LRBA1Aug 16, 2018
LRCH31Jul 31, 2020
LRFN52Aug 28, 2019
LRGUK1Aug 16, 2018
LRP1B5Jul 31, 2020
LRRC4C3Jul 31, 2020
LRRIQ11Dec 28, 2022
LSAMP1Dec 28, 2022
LTBP11Aug 28, 2019
LUZP11Jul 31, 2020
MACROD25Dec 28, 2022
MAD1L11Aug 28, 2019
MAGI13Dec 28, 2022
MAGI21Jul 31, 2020
MAP41Aug 16, 2018
MAP4K31Aug 16, 2018
MARCHF14Dec 28, 2022
MAST43Dec 28, 2022
MAX1Dec 28, 2022
MBD517Dec 28, 2022
MCC2Aug 28, 2019
MCPH13Aug 28, 2019
MCTP21Aug 28, 2019
MDGA23Feb 10, 2022
ME11Dec 28, 2022
MECP28Dec 28, 2022
MED12L2Feb 10, 2022
MED13L6Dec 28, 2022
MEF2C1Jul 31, 2020
MEFV7Mar 6, 2020
MELK1Jul 31, 2020
MEN112Dec 28, 2022
MET7Dec 28, 2022
METTL151Aug 16, 2018
MGAT4C1Jul 31, 2020
MGMT2Aug 28, 2019
MICU12Jul 31, 2020
MID13Dec 28, 2022
MIPOL11Dec 28, 2022
MITF2Dec 28, 2022
MLH1241Dec 28, 2022
MMP161Jul 31, 2020
MNAT11Dec 28, 2022
MRE1114Dec 28, 2022
MSH2307Dec 28, 2022
MSH359Dec 28, 2022
MSH6452Dec 28, 2022
MSI21Dec 28, 2022
MSRA3Dec 28, 2022
MUTYH155Dec 28, 2022
MYO1D1Aug 16, 2018
MYO3A2Dec 28, 2022
MYO3B2Dec 28, 2022
MYO5A1Aug 28, 2019
MYT1L3Dec 28, 2022
NAALADL24Feb 10, 2022
NALCN1Aug 16, 2018
NALF11Aug 16, 2018
NBAS6Feb 10, 2022
NBEA3Feb 10, 2022
NBN139Dec 28, 2022
NCKAP55Feb 10, 2022
NEBL1Aug 16, 2018
NEGR12Jul 31, 2020
NEK111Jul 31, 2020
NELL21Aug 16, 2018
NF148Dec 28, 2022
NKAIN22Jul 31, 2020
NKAIN31Feb 10, 2022
NLGN12Dec 28, 2022
NLGN4X2Aug 28, 2019
NME71Aug 28, 2019
NOS1AP1Aug 28, 2019
NOTCH21Aug 28, 2019
NOX51Dec 28, 2022
NPAS34Dec 28, 2022
NR3C21Jul 31, 2020
NRCAM1Jul 31, 2020
NRG34Feb 10, 2022
NRXN139Dec 28, 2022
NSD21Aug 28, 2019
NSMCE21Aug 28, 2019
NTHL117Dec 28, 2022
NUDCD11Dec 28, 2022
NXN2Dec 28, 2022
NXPH11Aug 16, 2018
NYAP21Dec 28, 2022
OCA22Jul 31, 2020
OPCML1Aug 16, 2018
OSBPL81Dec 28, 2022
OSGIN21Oct 16, 2019
PACRG1Jul 31, 2020
PACSIN21Aug 16, 2018
PAH55Dec 28, 2022
PAK51Feb 10, 2022
PALB2257Dec 28, 2022
PARD35Dec 28, 2022
PARD3B2Dec 28, 2022
PARVB1Aug 16, 2018
PATJ2Dec 28, 2022
PCCA4Jul 31, 2020
PCDH11X2Aug 16, 2018
PCDH154Feb 10, 2022
PCDH92Aug 16, 2018
PCLO1Aug 28, 2019
PCSK935Dec 28, 2022
PDE11A4Dec 28, 2022
PDE1A1Dec 28, 2022
PDE4D5Dec 28, 2022
PDSS21Feb 10, 2022
PHACTR21Jul 31, 2020
PI4KA1Jul 31, 2020
PIBF11Jul 31, 2020
PIGN2Dec 28, 2022
PIK3C2G3Dec 28, 2022
PKD1L11Aug 28, 2019
PKD1L21Feb 10, 2022
PKHD11Aug 16, 2018
PLA2R11Aug 28, 2019
PLCB12Jul 31, 2020
PLD52Dec 28, 2022
PLEKHA71Jul 31, 2020
PLXDC22Dec 28, 2022
PMS2269Dec 28, 2022
POLD1268Dec 28, 2022
POLE431Dec 28, 2022
POLQ1Feb 10, 2022
POT115Dec 28, 2022
PPFIBP21Jul 31, 2020
PPM1L1Aug 16, 2018
PPP1R1C2Dec 28, 2022
PPP2R2C1Aug 16, 2018
PPP6R21Feb 10, 2022
PRKAG21Aug 16, 2018
PRKCA2Dec 28, 2022
PRKG11Jul 31, 2020
PRKN28Dec 28, 2022
PRUNE21Feb 10, 2022
PSD34Jul 31, 2020
PTCH157Dec 28, 2022
PTEN111Dec 28, 2022
PTGER31Aug 28, 2019
PTPN41Aug 16, 2018
PTPRD13Dec 28, 2022
PTPRM4Dec 28, 2022
PTPRN26Dec 28, 2022
PTPRT5Feb 10, 2022
PXDNL2Feb 10, 2022
RABGAP1L2Feb 10, 2022
RAD5021Dec 28, 2022
RAD51B1Feb 10, 2022
RAD51C70Dec 28, 2022
RAD51D65Dec 28, 2022
RAD51L3-RFFL65Dec 28, 2022
RASGRF21Aug 28, 2019
RBFOX117Dec 28, 2022
RBFOX21Feb 10, 2022
RECQL13Dec 28, 2022
RELN1Dec 28, 2022
RERE1Aug 28, 2019
RET24Dec 28, 2022
RFC31Aug 16, 2018
RFXAP1May 27, 2014
RGL11Aug 16, 2018
RGS221Jul 31, 2020
RGS61Feb 10, 2022
RGS71Dec 28, 2022
RHBDD13Aug 28, 2019
RIMS21Dec 28, 2022
RIN31Feb 10, 2022
ROBO21Dec 28, 2022
RPGRIP1L1Aug 28, 2019
RPS6KA21Aug 28, 2019
RREB11Aug 28, 2019
RSRC12Aug 16, 2018
RUFY31Aug 16, 2018
RYR25Feb 10, 2022
RYR31Jul 31, 2020
SATB21Jul 31, 2020
SBF21Jul 31, 2020
SCAPER2Dec 28, 2022
SCFD11Aug 16, 2018
SCFD22Aug 28, 2019
SDCCAG81Aug 16, 2018
SDHA36Dec 28, 2022
SDHAF24Dec 28, 2022
SDHB4Dec 28, 2022
SDHC26Dec 28, 2022
SDHD25Dec 28, 2022
SDK18Dec 28, 2022
SEL1L21Jul 31, 2020
SEMA3A1Jul 31, 2020
SEMA3E1Aug 28, 2019
SEMA6A1Jul 31, 2020
SERGEF1Aug 28, 2019
SGCZ3Dec 28, 2022
SH3PXD2A1Aug 28, 2019
SHANK26Dec 28, 2022
SHOC11Aug 16, 2018
SLC20A21Aug 16, 2018
SLC24A22Dec 28, 2022
SLC2A132Dec 28, 2022
SLC30A81Aug 28, 2019
SLC44A51Aug 28, 2019
SMAD456Dec 28, 2022
SMAD91May 27, 2014
SMARCA21Aug 16, 2018
SMARCA441Dec 28, 2022
SMARCAL11Aug 28, 2019
SMYD35Dec 28, 2022
SNCAIP1Aug 28, 2019
SND11Aug 28, 2019
SNTG11Aug 28, 2019
SNTG22Dec 28, 2022
SNX296Dec 28, 2022
SORCS11Dec 28, 2022
SORCS31Dec 28, 2022
SOX58Dec 28, 2022
SP41Aug 28, 2019
SPAG164Jul 31, 2020
SPATA54Feb 10, 2022
SPATA61Aug 28, 2019
SPIRE11Aug 28, 2019
SPOCK11Aug 28, 2019
SPOCK31Feb 10, 2022
SRBD11Jul 31, 2020
STAG12Feb 10, 2022
STK11141Dec 28, 2022
STK32B3Feb 10, 2022
STON1-GTF2A1L1Aug 28, 2019
STPG21Aug 28, 2019
STS1Aug 16, 2018
STX81Aug 16, 2018
STXBP5L1Aug 28, 2019
SUCLG21Dec 28, 2022
SUFU13Dec 28, 2022
SUGCT10Dec 28, 2022
SUPT3H3Jul 31, 2020
SUSD41Aug 28, 2019
SYN31Dec 28, 2022
SYNE12Dec 28, 2022
SYNRG1Dec 28, 2022
SYT12Feb 10, 2022
SYT92Feb 10, 2022
TBC1D22A1Aug 16, 2018
TBC1D321Jul 31, 2020
TBC1D52Dec 28, 2022
TBCD1Aug 16, 2018
TBCK2Dec 28, 2022
TBL1XR11Aug 16, 2018
TCF44Aug 28, 2019
TEK1Aug 28, 2019
TENM31Aug 16, 2018
TENM43Jul 31, 2020
TESK21Aug 16, 2018
TEX143Dec 28, 2022
TH2-LCR1Dec 28, 2022
TH2LCRR3Dec 28, 2022
THADA2Jul 31, 2020
THRB53Dec 28, 2022
THSD41Dec 28, 2022
THSD7A1Aug 28, 2019
THSD7B2Dec 28, 2022
TIAM12Jul 31, 2020
TMC21Jul 31, 2020
TMEM1172Dec 28, 2022
TMEM1273Dec 28, 2022
TMEM1351Aug 28, 2019
TMEM2411Jul 31, 2020
TMEM2601Aug 16, 2018
TMLHE3Dec 28, 2022
TMTC11Aug 16, 2018
TMTC21Jul 31, 2020
TNNI3K1Dec 28, 2022
TNRC181Feb 10, 2022
TNXB3Dec 28, 2022
TOE15Dec 28, 2022
TP53101Dec 28, 2022
TPD521Dec 28, 2022
TRAK11Feb 10, 2022
TRAP11Dec 28, 2022
TRAPPC95Feb 10, 2022
TRPC51Dec 28, 2022
TRPM11Aug 28, 2019
TRPM31Aug 16, 2018
TRPS12Dec 28, 2022
TSC116Dec 28, 2022
TSC233Dec 28, 2022
TSHZ21Feb 10, 2022
TSPAN3119Dec 28, 2022
TTC233Dec 28, 2022
TTC281Aug 16, 2018
TTLL111Jul 31, 2020
TUSC31Aug 28, 2019
UBE3A1Aug 28, 2019
UGT1A81Aug 16, 2018
ULK42Dec 28, 2022
UNC13C1Aug 28, 2019
USH2A4Jul 31, 2020
UTRN1Dec 28, 2022
VAT1L1Aug 16, 2018
VEPH12Feb 10, 2022
VHL3Dec 28, 2022
VIT1Aug 16, 2018
VPS13B6Feb 10, 2022
VPS13D1Jul 31, 2020
VWC2L1Aug 16, 2018
VWF236Dec 28, 2022
WDFY21Aug 28, 2019
WDFY31Feb 10, 2022
WDHD11Aug 28, 2019
WDR272Feb 10, 2022
WDR703Dec 28, 2022
WDR722Feb 10, 2022
WWOX12Dec 28, 2022
XIRP21Dec 28, 2022
XRCC25Dec 28, 2022
XRCC43Jul 31, 2020
YWHAE1Aug 28, 2019
ZEB11Aug 16, 2018
ZFHX31Aug 28, 2019
ZFYVE91Dec 28, 2022
ZMAT41Aug 16, 2018
ZNF1481Feb 10, 2022
ZNF27615Dec 28, 2022
ZNF7321Feb 10, 2022
ZNF833Feb 10, 2022
ZNRF31Jul 31, 2020
ZRANB33Dec 28, 2022

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-methylcrotonyl-CoA carboxylase 1 deficiency2 tests
3-methylglutaconic aciduria type 12 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 deficiency1 test
Alpha-methylacyl-CoA racemase deficiency1 test
Angelman syndrome3 tests
Arginase deficiency1 test
Argininosuccinate lyase deficiency2 tests
Atrial fibrillation1 test
Autism spectrum disorder7 tests
BAP1-related 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, susceptibility to, 32 tests
Breast-ovarian cancer, familial, susceptibility to, 42 tests
Bronchiectasis1 test
CYP2C19-related poor drug metabolism2 tests
Carnitine acylcarnitine translocase deficiency1 test
Carnitine palmitoyl transferase 1A deficiency2 tests
Carnitine palmitoyltransferase II deficiency1 test
Cholesteryl ester storage disease1 test
Chromosome 1p36 deletion syndrome1 test
Citrullinemia type II2 tests
Citrullinuria3 tests
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2 tests
Cobalamin deficiency2 tests
Cognitive impairment7 tests
Colorectal cancer, susceptibility to, 103 tests
Complete trisomy 13 syndrome1 test
Complete trisomy 18 syndrome1 test
Complete trisomy 21 syndrome1 test
Congenital chromosomal disease2 tests
Congenital hyperammonemia, type I1 test
Congenital plasminogen activator inhibitor type 1 deficiency1 test
Coronary artery disease, susceptibility to2 tests
Coronary artery disorder1 test
Cowden syndrome1 test
Cowden syndrome 14 tests
Cutaneous porphyria2 tests
Cystic fibrosis9 tests
Cystinuria1 test
DICER1 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 variant1 test
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 adenomatous polyposis 24 tests
Familial cancer of breast3 tests
Familial colorectal cancer3 tests
Familial cutaneous melanoma1 test
Familial dysautonomia1 test
Familial hypercholesterolemia2 tests
Familial hyperinsulinism1 test
Familial melanoma3 tests
Familial multiple polyposis syndrome3 tests
Familial prostate carcinoma3 tests
Fanconi anemia complementation group C1 test
Fragile X syndrome1 test
Fragile X-associated tremor/ataxia syndrome1 test
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
HSD10 mitochondrial disease2 tests
HYDROPS FETALIS, ALPHA-THALASSEMIA-RELATED1 test
Hawkinsinuria1 test
Hb SS disease2 tests
Hepatitis C virus infection, response to therapy of1 test
Hereditary breast ovarian cancer syndrome6 tests
Hereditary cancer-predisposing syndrome1 test
Hereditary coproporphyria3 tests
Hereditary diffuse gastric adenocarcinoma5 tests
Hereditary disease4 tests
Hereditary factor VIII deficiency disease1 test
Hereditary factor XI deficiency disease1 test
Hereditary hemochromatosis1 test
Hereditary nonpolyposis colon cancer5 tests
Hereditary pancreatitis1 test
Hereditary pheochromocytoma-paraganglioma2 tests
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 anosmia1 test
Iminoglycinuria1 test
Infertility4 tests
Inherited renal cancer-predisposing syndrome1 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
Maple syrup urine disease3 tests
Maternal care for suspected chromosomal abnormality in fetus6 tests
Medium-chain acyl-coenzyme A dehydrogenase deficiency4 tests
Melanoma, cutaneous malignant, susceptibility to, 22 tests
Methylmalonate semialdehyde dehydrogenase deficiency1 test
Methylmalonic acidemia4 tests
Mevalonic aciduria1 test
Microcephaly, normal intelligence and immunodeficiency3 tests
Miller Dieker syndrome1 test
Miscarriage4 tests
Mitochondrial disease4 tests
Mosaic sex chromosome aneuploidy2 tests
Mucolipidosis type IV1 test
Multiple acyl-CoA dehydrogenase deficiency2 tests
Multiple congenital anomalies10 tests
Multiple cutaneous leiomyomas3 tests
Multiple endocrine neoplasia type 41 test
Multiple endocrine neoplasia, type 13 tests
Multiple endocrine neoplasia, type 23 tests
Multiple fibrofolliculomas2 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 41 test
Myocardial infarction2 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
PHGDH deficiency1 test
Pancreatic cancer, susceptibility to, 33 tests
Peroxisome biogenesis disorder1 test
Peutz-Jeghers syndrome5 tests
Phenylketonuria4 tests
Phytanic acid storage disease1 test
Porphobilinogen synthase deficiency2 tests
Porphyria cutanea tarda2 tests
Prader-Willi syndrome3 tests
Pregnancy loss, recurrent, susceptibility to, 16 tests
Primary hyperoxaluria, type I1 test
Primary hyperoxaluria, type II1 test
Propionic acidemia2 tests
Pure gonadal dysgenesis 46,XY1 test
Pyruvate dehydrogenase E3 deficiency2 tests
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
Solid tumor2 tests
Spermatogenic failure, Y-linked, 21 test
Spinal muscular atrophy3 tests
Spongy degeneration of central nervous system2 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 I2 tests
Tyrosinemia type II2 tests
Usher syndrome type 1F1 test
Usher syndrome type 31 test
Variegate porphyria3 tests
Velocardiofacial syndrome1 test
Very long chain acyl-CoA dehydrogenase deficiency1 test
Von Hippel-Lindau syndrome3 tests
Warfarin response1 test
Williams syndrome1 test
Wolman disease1 test
X-linked ichthyosis with steryl-sulfatase deficiency1 test
alpha Thalassemia5 tests
beta Thalassemia2 tests
von Willebrand disorder1 test