ARUP Laboratories, Molecular Genetics and Genomics (ARUP Laboratories)

General information

ARUP Laboratories, Molecular Genetics and Genomics
ARUP Laboratories
500 Chipeta Way
Salt Lake City
Utah
United States - 84108
http://www.aruplab.com/genetics
Organization ID: 25969

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 10411

Gene

GeneSubmissionsLast Updated
AARS110Aug 5, 2019
ABCA439Aug 5, 2019
ABCB71Jun 30, 2017
ABCC912Aug 5, 2019
ABCD125Aug 5, 2019
ABCD41Oct 10, 2018
ACACA1Aug 5, 2019
ACAD94Aug 5, 2019
ACADL3Aug 5, 2019
ACADM97Aug 5, 2019
ACADS4Aug 5, 2019
ACADVL92Aug 5, 2019
ACAT11Oct 10, 2018
ACSF35Aug 5, 2019
ACTA11Aug 5, 2019
ACTA24Aug 5, 2019
ACTG15Aug 5, 2019
ACTN26Aug 5, 2019
ACVRL194Aug 5, 2019
ADA8Aug 5, 2019
ADA21Aug 5, 2019
ADGRV146Aug 5, 2019
AGL2Jun 30, 2017
AGPS6Aug 5, 2019
AICDA2Oct 10, 2018
AIPL19Aug 5, 2019
AK16Aug 5, 2019
AKAP937Aug 5, 2019
AKT12Aug 5, 2019
ALDOA3Aug 5, 2019
ALG111Aug 5, 2019
ALK9Aug 5, 2019
ALPL12Aug 5, 2019
ALS25Aug 5, 2019
AMER11Oct 10, 2018
AMN4Aug 5, 2019
ANK146Aug 5, 2019
ANK237Aug 5, 2019
ANKRD12Aug 5, 2019
AOPEP1Jun 30, 2017
APC88Aug 5, 2019
APOB1Aug 5, 2019
APTX5Aug 5, 2019
ARCN11Jan 15, 2020
ARFGEF21Aug 5, 2019
ARHGEF1013Aug 5, 2019
ARSL9Aug 5, 2019
ASH1L1Feb 13, 2018
ASS19Aug 5, 2019
ATL11Oct 10, 2018
ATM60Aug 5, 2019
ATP7A11Aug 5, 2019
ATP7B102Aug 5, 2019
ATPAF25Aug 5, 2019
ATR5Aug 5, 2019
ATRX3Aug 5, 2019
AXIN22Aug 5, 2019
BAG311Aug 5, 2019
BAP15Aug 5, 2019
BARD117Aug 5, 2019
BCKDHA3Aug 5, 2019
BCKDHB1Oct 10, 2018
BCS1L1Aug 5, 2019
BEST16Aug 5, 2019
BICD26Aug 5, 2019
BLNK6Aug 5, 2019
BMPR1A11Aug 5, 2019
BMPR226Aug 5, 2019
BRAF6Aug 5, 2019
BRCA1158Aug 5, 2019
BRCA2318Aug 5, 2019
BRIP121Aug 5, 2019
BSCL25Aug 5, 2019
BTD15Aug 5, 2019
BTK8Aug 5, 2019
C10orf1054Aug 5, 2019
C11orf6516Aug 5, 2019
C3orf801Oct 10, 2018
C8orf373Aug 5, 2019
C8orf37-AS11Aug 5, 2019
CA44Aug 5, 2019
CACNA1A2Oct 10, 2018
CACNA1C20Aug 5, 2019
CACNA1C-AS113Aug 5, 2019
CACNA1S1Aug 5, 2019
CACNB26Aug 5, 2019
CAMK2D1Aug 5, 2019
CANT11Aug 5, 2019
CARD113Aug 5, 2019
CARD11-AS11Aug 5, 2019
CASK1Oct 10, 2018
CASQ27Aug 5, 2019
CAV13Aug 5, 2019
CAV36Aug 5, 2019
CBL7Aug 5, 2019
CBLIF4Oct 10, 2018
CBS25Aug 5, 2019
CCBE13Aug 5, 2019
CCDC502Oct 10, 2018
CCM212Aug 5, 2019
CCNH19Aug 5, 2019
CCT53Aug 5, 2019
CD199Aug 5, 2019
CD3201Jun 30, 2017
CD406Aug 5, 2019
CD40LG7Aug 5, 2019
CD79A2Jun 30, 2017
CD812Aug 5, 2019
CDAN14Aug 5, 2019
CDH127Aug 5, 2019
CDH2336Aug 5, 2019
CDH23-AS11Oct 10, 2018
CDHR18Aug 5, 2019
CDK5RAP21Aug 5, 2019
CDKN1B2Aug 5, 2019
CDKN2A3Aug 5, 2019
CDON1Aug 5, 2019
CEACAM164Aug 5, 2019
CEP29019Aug 5, 2019
CEP85L1Aug 5, 2019
CERKL2Aug 5, 2019
CFAP921Oct 10, 2018
CFTR266Aug 5, 2019
CFTR-AS135Aug 5, 2019
CHD726Aug 5, 2019
CHD81Aug 5, 2019
CHEK211Aug 5, 2019
CHM2Aug 5, 2019
CHRNG1Oct 10, 2018
CHUK1Aug 5, 2019
CILK13Aug 5, 2019
CLDN141Aug 5, 2019
CLN62Aug 5, 2019
CLRN12Aug 5, 2019
CLRN1-AS11Aug 5, 2019
CLTC1Aug 5, 2019
CNGA13Aug 5, 2019
CNGB119Aug 5, 2019
COCH6Aug 5, 2019
COL11A213Aug 5, 2019
COL1A146Aug 5, 2019
COL1A230Aug 5, 2019
COL2A140Aug 5, 2019
COL3A144Aug 5, 2019
COL4A11Aug 5, 2019
COL4A31Aug 5, 2019
COL4A520Aug 5, 2019
COL5A176Aug 5, 2019
COL5A241Aug 5, 2019
COL9A21Aug 5, 2019
COL9A32Aug 5, 2019
COMP14Aug 5, 2019
COQ23Aug 5, 2019
COQ8A4Aug 5, 2019
COQ93Aug 5, 2019
CORIN5Aug 5, 2019
COX103Aug 5, 2019
COX153Aug 5, 2019
COX4I22Aug 5, 2019
CPT1A7Aug 5, 2019
CPT24Aug 5, 2019
CR213Aug 5, 2019
CRB19Aug 5, 2019
CRTAP11Aug 5, 2019
CRX4Aug 5, 2019
CRYAB2Aug 5, 2019
CRYM1Oct 10, 2018
CSRP34Aug 5, 2019
CTC111Jun 30, 2017
CTCF1Aug 5, 2019
CTF12Aug 5, 2019
CTLA41Aug 5, 2019
CTNS2Oct 10, 2018
CTRC56Aug 5, 2019
CUBN31Aug 5, 2019
CUL4B1Aug 5, 2019
CYB5R37Aug 5, 2019
CYBB1Oct 10, 2018
CYCS1Aug 5, 2019
CYGB1Oct 10, 2018
DARS22Aug 5, 2019
DBT5Aug 5, 2019
DCLRE1C5Aug 5, 2019
DCTN18Aug 5, 2019
DDOST1Aug 5, 2019
DDR23Aug 5, 2019
DES6Aug 5, 2019
DGUOK2Aug 5, 2019
DHCR722Aug 5, 2019
DHFR2Aug 5, 2019
DHTKD112Aug 5, 2019
DIAPH11Oct 10, 2018
DICER18Aug 5, 2019
DIPK1A1Jun 30, 2017
DISP117Aug 5, 2019
DKC11Jun 30, 2017
DLAT4Aug 5, 2019
DLD5Aug 5, 2019
DLG41Oct 10, 2018
DLL320Aug 5, 2019
DMD126Aug 5, 2019
DNAJB22Oct 10, 2018
DNM1L2Aug 5, 2019
DNM27Aug 5, 2019
DNMT125Aug 5, 2019
DNMT3B3Aug 5, 2019
DSC27Aug 5, 2019
DSCAS1Aug 5, 2019
DSG219Aug 5, 2019
DSG2-AS15Aug 5, 2019
DSP27Aug 5, 2019
DSPP6Aug 5, 2019
DTNA5Aug 5, 2019
DUSP294Aug 5, 2019
DYNC1H117Aug 5, 2019
DYNC2H177Aug 5, 2019
EBP5Aug 5, 2019
EDA3Aug 5, 2019
EDAR2Aug 5, 2019
EDARADD4Aug 5, 2019
EFEMP213Aug 5, 2019
EGR24Aug 5, 2019
EIF2AK425Aug 5, 2019
ELANE13Aug 5, 2019
ELP124Aug 5, 2019
EMD2Oct 10, 2018
ENG93Dec 10, 2019
EPB419Aug 5, 2019
EPB4214Aug 5, 2019
EPHB419Aug 5, 2019
ESPN4Aug 5, 2019
ESRRB4Aug 5, 2019
ETFA1Aug 5, 2019
ETFB2Oct 10, 2018
ETHE11Aug 5, 2019
EVC35Aug 5, 2019
EVC245Aug 5, 2019
EXD31Aug 5, 2019
EYA44Aug 5, 2019
EYS21Aug 5, 2019
F8109Aug 5, 2019
F964Aug 5, 2019
FAM161A2Aug 5, 2019
FANCA21Jun 30, 2017
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FANCD2OS1Jun 30, 2017
FANCE2Jun 30, 2017
FANCG2Jun 30, 2017
FANCI10Aug 5, 2019
FANCL3Jun 30, 2017
FANCM8Jun 30, 2017
FASTKD21Oct 10, 2018
FAT48Aug 5, 2019
FBLN55Aug 5, 2019
FBN1163Aug 5, 2019
FBN276Aug 5, 2019
FBXL41Aug 5, 2019
FBXO411Aug 5, 2019
FGD48Aug 5, 2019
FGF81Aug 5, 2019
FGFR114Aug 5, 2019
FGFR29Aug 5, 2019
FGFR329Aug 5, 2019
FH7Aug 5, 2019
FHL12Aug 5, 2019
FIG410Aug 5, 2019
FKBP1015Aug 5, 2019
FKRP8Aug 5, 2019
FKTN6Aug 5, 2019
FLCN20Aug 5, 2019
FLNA73Aug 5, 2019
FLNB61Aug 5, 2019
FLNB-AS12Aug 5, 2019
FLT43Aug 5, 2019
FOXH12Aug 5, 2019
FOXN12Jun 30, 2017
FSCN24Aug 5, 2019
FTH11Aug 5, 2019
FXN5Aug 5, 2019
G6PC1Jun 30, 2017
G6PD37Aug 5, 2019
GAA19Aug 5, 2019
GALC1Jun 30, 2017
GALNS1Aug 5, 2019
GALT38Aug 5, 2019
GAMT3Aug 5, 2019
GAN4Aug 5, 2019
GAREM23Aug 5, 2019
GARS12Aug 5, 2019
GATA22Aug 5, 2019
GBE11Aug 5, 2019
GCLC4Aug 5, 2019
GDAP11Oct 10, 2018
GDF23Oct 10, 2018
GDF51Aug 5, 2019
GDF5-AS11Aug 5, 2019
GFM16Aug 5, 2019
GH-LCR1Aug 5, 2019
GIPC31Aug 5, 2019
GJB16Aug 5, 2019
GJB256Aug 5, 2019
GJB35Aug 5, 2019
GJC21Aug 5, 2019
GLA4Aug 5, 2019
GLB11Aug 5, 2019
GLI217Aug 5, 2019
GLI36Aug 5, 2019
GLMN9Aug 5, 2019
GNPAT13Aug 5, 2019
GNPTAB1Aug 5, 2019
GP61Oct 10, 2018
GPD1L2Aug 5, 2019
GPHN1Aug 5, 2019
GPI5Aug 5, 2019
GPR191Aug 5, 2019
GPSM25Aug 5, 2019
GRHL21Aug 5, 2019
GSDME2Aug 5, 2019
GSR17Aug 5, 2019
GSS4Oct 10, 2018
GUCA1B1Aug 5, 2019
GUCY2D9Aug 5, 2019
GUSB1Oct 10, 2018
HACL11Oct 10, 2018
HADH1Oct 10, 2018
HADHA4Aug 5, 2019
HARS17Aug 5, 2019
HARS21Oct 10, 2018
HBA130Aug 5, 2019
HBA245Aug 5, 2019
HBB161Aug 5, 2019
HCFC13Oct 10, 2018
HELLS1Aug 5, 2019
HEXA15Aug 5, 2019
HGSNAT1Aug 5, 2019
HINT12Aug 5, 2019
HK117Aug 5, 2019
HMGCS24Aug 5, 2019
HNRNPUL2-BSCL25Aug 5, 2019
HOXD105Aug 5, 2019
HRAS5Aug 5, 2019
HSD17B47Aug 5, 2019
HSPB16Aug 5, 2019
HSPB33Aug 5, 2019
HSPB84Aug 5, 2019
HSPG2125Aug 5, 2019
HTR2B1Oct 10, 2018
HUWE11Aug 5, 2019
ICOS5Aug 5, 2019
IDH3B1Oct 10, 2018
IDUA2Aug 5, 2019
IFT8010Aug 5, 2019
IGH4Aug 5, 2019
IGHM4Aug 5, 2019
IGHMBP220Aug 5, 2019
IGLL111Aug 5, 2019
IKBKG6Aug 5, 2019
IKZF11Aug 5, 2019
IL21R1Aug 5, 2019
ILK3Aug 5, 2019
IMPDH14Aug 5, 2019
IMPG21Aug 5, 2019
INF223Aug 5, 2019
INSR29Aug 5, 2019
IPP1Aug 5, 2019
IQSEC21Aug 5, 2019
IRF2BP23Aug 5, 2019
ISCU1Oct 10, 2018
JAG11Aug 5, 2019
JAK31Jun 30, 2017
JPH24Aug 5, 2019
JUP11Aug 5, 2019
KARS14Aug 5, 2019
KAT6B9Aug 5, 2019
KCNA52Aug 5, 2019
KCNE13Aug 5, 2019
KCNE22Aug 5, 2019
KCNE33Aug 5, 2019
KCNH215Aug 5, 2019
KCNJ25Aug 5, 2019
KCNK34Aug 5, 2019
KCNQ118Aug 5, 2019
KCNQ1-AS14Aug 5, 2019
KCNQ1OT12Aug 5, 2019
KCNQ22Aug 5, 2019
KCNQ42Aug 5, 2019
KCNT11Aug 5, 2019
KDM6A2Aug 5, 2019
KIAA07532Jun 30, 2017
KIF1A19Aug 5, 2019
KIF1B13Aug 5, 2019
KIF5A10Aug 5, 2019
KIZ1Aug 5, 2019
KLHL31Oct 10, 2018
KLHL71Aug 5, 2019
KLLN1Jun 30, 2017
KMT2D24Aug 5, 2019
KRAS3Oct 10, 2018
KRIT111Aug 5, 2019
LAMA420Aug 5, 2019
LAMA4-AS11Aug 5, 2019
LAMP21Oct 10, 2018
LARS26Aug 5, 2019
LBR13Aug 5, 2019
LCA54Aug 5, 2019
LDB311Aug 5, 2019
LDLRAD29Aug 5, 2019
LIFR22Aug 5, 2019
LIFR-AS11Aug 5, 2019
LIG41Aug 5, 2019
LINC006309Aug 5, 2019
LIPT21Aug 5, 2019
LITAF3Aug 5, 2019
LMBRD11Oct 10, 2018
LMNA17Aug 5, 2019
LOC10028958037Aug 5, 2019
LOC1005060716Aug 5, 2019
LOC1005073461Oct 10, 2018
LOC10144820217Aug 5, 2019
LOC1019270554Aug 5, 2019
LOC1019271573Aug 5, 2019
LOC1019280084Aug 5, 2019
LOC1019295241Oct 10, 2018
LOC10272356625Aug 5, 2019
LOC10537104941Aug 5, 2019
LOC10537156624Aug 5, 2019
LOC1053783111Aug 5, 2019
LOC106099062106Aug 5, 2019
LOC10680461244Aug 5, 2019
LOC10680461331Aug 5, 2019
LOC1070805551Aug 5, 2019
LOC107133510162Aug 5, 2019
LOC1071812881Aug 5, 2019
LOC10730333815Jun 30, 2017
LOC1073033406Aug 5, 2019
LOC1073033431Aug 5, 2019
LOC1079822342Aug 5, 2019
LOC1079880324Aug 5, 2019
LOC1080218464Aug 5, 2019
LOC1089031481Aug 5, 2019
LOC1096115893Aug 5, 2019
LOC11000631960Aug 5, 2019
LOC1101212692Aug 5, 2019
LOC1101214861Oct 10, 2018
LOC1108063061Jun 30, 2017
LOC1116744633Aug 5, 2019
LOC11167447225Aug 5, 2019
LOC1116744756Aug 5, 2019
LOC11167447712Aug 5, 2019
LOC1118119652Aug 5, 2019
LOC1124862231Jun 30, 2017
LOC1125774861Aug 5, 2019
LOC1126947563Aug 5, 2019
LOC1129975402Aug 5, 2019
LOC1136338771Aug 5, 2019
LOC1139399443Aug 5, 2019
LOC1148278501Jun 30, 2017
LOC1148278514Aug 5, 2019
LOX2Aug 5, 2019
LOXHD13Aug 5, 2019
LPIN237Aug 5, 2019
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LRPPRC8Aug 5, 2019
LRRC21Oct 10, 2018
LRRC565Aug 5, 2019
LRRC8A9Aug 5, 2019
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LRTOMT2Aug 5, 2019
LZTR12Aug 5, 2019
MAGEL21Aug 5, 2019
MALT12Aug 5, 2019
MAN2B11Jun 30, 2017
MAP2K12Aug 5, 2019
MAP2K28Aug 5, 2019
MAP3K144Aug 5, 2019
MAP3K14-AS11Aug 5, 2019
MARS111Aug 5, 2019
MASP12Aug 5, 2019
MAT1A1Oct 10, 2018
MCCC21Aug 5, 2019
MCEE2Aug 5, 2019
MECP228Aug 5, 2019
MED2510Aug 5, 2019
MEF2C1Aug 5, 2019
MEFV86Oct 30, 2019
MEN143Aug 5, 2019
MERTK12Aug 5, 2019
MET9Aug 5, 2019
MFF-DT1Aug 5, 2019
MFN213Aug 5, 2019
MHRT3Aug 5, 2019
MID11Aug 5, 2019
MILR12Aug 5, 2019
MIR6511B11Aug 5, 2019
MIR67951Aug 5, 2019
MLH130Aug 5, 2019
MMAA3Aug 5, 2019
MMAB5Aug 5, 2019
MMACHC6Aug 5, 2019
MMADHC1Oct 10, 2018
MMUT10Aug 5, 2019
MOGS3Aug 5, 2019
MORC22Aug 5, 2019
MPV171Oct 10, 2018
MPZ6Aug 5, 2019
MRE118Aug 5, 2019
MRPL361Aug 5, 2019
MRPS222Aug 5, 2019
MS4A12Aug 5, 2019
MSH244Aug 5, 2019
MSH37Aug 5, 2019
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MT-TS21Jun 30, 2017
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STRC6Aug 5, 2019
SUCLA23Aug 5, 2019
SUCLG16Aug 5, 2019
SUFU5Aug 5, 2019
SUOX4Aug 5, 2019
SUPT3H1Aug 5, 2019
SURF13Aug 5, 2019
SYNE151Aug 5, 2019
TAF103Aug 5, 2019
TARDBP1Aug 5, 2019
TARID2Aug 5, 2019
TAZ1Jun 30, 2017
TBC1D241May 27, 2015
TBCEL-TECTA18Aug 5, 2019
TBCK1Aug 5, 2019
TCAP3Aug 5, 2019
TCEA21Aug 5, 2019
TCF35Aug 5, 2019
TCIRG11Oct 10, 2018
TCN14Aug 5, 2019
TCN210Aug 5, 2019
TDGF11Oct 10, 2018
TDP14Aug 5, 2019
TECTA18Aug 5, 2019
TEK18Aug 5, 2019
TERC3Jun 30, 2017
TERT7Jun 30, 2017
TFG7Aug 5, 2019
TGFB210Aug 5, 2019
TGFB33Aug 5, 2019
TGFBR111Aug 5, 2019
TGFBR219Aug 5, 2019
TGIF15Aug 5, 2019
TINF22Jun 30, 2017
TK21Aug 5, 2019
TMC12Oct 10, 2018
TMEM1271Oct 10, 2018
TMEM437Aug 5, 2019
TMEM701Oct 10, 2018
TMIE2Aug 5, 2019
TMPO5Aug 5, 2019
TMPRSS38Aug 5, 2019
TNFAIP36Aug 5, 2019
TNFRSF13B17Aug 5, 2019
TNFRSF13C6Aug 5, 2019
TNFRSF1A21Aug 5, 2019
TNNC11Aug 5, 2019
TNNI31Aug 5, 2019
TNNT28Aug 5, 2019
TOE11Aug 5, 2019
TOPORS4Aug 5, 2019
TP5332Feb 6, 2020
TPI12Aug 5, 2019
TPM13Aug 5, 2019
TPRN5Aug 5, 2019
TRB39Aug 5, 2019
TRDN3Aug 5, 2019
TRIM25Aug 5, 2019
TRIM59-IFT8010Aug 5, 2019
TRIOBP8Aug 5, 2019
TRIP1133Aug 5, 2019
TRMU4Aug 5, 2019
TRPM418Aug 5, 2019
TRPV427Aug 5, 2019
TSC116Aug 5, 2019
TSC234Aug 5, 2019
TSPAN71Oct 10, 2018
TTC21B24Aug 5, 2019
TTC21B-AS13Aug 5, 2019
TTC372Aug 5, 2019
TTC83Aug 5, 2019
TTN226Aug 5, 2019
TTN-AS1120Aug 5, 2019
TTR23Aug 5, 2019
TUFM2Aug 5, 2019
TULP17Aug 5, 2019
TWNK2Aug 5, 2019
TYMP4Aug 5, 2019
UBE2A1Jun 30, 2017
UBE3A1Oct 10, 2018
UGT1A29Aug 5, 2019
UGT1A19Aug 5, 2019
UGT1A1029Aug 5, 2019
UGT1A39Aug 5, 2019
UGT1A49Aug 5, 2019
UGT1A59Aug 5, 2019
UGT1A617Aug 5, 2019
UGT1A728Aug 5, 2019
UGT1A829Aug 5, 2019
UGT1A929Aug 5, 2019
UNG1Oct 10, 2018
UQCRB1Aug 5, 2019
UQCRQ1Oct 10, 2018
USH1C11Aug 5, 2019
USH1G4Aug 5, 2019
USH2A78Aug 5, 2019
USH2A-AS16Aug 5, 2019
USH2A-AS22Aug 5, 2019
VAV111Aug 5, 2019
VCL12Aug 5, 2019
VCP2Jun 30, 2017
VHL9Aug 5, 2019
VRK22Jun 30, 2017
VWF66Aug 5, 2019
WAC1Aug 5, 2019
WASHC41Oct 10, 2018
WDR1925Aug 5, 2019
WDR3518Aug 5, 2019
WFS138Aug 5, 2019
WHRN11Aug 5, 2019
WNK115Aug 5, 2019
WRAP536Jun 30, 2017
WT12Aug 5, 2019
XBP11Aug 5, 2019
XIAP2Aug 5, 2019
YARS14Aug 5, 2019
YARS21Oct 10, 2018
ZBTB242Aug 5, 2019
ZIC23Aug 5, 2019
ZNF2762Jun 30, 2017
ZNF518A2Jun 30, 2017

Condition

NameSubmissionsLast Updated
3-methylcrotonyl CoA carboxylase 2 deficiency1Aug 5, 2019
3-methylglutaconic aciduria type 91Aug 5, 2019
3MC syndrome 11Aug 5, 2019
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 2410Aug 5, 2019
Acetyl-CoA: carboxylase deficiency1Aug 5, 2019
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins2Aug 5, 2019
Acyl-CoA dehydrogenase family, member 9, deficiency of2Aug 5, 2019
Adenylate kinase deficiency, hemolytic anemia due to5Aug 5, 2019
Agammaglobulinemia 2, autosomal recessive7Aug 5, 2019
Agammaglobulinemia 4, autosomal recessive3Aug 5, 2019
Agammaglobulinemia 5, autosomal dominant7Aug 5, 2019
Agammaglobulinemia 8, autosomal dominant5Aug 5, 2019
Agammaglobulinemia, non-Bruton type4Aug 5, 2019
Agenesis of the corpus callosum with peripheral neuropathy3Aug 5, 2019
Alport syndrome 1, X-linked recessive7Aug 5, 2019
Amyotrophic lateral sclerosis type 11Aug 5, 2019
Aortic aneurysm, familial thoracic 102Aug 5, 2019
Aortic aneurysm, familial thoracic 448Aug 5, 2019
Aortic aneurysm, familial thoracic 729Aug 5, 2019
Aortic aneurysm, familial thoracic 87Aug 5, 2019
Arrhythmogenic right ventricular dysplasia 97Aug 5, 2019
Arterial tortuosity syndrome9Aug 5, 2019
Asperger syndrome X-linked 22Aug 5, 2019
Asphyxiating thoracic dystrophy 25Aug 5, 2019
Ataxia-oculomotor apraxia type 13Aug 5, 2019
Ataxia-telangiectasia syndrome31Aug 5, 2019
Ataxia-telangiectasia-like disorder 11Aug 5, 2019
Atrial fibrillation, familial, 72Aug 5, 2019
Autism, susceptibility to, 181Aug 5, 2019
Autoimmune lymphoproliferative syndrome, type III2Aug 5, 2019
Autoinflammatory syndrome, familial, Behcet-like6Aug 5, 2019
Autosomal dominant nonsyndromic deafness 2A1Aug 5, 2019
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 41Aug 5, 2019
Autosomal recessive axonal neuropathy with neuromyotonia2Aug 5, 2019
Autosomal recessive cutis laxa type 1B9Aug 5, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2D2Aug 5, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2E1Aug 5, 2019
Biotinidase deficiency6Aug 5, 2019
Bone fragility with contractures, arterial rupture, and deafness11Aug 5, 2019
Breast-ovarian cancer, familial 43Aug 5, 2019
Brugada syndrome 21Aug 5, 2019
Brugada syndrome 44Aug 5, 2019
Brugada syndrome 63Aug 5, 2019
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 22Aug 5, 2019
Cardiofaciocutaneous syndrome 32Aug 5, 2019
Cardiofaciocutaneous syndrome 47Aug 5, 2019
Carnitine palmitoyltransferase I deficiency2Aug 5, 2019
Cerebral cavernous malformations 29Aug 5, 2019
Charcot-Marie-Tooth disease type 2P3Aug 5, 2019
Charcot-Marie-Tooth disease, axonal, type 2R2Aug 5, 2019
Charcot-Marie-Tooth disease, axonal, type 2z2Aug 5, 2019
Charcot-Marie-Tooth disease, dominant intermediate C3Aug 5, 2019
Charcot-Marie-Tooth disease, type 1C2Aug 5, 2019
Charcot-Marie-Tooth disease, type 4B12Aug 5, 2019
Charcot-Marie-Tooth disease, type 4B27Aug 5, 2019
Charcot-Marie-Tooth disease, type 4B322Aug 5, 2019
Charcot-Marie-Tooth disease, type 4D1Aug 5, 2019
Charcot-Marie-Tooth disease, type 4H4Aug 5, 2019
Charcot-Marie-Tooth disease, type 4k2Aug 5, 2019
Choroideremia2Aug 5, 2019
Chudley-McCullough syndrome3Aug 5, 2019
Citrullinemia type I3Aug 5, 2019
Cocoon syndrome1Aug 5, 2019
Coenzyme Q10 deficiency, primary, 42Aug 5, 2019
Coenzyme Q10 deficiency, primary, 51Aug 5, 2019
Combined malonic and methylmalonic aciduria4Aug 5, 2019
Combined oxidative phosphorylation deficiency 13Aug 5, 2019
Combined oxidative phosphorylation deficiency 42Aug 5, 2019
Common variable immunodeficiency 14Aug 5, 2019
Common variable immunodeficiency 102Aug 5, 2019
Common variable immunodeficiency 36Aug 5, 2019
Common variable immunodeficiency 44Aug 5, 2019
Common variable immunodeficiency 52Aug 5, 2019
Common variable immunodeficiency 61Aug 5, 2019
Common variable immunodeficiency 8, with autoimmunity5Aug 5, 2019
Congenital disorder of glycosylation type 2B3Aug 5, 2019
Congenital dyserythropoietic anemia, type I2Aug 5, 2019
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type3Aug 5, 2019
Congenital muscular hypertrophy-cerebral syndrome1Aug 5, 2019
Congenital sensory neuropathy with selective loss of small myelinated fibers2Aug 5, 2019
Creatine transporter deficiency1Aug 5, 2019
Cystinuria4Aug 5, 2019
Deafness, X-linked 24Aug 5, 2019
Deafness, autosomal dominant 151Aug 5, 2019
Deafness, autosomal dominant 4b3Aug 5, 2019
Deafness, autosomal recessive 151Aug 5, 2019
Deafness, autosomal recessive 161Aug 5, 2019
Deafness, autosomal recessive 222Aug 5, 2019
Deafness, autosomal recessive 285Aug 5, 2019
Deafness, autosomal recessive 291Aug 5, 2019
Deafness, autosomal recessive 316Aug 5, 2019
Deafness, autosomal recessive 302Aug 5, 2019
Deafness, autosomal recessive 352Aug 5, 2019
Deafness, autosomal recessive 36, with or without vestibular involvement3Aug 5, 2019
Deafness, autosomal recessive 62Aug 5, 2019
Deafness, autosomal recessive 611Aug 5, 2019
Deafness, autosomal recessive 632Aug 5, 2019
Deafness, autosomal recessive 773Aug 5, 2019
Deafness, autosomal recessive 793Aug 5, 2019
Deafness, autosomal recessive 85Aug 5, 2019
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase17Aug 5, 2019
Deficiency of butyryl-CoA dehydrogenase3Aug 5, 2019
Deficiency of guanidinoacetate methyltransferase1Aug 5, 2019
Desanto-shinawi syndrome1Aug 5, 2019
Dilated cardiomyopathy 1DD5Aug 5, 2019
Dilated cardiomyopathy 1JJ15Aug 5, 2019
Distal hereditary motor neuronopathy type 2C2Aug 5, 2019
Early infantile epileptic encephalopathy 91Aug 5, 2019
Ectodermal dysplasia and immunodeficiency 22Aug 5, 2019
Ehlers-Danlos syndrome classic type 223Aug 5, 2019
Ehlers-Danlos syndrome, classic type40Aug 5, 2019
Ehlers-Danlos syndrome, hydroxylysine-deficient26Aug 5, 2019
Elliptocytosis 16Aug 5, 2019
Episodic pain syndrome, familial, 22Aug 5, 2019
Ethylmalonic encephalopathy1Aug 5, 2019
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis1Aug 5, 2019
Familial Mediterranean fever1Oct 30, 2019
Familial adenomatous polyposis 31Aug 5, 2019
Familial cold autoinflammatory syndrome 219Aug 5, 2019
Familial dysautonomia15Aug 5, 2019
Familial hypertrophic cardiomyopathy 15Aug 5, 2019
Familial hypertrophic cardiomyopathy 102Aug 5, 2019
Familial hypertrophic cardiomyopathy 161Aug 5, 2019
Familial hypertrophic cardiomyopathy 173Aug 5, 2019
Familial hypertrophic cardiomyopathy 81Aug 5, 2019
Familial platelet disorder with associated myeloid malignancy1Aug 5, 2019
Fanconi anemia, complementation group I1Aug 5, 2019
Fanconi anemia, complementation group J11Aug 5, 2019
Giant axonal neuropathy 12Aug 5, 2019
Glomuvenous malformations5Aug 5, 2019
Glycogen storage disease, type II15Aug 5, 2019
Glycogen storage disease, type VII6Aug 5, 2019
HNSHA due to aldolase A deficiency2Aug 5, 2019
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency3Aug 5, 2019
Hennekam lymphangiectasia-lymphedema syndrome 13Aug 5, 2019
Hereditary factor VIII deficiency disease61Aug 5, 2019
Hereditary hemorrhagic telangiectasia type 142Dec 10, 2019
Hereditary pancreatitis38Aug 5, 2019
Hereditary sensory and autonomic neuropathy type IC1Aug 5, 2019
Hereditary sensory and autonomic neuropathy type IIB4Aug 5, 2019
Hereditary spastic paraplegia 73Aug 5, 2019
Heterotopia, periventricular, autosomal recessive1Aug 5, 2019
Holoprosencephaly 111Aug 5, 2019
Holoprosencephaly 42Aug 5, 2019
Holoprosencephaly 52Aug 5, 2019
Hydrocephalus, congenital, 2, with or without brain or eye anomalies1Jun 28, 2017
Hyper-IgM syndrome type 34Aug 5, 2019
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome2Aug 5, 2019
Hypogonadotropic hypogonadism 6 with or without anosmia1Aug 5, 2019
Hypotonia, infantile, with psychomotor retardation and characteristic facies 31Aug 5, 2019
IMMUNODEFICIENCY, COMMON VARIABLE, 143Aug 5, 2019
Imerslund-Gräsbeck syndrome16Aug 5, 2019
Immunodeficiency 122Aug 5, 2019
Immunodeficiency 149Aug 5, 2019
Immunodeficiency 26 with or without neurologic abnormalities3Aug 5, 2019
Immunodeficiency, common variable, 131Aug 5, 2019
Immunodeficiency-centromeric instability-facial anomalies syndrome 13Aug 5, 2019
Immunodeficiency-centromeric instability-facial anomalies syndrome 22Aug 5, 2019
Immunodeficiency-centromeric instability-facial anomalies syndrome 41Aug 5, 2019
Intellectual disability, autosomal dominant 521Feb 13, 2018
Intellectual disability, autosomal dominant 561Aug 5, 2019
Isolated sulfite oxidase deficiency1Aug 5, 2019
Kabuki syndrome 120Aug 5, 2019
Kabuki syndrome 22Aug 5, 2019
Lathosterolosis1Aug 5, 2019
Leber congenital amaurosis 122Aug 5, 2019
Leber congenital amaurosis 131Aug 5, 2019
Leber congenital amaurosis 54Aug 5, 2019
Leber congenital amaurosis 92Aug 5, 2019
Left ventricular noncompaction 14Aug 5, 2019
Legius syndrome4Aug 5, 2019
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome2Aug 5, 2019
Li-Fraumeni syndrome 11Feb 6, 2020
Lig4 syndrome1Aug 5, 2019
Loeys-Dietz syndrome 37Aug 5, 2019
Loeys-Dietz syndrome 47Aug 5, 2019
Long QT syndrome 1114Aug 5, 2019
Long QT syndrome 125Aug 5, 2019
Lymphoproliferative syndrome 2, X-linked2Aug 5, 2019
Majeed syndrome28Aug 5, 2019
Major affective disorder 71Aug 5, 2019
Maple syrup urine disease4Aug 5, 2019
Maple syrup urine disease, type 34Aug 5, 2019
Medium-chain acyl-coenzyme A dehydrogenase deficiency86Aug 5, 2019
Mental retardation, X-linked 11Aug 5, 2019
Mental retardation, X-linked, syndromic, Turner type1Aug 5, 2019
Mental retardation, autosomal dominant 211Aug 5, 2019
Methylmalonic acidemia with homocystinuria1Aug 5, 2019
Methylmalonyl-CoA epimerase deficiency1Aug 5, 2019
Microcephalic osteodysplastic primordial dwarfism type II17Aug 5, 2019
Mitochondrial DNA depletion syndrome 1 (MNGIE type)4Aug 5, 2019
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)1Aug 5, 2019
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)1Aug 5, 2019
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)2Aug 5, 2019
Mitochondrial complex 1 deficiency, nuclear type 101Aug 5, 2019
Mitochondrial complex 1 deficiency, nuclear type 111Aug 5, 2019
Mitochondrial complex 1 deficiency, nuclear type 151Aug 5, 2019
Mitochondrial complex 1 deficiency, nuclear type 162Aug 5, 2019
Mitochondrial complex 1 deficiency, nuclear type 52Aug 5, 2019
Mitochondrial complex 1 deficiency, nuclear type 63Aug 5, 2019
Mitochondrial complex 1 deficiency, nuclear type 72Aug 5, 2019
Mitochondrial complex 1 deficiency, nuclear type 81Aug 5, 2019
Mitochondrial complex 1 deficiency, nuclear type 91Aug 5, 2019
Mitochondrial complex III deficiency, nuclear type 31Aug 5, 2019
Moyamoya disease 21Aug 5, 2019
Mucopolysaccharidosis, MPS-IV-A1Aug 5, 2019
Multiple acyl-CoA dehydrogenase deficiency1Aug 5, 2019
Multiple endocrine neoplasia, type 117Aug 5, 2019
Multiple endocrine neoplasia, type 42Aug 5, 2019
Myasthenic syndrome, congenital, 221Aug 5, 2019
Myoclonic epilepsy, familial infantile1May 27, 2015
Myopathy, lactic acidosis, and sideroblastic anemia 11Aug 5, 2019
Neuroblastoma 36Aug 5, 2019
Neuropathy, hereditary sensory and autonomic, type 1A6Aug 5, 2019
Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive2Aug 5, 2019
Neutrophil immunodeficiency syndrome1Aug 5, 2019
Noonan syndrome62Jan 27, 2015
Noonan syndrome 81Aug 5, 2019
Noonan syndrome 95Aug 5, 2019
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia5Aug 5, 2019
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 12Aug 5, 2019
Opitz GBBB syndrome, type I1Aug 5, 2019
Ornithine carbamoyltransferase deficiency5Aug 5, 2019
Osteogenesis imperfecta type 78Aug 5, 2019
Osteogenesis imperfecta type 814Aug 5, 2019
Osteogenesis imperfecta type 93Aug 5, 2019
Pancreatitis1Oct 26, 2017
Parkinson disease 6, autosomal recessive early-onset3Aug 5, 2019
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial1Aug 5, 2019
Phosphoglycerate kinase 1 deficiency2Aug 5, 2019
Polycystic kidney disease 237Aug 5, 2019
Polycystic kidney disease, adult type244Aug 5, 2019
Pontocerebellar hypoplasia type 62Aug 5, 2019
Preeclampsia/eclampsia 51Aug 5, 2019
Primary autosomal recessive microcephaly 31Aug 5, 2019
Primary pulmonary hypertension 25Aug 5, 2019
Primary pulmonary hypertension 43Aug 5, 2019
Progressive familial heart block type IB13Aug 5, 2019
Propionic acidemia3Aug 5, 2019
Pulmonary venoocclusive disease 2, autosomal recessive20Aug 5, 2019
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome31Aug 5, 2019
Pyruvate carboxylase deficiency3Aug 5, 2019
Pyruvate dehydrogenase E2 deficiency2Aug 5, 2019
Pyruvate dehydrogenase E3-binding protein deficiency2Aug 5, 2019
Renal carnitine transport defect17Aug 5, 2019
Retinitis pigmentosa 114Aug 5, 2019
Retinitis pigmentosa 112Aug 5, 2019
Retinitis pigmentosa 137Aug 5, 2019
Retinitis pigmentosa 171Aug 5, 2019
Retinitis pigmentosa 22Aug 5, 2019
Retinitis pigmentosa 2518Aug 5, 2019
Retinitis pigmentosa 262Aug 5, 2019
Retinitis pigmentosa 272Aug 5, 2019
Retinitis pigmentosa 282Aug 5, 2019
Retinitis pigmentosa 303Aug 5, 2019
Retinitis pigmentosa 313Aug 5, 2019
Retinitis pigmentosa 338Aug 5, 2019
Retinitis pigmentosa 388Aug 5, 2019
Retinitis pigmentosa 438Aug 5, 2019
Retinitis pigmentosa 441Aug 5, 2019
Retinitis pigmentosa 4515Aug 5, 2019
Retinitis pigmentosa 481Aug 5, 2019
Retinitis pigmentosa 493Aug 5, 2019
Retinitis pigmentosa 691Aug 5, 2019
Retinitis pigmentosa 71Aug 5, 2019
Rhizomelic chondrodysplasia punctata type 26Aug 5, 2019
Rhizomelic chondrodysplasia punctata type 36Aug 5, 2019
Schaaf-Yang syndrome1Aug 5, 2019
Schneckenbecken dysplasia1Aug 5, 2019
Severe autosomal recessive muscular dystrophy of childhood - North African type4Aug 5, 2019
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay1Jan 15, 2020
Shprintzen-Goldberg syndrome15Aug 5, 2019
Slowed nerve conduction velocity, autosomal dominant8Aug 5, 2019
Smith-Lemli-Opitz syndrome14Aug 5, 2019
Spherocytosis type 124Aug 5, 2019
Spherocytosis type 41Jun 16, 2020
Spherocytosis type 59Aug 5, 2019
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 12Aug 5, 2019
Spondylocostal dysostosis 1, autosomal recessive15Aug 5, 2019
Stüve-Wiedemann syndrome17Aug 5, 2019
Succinyl-CoA acetoacetate transferase deficiency3Aug 5, 2019
Syndromic X-linked mental retardation, Cabezas type1Aug 5, 2019
Telangiectasia, hereditary hemorrhagic, type 247Aug 5, 2019
Thrombocytopenia 41Aug 5, 2019
Transcolabamin II deficiency4Aug 5, 2019
Trichohepatoenteric syndrome 12Aug 5, 2019
Triosephosphate isomerase deficiency1Aug 5, 2019
Tumor susceptibility linked to germline BAP1 mutations3Aug 5, 2019
Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to3Aug 5, 2019
Usher syndrome, type 1G2Aug 5, 2019
Ventricular tachycardia, catecholaminergic polymorphic, 25Aug 5, 2019
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness3Aug 5, 2019
Very long chain acyl-CoA dehydrogenase deficiency45Aug 5, 2019
Visceral heterotaxy 5, autosomal1Aug 5, 2019
Vitamin B12-responsive methylmalonic acidemia type cblA2Aug 5, 2019
Vitamin B12-responsive methylmalonic acidemia type cblB2Aug 5, 2019
Wilson disease60Aug 5, 2019
X-linked chondrodysplasia punctata 18Aug 5, 2019
X-linked hereditary motor and sensory neuropathy3Aug 5, 2019
X-linked hyper-IgM syndrome1Aug 5, 2019
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency1Aug 5, 2019
not provided2495Oct 10, 2018
not specified5809Aug 5, 2019

Testing in GTR

Disease nameNumber of tests
3-Methylglutaconic aciduria type 21 test
ANKRD1-related dilated cardiomyopathy1 test
Abacavir hypersensitivity1 test
Achondrogenesis type II2 tests
Achondrogenesis, type IA2 tests
Achondrogenesis, type IB2 tests
Achondroplasia4 tests
Acromicric dysplasia3 tests
Acute neuronopathic Gaucher's disease2 tests
Adenosine deaminase, elevated, hemolytic anemia due to1 test
Adenylate kinase deficiency, hemolytic anemia due to1 test
Adrenoleukodystrophy3 tests
Agammaglobulinemia 2, autosomal recessive1 test
Agammaglobulinemia 3, autosomal recessive1 test
Agammaglobulinemia 4, autosomal recessive1 test
Agammaglobulinemia 5, autosomal dominant1 test
Agammaglobulinemia 6, autosomal recessive1 test
Agammaglobulinemia 7, autosomal recessive1 test
Agammaglobulinemia, non-Bruton type1 test
Agenesis of the corpus callosum with peripheral neuropathy2 tests
Allopurinol response1 test
Alpha-1-antitrypsin deficiency1 test
Alport syndrome 1, X-linked recessive3 tests
Alzheimer disease2 tests
Aminoglycoside-induced deafness1 test
Amyloidogenic transthyretin amyloidosis2 tests
Andersen Tawil syndrome1 test
Anemia, nonspherocytic hemolytic, due to G6PD deficiency1 test
Angelman syndrome3 tests
Angelman syndrome-like3 tests
Ankylosing spondylitis1 test
Antley-Bixler syndrome2 tests
Aortic aneurysm, familial thoracic 41 test
Aortic aneurysm, familial thoracic 61 test
Aortic aneurysm, familial thoracic 71 test
Aortic aneurysm, familial thoracic 81 test
Arginine:glycine amidinotransferase deficiency1 test
Arrhythmogenic right ventricular cardiomyopathy1 test
Arrhythmogenic right ventricular cardiomyopathy, type 101 test
Arrhythmogenic right ventricular cardiomyopathy, type 111 test
Arrhythmogenic right ventricular cardiomyopathy, type 121 test
Arrhythmogenic right ventricular cardiomyopathy, type 51 test
Arrhythmogenic right ventricular dysplasia 81 test
Arrhythmogenic right ventricular dysplasia 91 test
Arrhythmogenic right ventricular dysplasia, familial 11 test
Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair1 test
Arrhythmogenic right ventricular dysplasia, familial, 21 test
Arterial tortuosity syndrome1 test
Ashkenazi Jewish disorders1 test
Asphyxiating thoracic dystrophy 22 tests
Asphyxiating thoracic dystrophy 42 tests
Ataxia-telangiectasia syndrome2 tests
Ataxia-telangiectasia-like disorder 11 test
Atazanavir response1 test
Atelosteogenesis2 tests
Atrial fibrillation, familial, 101 test
Atrial fibrillation, familial, 121 test
Atrial fibrillation, familial, 131 test
Atrial fibrillation, familial, 141 test
Atrial fibrillation, familial, 31 test
Atrial fibrillation, familial, 91 test
Attenuated familial adenomatous polyposis1 test
Atypical Rett syndrome3 tests
Autism spectrum disorder1 test
Autism, susceptibility to, X-linked 31 test
Autoimmune lymphoproliferative syndrome, type III1 test
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated1 test
Autosomal dominant nonsyndromic deafness 61 test
Autosomal recessive axonal neuropathy with neuromyotonia2 tests
Autosomal recessive cutis laxa type 1B1 test
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome1 test
Autosomal recessive limb-girdle muscular dystrophy type 2D1 test
Autosomal recessive limb-girdle muscular dystrophy type 2E1 test
Autosomal recessive limb-girdle muscular dystrophy type 2F1 test
Autosomal recessive limb-girdle muscular dystrophy type 2G1 test
Bannayan-Riley-Ruvalcaba syndrome4 tests
Becker muscular dystrophy5 tests
Bent bone dysplasia syndrome2 tests
Beta thalassemia intermedia2 tests
Beta thalassemia major2 tests
Beta thalassemia minor2 tests
Biotinidase deficiency1 test
Blepharophimosis - intellectual disability syndrome, SBBYS type2 tests
Bloom syndrome2 tests
Bone fragility with contractures, arterial rupture, and deafness1 test
Breast cancer, early-onset3 tests
Breast cancer, familial male3 tests
Breast cancer, susceptibility to3 tests
Breast-ovarian cancer, familial 13 tests
Breast-ovarian cancer, familial 22 tests
Breast-ovarian cancer, familial 32 tests
Breast-ovarian cancer, familial 42 tests
Bronchiectasis with or without elevated sweat chloride 16 tests
Brugada syndrome1 test
Brugada syndrome 11 test
Brugada syndrome 21 test
Brugada syndrome 31 test
Brugada syndrome 41 test
Brugada syndrome 51 test
Brugada syndrome 61 test
Brugada syndrome 71 test
CHARGE association2 tests
COLORECTAL CANCER2 tests
CYP2C19-related poor drug metabolism1 test
Camptomelic dysplasia2 tests
Capillary malformation-arteriovenous malformation 16 tests
Capillary malformation-arteriovenous malformation 22 tests
Carcinoma of colon1 test
Cardiac arrhythmia, ankyrin B-related1 test
Cardiac valvular dysplasia, X-linked1 test
Cardiofaciocutaneous syndrome 12 tests
Cardiomyopathy1 test
Carney-Stratakis syndrome1 test
Catecholaminergic polymorphic ventricular tachycardia1 test
Celiac disease1 test
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 11 test
Cerebral cavernous malformation3 tests
Cerebral cavernous malformations 12 tests
Cerebral cavernous malformations 22 tests
Cerebral cavernous malformations 32 tests
Cerebral creatine deficiency syndrome2 tests
Charcot-Marie-Tooth Neuropathy X2 tests
Charcot-Marie-Tooth disease3 tests
Charcot-Marie-Tooth disease type 2B11 test
Charcot-Marie-Tooth disease type 42 tests
Charcot-Marie-Tooth disease, dominant intermediate B2 tests
Charcot-Marie-Tooth disease, type 22 tests
Charcot-Marie-Tooth disease, type I3 tests
Charcot-Marie-Tooth disease, type IA3 tests
Chondrodysplasia punctata2 tests
Chronic infantile neurological, cutaneous and articular syndrome1 test
Chronic obstructive pulmonary disease1 test
Citrin deficiency1 test
Citrullinemia type I1 test
Citrullinemia type II1 test
Classic homocystinuria2 tests
Cleidocranial dysostosis2 tests
Combined malonic and methylmalonic aciduria1 test
Common variable immunodeficiency1 test
Common variable immunodeficiency 11 test
Common variable immunodeficiency 101 test
Common variable immunodeficiency 22 tests
Common variable immunodeficiency 31 test
Common variable immunodeficiency 41 test
Common variable immunodeficiency 51 test
Common variable immunodeficiency 61 test
Common variable immunodeficiency 71 test
Common variable immunodeficiency 8, with autoimmunity1 test
Congenital bilateral aplasia of vas deferens from CFTR mutation6 tests
Congenital contractural arachnodactyly1 test
Congenital hemolytic anemia1 test
Congenital muscular dystrophy, LMNA-related1 test
Congenital plasminogen activator inhibitor type 1 deficiency1 test
Congenital sensory neuropathy with selective loss of small myelinated fibers2 tests
Costello syndrome2 tests
Cowden syndrome1 test
Cowden syndrome 15 tests
Cranioectodermal dysplasia2 tests
Creatine transporter deficiency3 tests
Crigler-Najjar syndrome type 11 test
Crigler-Najjar syndrome, type II1 test
Curry-Hall syndrome2 tests
Cutaneous melanoma1 test
Cutis laxa, X-linked3 tests
Cyclical neutropenia1 test
Cystic fibrosis9 tests
Czech dysplasia, metatarsal type2 tests
DRUG METABOLISM, ALTERED, CYP2C8-RELATED2 tests
Danon disease1 test
Deafness, autosomal dominant 3a2 tests
Deafness, autosomal recessive 1A3 tests
Deafness, autosomal recessive 1b2 tests
Deafness, nonsyndromic sensorineural, mitochondrial1 test
Debrisoquine, poor metabolism of2 tests
Debrisoquine, ultrarapid metabolism of2 tests
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase3 tests
Deficiency of cytochrome-b5 reductase1 test
Deficiency of guanidinoacetate methyltransferase1 test
Desmoid disease, hereditary2 tests
Diastrophic dysplasia2 tests
Dihydropyrimidine dehydrogenase deficiency1 test
Dilated cardiomyopathy 1A2 tests
Dilated cardiomyopathy 1AA1 test
Dilated cardiomyopathy 1BB1 test
Dilated cardiomyopathy 1C1 test
Dilated cardiomyopathy 1CC1 test
Dilated cardiomyopathy 1DD1 test
Dilated cardiomyopathy 1EE1 test
Dilated cardiomyopathy 1G1 test
Dilated cardiomyopathy 1I1 test
Dilated cardiomyopathy 1J1 test
Dilated cardiomyopathy 1JJ1 test
Dilated cardiomyopathy 1KK1 test
Dilated cardiomyopathy 1L1 test
Dilated cardiomyopathy 1M1 test
Dilated cardiomyopathy 1O1 test
Dilated cardiomyopathy 1P1 test
Dilated cardiomyopathy 1R1 test
Dilated cardiomyopathy 1S1 test
Dilated cardiomyopathy 1T1 test
Dilated cardiomyopathy 1W1 test
Dilated cardiomyopathy 1X1 test
Dilated cardiomyopathy 1Y1 test
Dilated cardiomyopathy 1Z1 test
Dilated cardiomyopathy 2A1 test
Dilated cardiomyopathy 3B1 test
Dilated cardiomyopathy with woolly hair and keratoderma1 test
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome1 test
Disorder due cytochrome p450 CYP2C19 variant2 tests
Disorder due cytochrome p450 CYP2C9 variant2 tests
Disorder due cytochrome p450 CYP2D6 variant2 tests
Disorders of Intracellular Cobalamin Metabolism1 test
Distal hereditary motor neuronopathy2 tests
Distal myopathy, Tateyama type1 test
Distal spinal muscular atrophy, X-linked 35 tests
Drug metabolism or response2 tests
Duchenne muscular dystrophy5 tests
Dystrophinopathies4 tests
Early infantile epileptic encephalopathy 23 tests
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant1 test
Ectodermal dysplasia and immunodeficiency 12 tests
Ectodermal dysplasia and immunodeficiency 21 test
Ectopia lentis, isolated, autosomal dominant3 tests
Ehlers-Danlos syndrome, classic type1 test
Ehlers-Danlos syndrome, hydroxylysine-deficient3 tests
Ehlers-Danlos syndrome, type 41 test
Ellis-van Creveld syndrome2 tests
Emery-Dreifuss muscular dystrophy 1, X-linked1 test
Emery-Dreifuss muscular dystrophy 2, autosomal dominant3 tests
Emery-Dreifuss muscular dystrophy 4, autosomal dominant1 test
Emery-Dreifuss muscular dystrophy 7, autosomal dominant1 test
Endometrial carcinoma1 test
Erythrocyte Alloimmunization1 test
Fabry disease1 test
Familial Mediterranean fever2 tests
Familial adenomatous polyposis 15 tests
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial atrial fibrillation1 test
Familial cancer of breast5 tests
Familial cold autoinflammatory syndrome1 test
Familial cold autoinflammatory syndrome 31 test
Familial dysautonomia4 tests
Familial hypercholesterolemia1 test
Familial hypertrophic cardiomyopathy 11 test
Familial hypertrophic cardiomyopathy 101 test
Familial hypertrophic cardiomyopathy 111 test
Familial hypertrophic cardiomyopathy 121 test
Familial hypertrophic cardiomyopathy 131 test
Familial hypertrophic cardiomyopathy 141 test
Familial hypertrophic cardiomyopathy 151 test
Familial hypertrophic cardiomyopathy 161 test
Familial hypertrophic cardiomyopathy 171 test
Familial hypertrophic cardiomyopathy 181 test
Familial hypertrophic cardiomyopathy 21 test
Familial hypertrophic cardiomyopathy 201 test
Familial hypertrophic cardiomyopathy 31 test
Familial hypertrophic cardiomyopathy 41 test
Familial hypertrophic cardiomyopathy 61 test
Familial hypertrophic cardiomyopathy 71 test
Familial hypertrophic cardiomyopathy 81 test
Familial hypertrophic cardiomyopathy 91 test
Familial medullary thyroid carcinoma1 test
Familial partial lipodystrophy 21 test
Familial restrictive cardiomyopathy1 test
Familial restrictive cardiomyopathy 11 test
Familial restrictive cardiomyopathy 31 test
Familial type 3 hyperlipoproteinemia1 test
Fanconi anemia, complementation group C2 tests
Fanconi anemia, complementation group J1 test
Fanconi anemia, complementation group N1 test
Fanconi anemia, complementation group O1 test
Fatty liver disease, nonalcoholic 11 test
Fatty liver disease, nonalcoholic 21 test
Fentanyl response1 test
Fetal hemoglobin quantitative trait locus 13 tests
Fluorouracil response1 test
Fragile X syndrome3 tests
Fragile X tremor/ataxia syndrome2 tests
Frontometaphyseal dysplasia 12 tests
Fukuyama congenital muscular dystrophy1 test
Galactosemia2 tests
Gardner syndrome1 test
Gaucher disease2 tests
Gaucher disease type 3C2 tests
Gaucher disease, atypical, due to saposin C deficiency1 test
Gaucher disease, perinatal lethal2 tests
Gaucher's disease, type 12 tests
Geleophysic dysplasia 23 tests
Genetic prion diseases2 tests
Giant axonal neuropathy 12 tests
Gilbert syndrome, susceptibility to1 test
Gilbert's syndrome1 test
Gingival fibromatosis 11 test
Glomuvenous malformations1 test
Glucose 6 phosphate dehydrogenase deficiency2 tests
Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to1 test
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA2 tests
Glycogen storage disease, type II1 test
Glycogen storage disease, type VII1 test
Gorlin syndrome1 test
Greenberg dysplasia2 tests
Greig cephalopolysyndactyly syndrome3 tests
HNSHA due to aldolase A deficiency1 test
Hb SS disease6 tests
Heart-hand syndrome, Slovenian type1 test
Heinz body anemia2 tests
Hemochromatosis type 11 test
Hemoglobin H disease2 tests
Hemoglobin H disease, nondeletional1 test
Hemoglobin Lepore trait1 test
Hemoglobinopathy3 tests
Hemolytic anemia1 test
Hemolytic anemia due to hexokinase deficiency1 test
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency1 test
Hemolytic disease of fetus OR newborn due to isoimmunization5 tests
Hemophilia2 tests
Hemophilia B Brandenburg1 test
Hemophilia B Leyden1 test
Hemophilia b(m)2 tests
Hepatic methionine adenosyltransferase deficiency1 test
Hepatitis C virus infection, response to therapy of1 test
Hereditary Paraganglioma-Pheochromocytoma Syndromes6 tests
Hereditary breast and ovarian cancer syndrome5 tests
Hereditary cancer-predisposing syndrome2 tests
Hereditary diffuse gastric cancer3 tests
Hereditary disease3 tests
Hereditary elliptocytosis1 test
Hereditary factor IX deficiency disease3 tests
Hereditary factor VIII deficiency disease5 tests
Hereditary hearing loss and deafness1 test
Hereditary hemorrhagic telangiectasia type 16 tests
Hereditary insensitivity to pain with anhidrosis2 tests
Hereditary leiomyomatosis and renal cell cancer1 test
Hereditary liability to pressure palsies3 tests
Hereditary motor and sensory neuropathy2 tests
Hereditary nonpolyposis colorectal cancer type 41 test
Hereditary nonpolyposis colorectal cancer type 52 tests
Hereditary nonpolyposis colorectal cancer type 81 test
Hereditary pancreatitis12 tests
Hereditary pyropoikilocytosis1 test
Hereditary sensory and autonomic neuropathy type 12 tests
Hereditary sensory and autonomic neuropathy type II2 tests
Hereditary sensory neuropathy type 1D2 tests
Hereditary sensory neuropathy type IE2 tests
Hereditary spastic paraplegia2 tests
Hereditary spherocytosis1 test
Hexosaminidase A deficiency, adult type1 test
Holoprosencephaly 22 tests
Holoprosencephaly 32 tests
Holoprosencephaly 42 tests
Holoprosencephaly 52 tests
Holoprosencephaly 92 tests
Holoprosencephaly sequence2 tests
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type1 test
Huntington disease1 test
Hutchinson-Gilford syndrome1 test
Hyper-IgM syndrome type 21 test
Hyper-IgM syndrome type 31 test
Hyper-IgM syndrome type 51 test
Hypercoagulability1 test
Hyperimmunoglobulin D with periodic fever1 test
Hyperinsulinemic hypoglycemia, familial, 12 tests
Hyperlipoproteinemia1 test
Hypertrichotic osteochondrodysplasia Cantu type1 test
Hypertrophic cardiomyopathy 251 test
Hypochondrogenesis2 tests
Hypochondroplasia2 tests
Hypohidrotic X-linked ectodermal dysplasia1 test
Hypohidrotic ectodermal dysplasia1 test
Hypophosphatasia2 tests
Hystrix-like ichthyosis with deafness3 tests
Imerslund-Gräsbeck syndrome1 test
Immunodeficiency 141 test
Immunoglobulin A deficiency 21 test
Incontinentia pigmenti syndrome1 test
Insulin-resistant diabetes mellitus AND acanthosis nigricans1 test
Intellectual functioning disability1 test
Intrinsic factor deficiency1 test
Irinotecan response2 tests
Jarcho-Levin syndrome2 tests
Jervell and Lange-Nielsen syndrome1 test
Jervell and Lange-Nielsen syndrome 21 test
Jeune thoracic dystrophy2 tests
Joubert syndrome 22 tests
Juvenile (Subacute) Hexosaminidase A Deficiency1 test
Juvenile polyposis syndrome8 tests
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome8 tests
Kabuki syndrome 11 test
Keratitis-ichthyosis-deafness syndrome, autosomal dominant3 tests
Kniest dysplasia2 tests
Knuckle pads, deafness AND leukonychia syndrome2 tests
LEOPARD syndrome 11 test
Langer mesomelic dysplasia syndrome3 tests
Larsen syndrome2 tests
Left ventricular noncompaction1 test
Left ventricular noncompaction 11 test
Left ventricular noncompaction 101 test
Left ventricular noncompaction 41 test
Left ventricular noncompaction 61 test
Legius syndrome5 tests
Leprechaunism syndrome1 test
Leri-Weill dyschondrosteosis3 tests
Lethal Kniest-like syndrome2 tests
Lethal tight skin contracture syndrome1 test
Li-Fraumeni syndrome7 tests
Limb-girdle muscular dystrophy1 test
Limb-girdle muscular dystrophy, type 1B3 tests
Limb-girdle muscular dystrophy, type 2J1 test
Limb-girdle muscular dystrophy-dystroglycanopathy, type C41 test
Limb-girdle muscular dystrophy-dystroglycanopathy, type C51 test
Loeys-Dietz syndrome 12 tests
Loeys-Dietz syndrome 22 tests
Loeys-Dietz syndrome 31 test
Loeys-Dietz syndrome 41 test
Long QT syndrome1 test
Long QT syndrome 11 test
Long QT syndrome 101 test
Long QT syndrome 111 test
Long QT syndrome 121 test
Long QT syndrome 21 test
Long QT syndrome 31 test
Long QT syndrome 41 test
Long QT syndrome 51 test
Long QT syndrome 61 test
Long QT syndrome 91 test
Lymphoproliferative syndrome 1, X-linked1 test
Lymphoproliferative syndrome 2, X-linked1 test
Lynch syndrome5 tests
Lynch syndrome II2 tests
MASS syndrome3 tests
MTHFR deficiency, thermolabile type2 tests
MYH-associated polyposis5 tests
Macrocephaly/autism syndrome3 tests
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
Majeed syndrome1 test
Mandibuloacral dysplasia with type A lipodystrophy1 test
Maple syrup urine disease type 1B2 tests
Maple syrup urine disease, type 32 tests
Marfan syndrome4 tests
Medium-chain acyl-coenzyme A dehydrogenase deficiency2 tests
Medulloblastoma1 test
Menkes kinky-hair syndrome3 tests
Mental retardation 3, X-linked1 test
Mental retardation, X-linked, syndromic 132 tests
Mental retardation, X-linked, syndromic, martin-probst type2 tests
Metachondromatosis1 test
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly2 tests
Metatrophic dysplasia2 tests
Methemoglobinemia, type I1 test
Methylcobalamin deficiency type cblG1 test
Methylmalonic acidemia with homocystinuria1 test
Methylmalonic acidemia with homocystinuria cblD1 test
Methylmalonic acidemia with homocystinuria, type cblJ1 test
Methylmalonic aciduria and homocystinuria type cblF1 test
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency1 test
Methylmalonic aciduria due to transcobalamin receptor defect1 test
Methylmalonyl-CoA epimerase deficiency1 test
Microcephaly, normal intelligence and immunodeficiency2 tests
Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive1 test
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)1 test
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)1 test
Morphine response1 test
Mucolipidosis type IV2 tests
Muir-Torré syndrome4 tests
Multiple Cutaneous and Mucosal Venous Malformations1 test
Multiple endocrine neoplasia, type 15 tests
Multiple endocrine neoplasia, type 21 test
Multiple endocrine neoplasia, type 2a1 test
Multiple endocrine neoplasia, type 2b1 test
Multiple endocrine neoplasia, type 41 test
Multiple fibrofolliculomas2 tests
Muscular dystrophy, limb-girdle, type 2R1 test
Myocardial infarction 11 test
Myofibrillar myopathy 11 test
Myofibrillar myopathy 31 test
Myofibrillar myopathy, ZASP-related1 test
Myopathy, distal, 11 test
Myopathy, early-onset, with fatal cardiomyopathy1 test
Myopathy, myofibrillar, 9, with early respiratory failure1 test
Myotonic dystrophy1 test
Narcolepsy 11 test
Naxos disease1 test
Nemaline myopathy 22 tests
Neuroblastoma1 test
Neurofibromatosis, type 13 tests
Neurofibromatosis, type 21 test
Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive2 tests
Neutropenia, severe congenital 1, autosomal dominant1 test
Niemann-Pick disease, type A2 tests
Noonan syndrome2 tests
Noonan syndrome 12 tests
Noonan syndrome 42 tests
Noonan syndrome with multiple lentigines2 tests
Noonan syndrome-like disorder with loose anagen hair 12 tests
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia2 tests
Ornithine carbamoyltransferase deficiency3 tests
Osteogenesis imperfecta2 tests
Osteoglophonic dysplasia2 tests
Otospondylomegaepiphyseal dysplasia, autosomal dominant1 test
PTEN hamartoma tumor syndrome4 tests
Pallister-Hall syndrome3 tests
Palmoplantar keratoderma-deafness syndrome2 tests
Paragangliomas 13 tests
Paragangliomas 33 tests
Paragangliomas 43 tests
Paragangliomas 51 test
Parastremmatic dwarfism2 tests
Parkes Weber syndrome5 tests
Pendred syndrome1 test
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease2 tests
Peripheral neuropathy, myopathy, hoarseness, and hearing loss2 tests
Perrault syndrome 11 test
Perry syndrome2 tests
Peutz-Jeghers syndrome6 tests
Pheochromocytoma4 tests
Phosphoglycerate kinase 1 deficiency1 test
Pilomatrixoma1 test
Pineal hyperplasia AND diabetes mellitus syndrome1 test
Platyspondylic dysplasia, Torrance type2 tests
Polycystic kidney disease, autosomal dominant3 tests
Prader-Willi syndrome2 tests
Primary dilated cardiomyopathy1 test
Primary familial hypertrophic cardiomyopathy1 test
Primary pulmonary hypertension5 tests
Primary pulmonary hypertension 21 test
Primary pulmonary hypertension 31 test
Primary pulmonary hypertension 42 tests
Progressive familial heart block type IB1 test
Progressive familial heart block, type 1A1 test
Propionic acidemia1 test
Proteus syndrome1 test
Proteus-like syndrome1 test
Pseudo von Willebrand disease1 test
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome2 tests
Pseudohypoaldosteronism type 2D1 test
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia1 test
Pulmonary venoocclusive disease 1, autosomal dominant3 tests
Pulmonary venoocclusive disease 2, autosomal recessive1 test
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1 test
Pyruvate kinase deficiency of red cells2 tests
Rasopathy2 tests
Renal carnitine transport defect3 tests
Renal cell carcinoma, papillary, 12 tests
Retinoblastoma1 test
Rett syndrome3 tests
Rhabdoid tumor predisposition syndrome 11 test
Rhizomelic chondrodysplasia punctata2 tests
Rippling muscle disease 21 test
Romano-Ward syndrome1 test
Rotor syndrome1 test
Russell-Silver syndrome1 test
SUDDEN INFANT DEATH SYNDROME1 test
Schneckenbecken dysplasia2 tests
Schwartz-Jampel syndrome2 tests
Severe autosomal recessive muscular dystrophy of childhood - North African type1 test
Severe combined immunodeficiency due to ADA deficiency1 test
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive1 test
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive1 test
Severe neonatal-onset encephalopathy with microcephaly3 tests
Short QT syndrome 11 test
Short QT syndrome 21 test
Short QT syndrome 31 test
Short rib-polydactyly syndrome, Majewski type2 tests
Short stature, idiopathic, autosomal3 tests
Short-rib thoracic dysplasia 3 with or without polydactyly2 tests
Shprintzen-Goldberg syndrome4 tests
Sick sinus syndrome 1, autosomal recessive1 test
Sickle cell-Hemoglobin O Arab disease3 tests
Sickle cell-beta-thalassemia3 tests
Sickle cell-hemoglobin C disease3 tests
Sickle cell-hemoglobin D disease3 tests
Silver-Russell syndrome due to an imprinting defect of 11p151 test
Skeletal dysplasia2 tests
Slowed nerve conduction velocity, autosomal dominant2 tests
Smith-Lemli-Opitz syndrome2 tests
Spermatogenic failure, Y-linked 21 test
Spinal muscular atrophy5 tests
Spinal muscular atrophy, distal, autosomal recessive, 12 tests
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant2 tests
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 12 tests
Spondylocarpotarsal synostosis syndrome2 tests
Spondyloepiphyseal dysplasia congenita2 tests
Spondyloperipheral dysplasia-short ulna syndrome2 tests
Spongy degeneration of central nervous system2 tests
Statin-induced myopathy1 test
Steinert myotonic dystrophy syndrome1 test
Stiff skin syndrome3 tests
Stüve-Wiedemann syndrome2 tests
Subacute neuronopathic Gaucher's disease2 tests
Syndromic X-linked intellectual disability Lubs type2 tests
TNF receptor-associated periodic fever syndrome (TRAPS)1 test
Tay-Sachs disease5 tests
Telangiectasia, hereditary hemorrhagic, type 25 tests
Telangiectasia, hereditary hemorrhagic, type 52 tests
Terminal osseous dysplasia2 tests
Thalassemia3 tests
Thalassemia intermedia2 tests
Thanatophoric dysplasia type 14 tests
Thanatophoric dysplasia, type 24 tests
Thiopurine response1 test
Thrombophilia due to factor V Leiden2 tests
Thrombophilia, familial, due to decreased release of tissue plasminogen activator1 test
Timothy syndrome1 test
Transcolabamin II deficiency1 test
Transcription level of plasminogen activator inhibitor 11 test
Triosephosphate isomerase deficiency1 test
Tropical calcific pancreatitis2 tests
Tuberous sclerosis 12 tests
Tuberous sclerosis 22 tests
Tuberous sclerosis syndrome1 test
Tumor susceptibility linked to germline BAP1 mutations2 tests
Turcot syndrome6 tests
Type II Collagenopathies2 tests
Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to1 test
Usher syndrome type 1D1 test
Usher syndrome type 1F3 tests
Usher syndrome type 21 test
Usher syndrome, type 1B1 test
Usher syndrome, type 1C1 test
Usher syndrome, type 1G1 test
Usher syndrome, type 2C1 test
Usher syndrome, type 2D1 test
Usher syndrome, type 3A3 tests
VACTERL association with hydrocephalus2 tests
Venous thrombosis3 tests
Ventricular tachycardia, catecholaminergic polymorphic, 21 test
Vertical talus, congenital2 tests
Very long chain acyl-CoA dehydrogenase deficiency3 tests
Vitamin B12-responsive methylmalonic acidemia type cblA1 test
Vitamin B12-responsive methylmalonic acidemia type cblB1 test
Von Hippel-Lindau syndrome5 tests
Warfarin response1 test
Weill-Marchesani syndrome 23 tests
Wilson disease1 test
Wolff-Parkinson-White pattern1 test
X-linked agammaglobulinemia1 test
X-linked hyper-IgM syndrome1 test
Xerocytosis1 test
alpha Thalassemia4 tests
beta Thalassemia6 tests
short QT syndrome1 test
von Willebrand disease type 24 tests
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