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Al Jalila Children's Genomics Center (Al Jalila Childrens Speciality Hospital)

General information

Al Jalila Children's Genomics Center
Al Jalila Childrens Speciality Hospital
Dubai
United Arab Emirates - 0000
http://genomics.ae/
Organization ID: 507199

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 795

Gene

GeneSubmissionsLast Updated
A2ML11Oct 4, 2021
ABCA21Oct 4, 2021
ABCA41Oct 4, 2021
ABCB112Oct 4, 2021
ABCB61Oct 4, 2021
ABCG21Oct 4, 2021
ACOX21Oct 4, 2021
ACP51Oct 4, 2021
ADAM171Oct 4, 2021
ADAMTSL11Oct 4, 2021
ADAMTSL41Oct 4, 2021
ADGRE22Oct 4, 2021
ADGRV15Oct 4, 2021
ADNP1Oct 4, 2021
AGBL21Oct 4, 2021
AGBL51Oct 4, 2021
AGMO1Oct 4, 2021
AHDC11Oct 4, 2021
AHI11Oct 4, 2021
AIRE1Oct 4, 2021
AKAP91Oct 4, 2021
ALDH18A11Oct 4, 2021
ALG131Oct 4, 2021
ALG91Oct 4, 2021
ALMS11Oct 4, 2021
ALOX12B1Oct 4, 2021
AMPD12Oct 4, 2021
ANK31Oct 4, 2021
ANKRD261Oct 4, 2021
AOX11Oct 4, 2021
AP1S32Oct 4, 2021
AP4B11Oct 4, 2021
AP4B1-AS11Oct 4, 2021
APC1Oct 4, 2021
APOL11Oct 4, 2021
ARAP31Oct 4, 2021
ARHGEF101Oct 4, 2021
ARHGEF181Oct 4, 2021
ARHGEF91Oct 4, 2021
ARID1B1Oct 4, 2021
ARID21Oct 4, 2021
ARPC1B1Oct 4, 2021
ARSA1Oct 4, 2021
ARSB2Oct 4, 2021
ASPN1Oct 4, 2021
ASXL32Oct 4, 2021
ATAD3A1Oct 4, 2021
ATIC1Oct 4, 2021
ATM2Oct 4, 2021
ATN11Oct 4, 2021
ATP13A21Oct 4, 2021
ATP1A31Oct 4, 2021
ATP8A21Oct 4, 2021
ATP8B13Oct 4, 2021
ATP8B1-AS11Oct 4, 2021
ATXN21Oct 4, 2021
AVPR21Oct 4, 2021
BCR1Oct 4, 2021
BFSP11Oct 4, 2021
BLTP12Oct 4, 2021
BPTF1Oct 4, 2021
C12orf41Oct 4, 2021
C2CD31Oct 4, 2021
C31Oct 4, 2021
C4B1Nov 16, 2020
C91Oct 4, 2021
CACNA1A1Oct 4, 2021
CACNA1C1Oct 4, 2021
CACNA1D1Oct 4, 2021
CACNA1S1Oct 4, 2021
CAPN31Oct 4, 2021
CASP101Oct 4, 2021
CASQ22Oct 4, 2021
CAV11Oct 4, 2021
CC2D2A2Oct 4, 2021
CCDC401Oct 4, 2021
CCDC88C1Oct 4, 2021
CCN61Nov 16, 2020
CCNO1Oct 4, 2021
CD1631Nov 15, 2021
CD2471Oct 4, 2021
CD362Oct 4, 2021
CD841Nov 15, 2021
CDHR11Oct 4, 2021
CDK101Oct 4, 2021
CEL1Oct 4, 2021
CENPP1Oct 4, 2021
CEP1042Oct 4, 2021
CEP1201Oct 4, 2021
CEP1641Oct 4, 2021
CEP191Oct 4, 2021
CERS11Oct 4, 2021
CFH1Oct 4, 2021
CFHR51Oct 4, 2021
CFL21Oct 4, 2021
CFTR5Oct 4, 2021
CFTR-AS11Oct 4, 2021
CHAT1Oct 4, 2021
CHD31Oct 4, 2021
CHD72Oct 4, 2021
CHIT11Oct 4, 2021
CHRNA41Oct 4, 2021
CHRNA71Oct 4, 2021
CHRND1Oct 4, 2021
CIC1Oct 4, 2021
CLDN141Oct 4, 2021
CLDN14-AS11Oct 4, 2021
CLDN161Oct 4, 2021
CLN61Oct 4, 2021
CLN81Oct 4, 2021
CLRN11Oct 4, 2021
COL11A11Oct 4, 2021
COL11A22Oct 4, 2021
COL4A11Oct 4, 2021
COL4A31Oct 4, 2021
COL4A61Oct 4, 2021
COL5A11Oct 4, 2021
COL6A12Oct 4, 2021
COL6A21Oct 4, 2021
COL6A34Oct 4, 2021
COL7A11Oct 4, 2021
COL9A21Oct 4, 2021
COPA1Oct 4, 2021
COQ61Oct 4, 2021
COQ8A2Oct 4, 2021
COQ8B1Oct 4, 2021
COQ91Oct 4, 2021
CPS12Oct 4, 2021
CRB12Oct 4, 2021
CREBBP1Oct 4, 2021
CRYBA41Oct 4, 2021
CRYBB11Oct 4, 2021
CSPP12Oct 4, 2021
CTNNA31Oct 4, 2021
CTNS1Oct 4, 2021
CWC271Oct 4, 2021
CYP1B12Oct 4, 2021
CYP21A22Oct 4, 2021
CYP2B62Oct 4, 2021
CYP4V21Oct 4, 2021
DARS22Oct 4, 2021
DCDC21Oct 4, 2021
DCLRE1C1Oct 4, 2021
DEPDC52Oct 4, 2021
DGAT11Oct 4, 2021
DHCR71Oct 4, 2021
DHODH1Oct 4, 2021
DIAPH11Oct 4, 2021
DKC11Oct 4, 2021
DLX61Oct 4, 2021
DLX6-AS11Oct 4, 2021
DMAC2L2Oct 4, 2021
DMGDH2Oct 4, 2021
DMXL21Oct 4, 2021
DNAH11Oct 4, 2021
DNAH112Oct 4, 2021
DNAH52Oct 4, 2021
DNHD11Oct 4, 2021
DNM21Oct 4, 2021
DOCK21Oct 4, 2021
DOCK82Oct 4, 2021
DOK71Oct 4, 2021
DSC22Oct 4, 2021
DSE2Oct 4, 2021
DST3Oct 4, 2021
DUOX23Oct 4, 2021
DYNC1H11Oct 4, 2021
DYNC2H12Oct 4, 2021
DYSF2Oct 4, 2021
EFL11Oct 4, 2021
EHMT11Nov 16, 2020
EIF2B21Oct 4, 2021
ELMOD31Oct 4, 2021
ENPP12Oct 4, 2021
EP3001Oct 4, 2021
EP4001Oct 4, 2021
EPB41L11Oct 4, 2021
EPS81Oct 4, 2021
ERCC11Oct 4, 2021
ERCC62Oct 4, 2021
ERCC6-PGBD31Oct 4, 2021
ESPN1Oct 4, 2021
ETHE11Oct 4, 2021
EVC21Oct 4, 2021
EXOSC91Sep 17, 2020
EXT11Oct 4, 2021
EXT21Oct 4, 2021
EYA11Oct 4, 2021
EYS3Oct 4, 2021
F51Oct 4, 2021
FAM161B1Oct 4, 2021
FANCA1Oct 4, 2021
FANCC1Oct 4, 2021
FANCD22Oct 4, 2021
FAT21Oct 4, 2021
FBP21Oct 4, 2021
FBXL41Oct 4, 2021
FBXO221Oct 4, 2021
FBXO71Oct 4, 2021
FDFT11Oct 4, 2021
FERMT11Oct 4, 2021
FGA1Oct 4, 2021
FGF121Oct 4, 2021
FGFR12Oct 4, 2021
FGFR22Oct 4, 2021
FGFR32Oct 4, 2021
FH1Oct 4, 2021
FKRP1Oct 4, 2021
FLG2Oct 4, 2021
FLNA1Oct 4, 2021
FLNB2Oct 4, 2021
FLNC1Oct 4, 2021
FN11Oct 4, 2021
FOXC12Oct 4, 2021
FOXE11Oct 4, 2021
GABBR21Oct 4, 2021
GALNS1Oct 4, 2021
GATA41Oct 4, 2021
GATAD11Oct 4, 2021
GBE11Oct 4, 2021
GBF11Oct 4, 2021
GDF11Oct 4, 2021
GH-LCR2Oct 4, 2021
GIGYF21Oct 4, 2021
GIPC31Oct 4, 2021
GJB22Oct 4, 2021
GJB41Oct 4, 2021
GLA1Oct 4, 2021
GLB11Oct 4, 2021
GLI31Oct 4, 2021
GNAS1Nov 16, 2020
GNAT11Oct 4, 2021
GNE1Oct 4, 2021
GNPTAB2Oct 4, 2021
GPI1Oct 4, 2021
GPIHBP11Oct 4, 2021
GPR1793Oct 4, 2021
GPSM21Oct 4, 2021
GRIN2B1Oct 4, 2021
GTPBP31Oct 4, 2021
GYG21Oct 4, 2021
HACD11Oct 4, 2021
HBB4Oct 4, 2021
HGSNAT1Oct 4, 2021
HHAT1Oct 4, 2021
HOXA31Oct 4, 2021
HPS41Oct 4, 2021
HSD17B42Oct 4, 2021
HSPG24Oct 4, 2021
HTT1Oct 4, 2021
HYDIN2Oct 4, 2021
IDS2Oct 4, 2021
IDUA2Oct 4, 2021
IFI441Nov 15, 2021
IFI44L1Nov 15, 2021
IFIH17Nov 15, 2021
IFNA211Nov 15, 2021
IFNA41Nov 15, 2021
IFNA61Nov 15, 2021
IFNAR22Nov 15, 2021
IFNB11Nov 15, 2021
IFRD21Oct 4, 2021
IFT431Oct 4, 2021
IKBKE1Nov 23, 2020
IL17RB1Oct 4, 2021
IL17RC1Oct 4, 2021
IL1RN2Oct 4, 2021
IL22RA21Nov 15, 2021
IL6ST2Oct 4, 2021
ILDR11Oct 4, 2021
INF21Oct 4, 2021
INTS12Oct 4, 2021
IRAK31Nov 15, 2021
IRF31Nov 15, 2021
IRF61Oct 4, 2021
IRF71Oct 4, 2021
ITGA71Oct 4, 2021
KANK11Oct 4, 2021
KANSL11Oct 4, 2021
KAT6A1Oct 4, 2021
KCNC11Oct 4, 2021
KCNJ101Oct 4, 2021
KCNJ111Oct 4, 2021
KCNMA11Oct 4, 2021
KCNMA1-AS11Oct 4, 2021
KCNQ11Oct 4, 2021
KIAA05861Oct 4, 2021
KIF72Oct 4, 2021
KIRREL11Oct 4, 2021
KLHL71Oct 4, 2021
KMT2C2Oct 4, 2021
KRT181Oct 4, 2021
KRT81Oct 4, 2021
KRTAP10-121Oct 4, 2021
KRTAP10-31Oct 4, 2021
L2HGDH3Oct 4, 2021
LAMA22Oct 4, 2021
LAMB22Oct 4, 2021
LAMB31Oct 4, 2021
LAMC21Oct 4, 2021
LAMC33Oct 4, 2021
LAMP21Oct 4, 2021
LARGE11Oct 4, 2021
LARS24Oct 4, 2021
LDB31Oct 4, 2021
LDHAL6B1Oct 4, 2021
LDLRAD21Oct 4, 2021
LFNG1Oct 4, 2021
LIPA1Oct 4, 2021
LMNA1Oct 4, 2021
LOC1002895801Oct 4, 2021
LOC1053715662Oct 4, 2021
LOC1060501022Oct 4, 2021
LOC1060964161Oct 4, 2021
LOC1060990624Oct 4, 2021
LOC1067808002Oct 4, 2021
LOC1071335104Oct 4, 2021
LOC1073033382Oct 4, 2021
LOC1094614841Oct 4, 2021
LOC1096115891Oct 4, 2021
LOC1100063191Oct 4, 2021
LOC1116744721Oct 4, 2021
LOC1125336711Oct 4, 2021
LOC1217250461Oct 4, 2021
LOC1235228031Oct 4, 2021
LOC1239562722Oct 4, 2021
LOXHD13Oct 4, 2021
LPAR61Oct 4, 2021
LPIN21Oct 4, 2021
LRBA2Oct 4, 2021
LRIT31Oct 4, 2021
LRP52Oct 4, 2021
LRRC511Oct 4, 2021
LRRK21Oct 4, 2021
LRTOMT1Oct 4, 2021
LTBP21Oct 4, 2021
LTBP42Oct 4, 2021
LY91Nov 15, 2021
LYST3Oct 4, 2021
MACF11Oct 4, 2021
MALT11Oct 4, 2021
MAN2B21Oct 4, 2021
MBTPS11Oct 4, 2021
MCOLN11Oct 4, 2021
MECP21Oct 4, 2021
MED13L1Oct 4, 2021
MEFV12Oct 4, 2021
MFF-DT1Oct 4, 2021
MID21Oct 4, 2021
MIPEP1Oct 4, 2021
MLH11Oct 4, 2021
MMP21Oct 4, 2021
MMP91Oct 4, 2021
MPDZ1Oct 4, 2021
MPL1Oct 4, 2021
MPZL21Oct 4, 2021
MRE111Oct 4, 2021
MSC-AS11Oct 4, 2021
MSRB31Oct 4, 2021
MTCL11Oct 4, 2021
MVD1Oct 4, 2021
MVK2Oct 4, 2021
MYBPC21Oct 4, 2021
MYBPC32Oct 4, 2021
MYH141Oct 4, 2021
MYH91Oct 4, 2021
MYO15A3Oct 4, 2021
MYO1E1Oct 4, 2021
MYO5A1Oct 4, 2021
MYO5B1Oct 4, 2021
MYO61Oct 4, 2021
MYOCD1Oct 4, 2021
NALCN2Oct 4, 2021
NANS1Oct 4, 2021
NARS21Oct 4, 2021
NDUFB41Oct 4, 2021
NEB4Oct 4, 2021
NEDD4L2Oct 4, 2021
NELL12Oct 4, 2021
NF11Oct 4, 2021
NGLY11Oct 4, 2021
NKX2-11Oct 4, 2021
NLRC41Oct 4, 2021
NLRP13Oct 4, 2021
NLRP124Nov 15, 2021
NLRP21Nov 15, 2021
NME31Oct 4, 2021
NME81Oct 4, 2021
NOD23Oct 4, 2021
NOTCH22Oct 4, 2021
NPC15Oct 4, 2021
NPHP11Oct 4, 2021
NPHP41Oct 4, 2021
NPHS12Oct 4, 2021
NPHS21Oct 4, 2021
NPR21Oct 4, 2021
NRL1Oct 4, 2021
NRXN11Oct 4, 2021
NUP931Oct 4, 2021
NUTM2B2Oct 4, 2021
NUTM2B-AS12Oct 4, 2021
OPA11Oct 4, 2021
OPHN11Oct 4, 2021
ORC12Oct 4, 2021
OSBPL21Oct 4, 2021
OTOA1Oct 4, 2021
OTOF1Oct 4, 2021
OTOG4Oct 4, 2021
PAH1Oct 4, 2021
PARS21Oct 4, 2021
PCARE1Oct 4, 2021
PCAT71Oct 4, 2021
PCDH151Oct 4, 2021
PCDH191Oct 4, 2021
PCNT1Oct 4, 2021
PDHX1Oct 4, 2021
PDILT1Oct 4, 2021
PEX12Oct 4, 2021
PEX261Oct 4, 2021
PEX62Oct 4, 2021
PGBD31Oct 4, 2021
PGK11Oct 4, 2021
PHF21A1Oct 4, 2021
PHF31Oct 4, 2021
PHKA11Oct 4, 2021
PHKA21Oct 4, 2021
PHKG21Oct 4, 2021
PHYH1Oct 4, 2021
PIEZO12Oct 4, 2021
PIGT1Oct 4, 2021
PIK3CD2Oct 4, 2021
PITX31Oct 4, 2021
PKD1L11Oct 4, 2021
PKHD15Oct 4, 2021
PKP21Oct 4, 2021
PLCB11Oct 4, 2021
PLCG21Oct 4, 2021
PLEC6Oct 4, 2021
PLOD11Oct 4, 2021
PMM21Oct 4, 2021
PNKP1Oct 4, 2021
PNPO2Oct 4, 2021
POGZ1Oct 4, 2021
POLD12Oct 4, 2021
PRDM51Oct 4, 2021
PRG42Nov 16, 2020
PRICKLE12Oct 4, 2021
PRMT71Oct 4, 2021
PRODH1Oct 4, 2021
PRSS81Oct 4, 2021
PSMB81Oct 4, 2021
PTBP21Oct 4, 2021
PTPN231Oct 4, 2021
PYGM1Oct 4, 2021
PYY1Oct 4, 2021
RAB27A1Nov 15, 2021
RAC11Oct 4, 2021
RAC21Oct 4, 2021
RANGAP11Oct 4, 2021
RARS11Oct 4, 2021
RARS21Oct 4, 2021
RB11Oct 4, 2021
RDX1Oct 4, 2021
RELN1Oct 4, 2021
RET2Oct 4, 2021
RLBP11Oct 4, 2021
ROR22Oct 4, 2021
RP1L11Oct 4, 2021
RPGRIP11Oct 4, 2021
RPL36A-HNRNPH21Oct 4, 2021
RRP81Oct 4, 2021
RS11Oct 4, 2021
RSPH31Oct 4, 2021
RUNX22Oct 4, 2021
RYR13Oct 4, 2021
RYR22Oct 4, 2021
RYR31Oct 4, 2021
S100A61Oct 4, 2021
S1PR21Oct 4, 2021
SACS1Oct 4, 2021
SALL13Oct 4, 2021
SALL41Oct 4, 2021
SAMD111Oct 4, 2021
SAMD91Oct 4, 2021
SAMHD11Oct 4, 2021
SBF11Oct 4, 2021
SCN1A-AS11Oct 4, 2021
SCN3A1Oct 4, 2021
SCN4A2Oct 4, 2021
SCN5A1Oct 4, 2021
SCN9A1Oct 4, 2021
SCRIB1Oct 4, 2021
SDHA1Oct 4, 2021
SELENON1Oct 4, 2021
SERPINA11Oct 4, 2021
SERPINA31Oct 4, 2021
SERPINA61Oct 4, 2021
SERPINB61Oct 4, 2021
SERPINC11Oct 4, 2021
SETD21Oct 4, 2021
SETD51Oct 4, 2021
SETX2Oct 4, 2021
SFTA31Oct 4, 2021
SGCA1Oct 4, 2021
SGCB1Oct 4, 2021
SH3BP21Oct 4, 2021
SH3PXD2B1Oct 4, 2021
SH3TC21Oct 4, 2021
SHOC21Oct 4, 2021
SHROOM31Oct 4, 2021
SHROOM3-AS11Oct 4, 2021
SIN3A1Oct 4, 2021
SIX11Oct 4, 2021
SKIC21Oct 4, 2021
SKIC32Oct 4, 2021
SLC12A32Oct 4, 2021
SLC13A51Oct 4, 2021
SLC22A121Oct 4, 2021
SLC22A181Oct 4, 2021
SLC22A18AS1Oct 4, 2021
SLC25A241Oct 4, 2021
SLC26A12Oct 4, 2021
SLC26A32Oct 4, 2021
SLC26A46Oct 4, 2021
SLC38A81Oct 4, 2021
SLITRK61Oct 4, 2021
SLX42Oct 4, 2021
SMAD71Oct 4, 2021
SMARCA41Oct 4, 2021
SMCHD11Oct 4, 2021
SMPD11Oct 4, 2021
SOAT21Oct 4, 2021
SOHLH11Oct 4, 2021
SPAG11Oct 4, 2021
SPAG171Oct 4, 2021
SPART1Oct 4, 2021
SPATA51Oct 4, 2021
SPG113Oct 4, 2021
SPRY11Oct 4, 2021
SPTA11Oct 4, 2021
SPTAN13Oct 4, 2021
SRA11Oct 4, 2021
SSH12Oct 4, 2021
ST3GAL31Oct 4, 2021
STING11Oct 4, 2021
STRC1Oct 4, 2021
STXBP31Oct 4, 2021
SYN11Oct 4, 2021
SYNE17Oct 4, 2021
TANGO21Oct 4, 2021
TAPT11Oct 4, 2021
TBC1D10B1Oct 4, 2021
TBC1D242Oct 4, 2021
TBC1D8B2Oct 4, 2021
TBCEL-TECTA1Oct 4, 2021
TBCK1Oct 4, 2021
TBL1XR11Oct 4, 2021
TCF121Oct 4, 2021
TDRD91Oct 4, 2021
TECTA1Oct 4, 2021
TENT5A1Oct 4, 2021
TERT1Oct 4, 2021
TEX141Oct 4, 2021
TFAP2A1Oct 4, 2021
TFAP2A-AS21Oct 4, 2021
TGFB22Oct 4, 2021
THG1L1Oct 4, 2021
TICRR1Oct 4, 2021
TINF21Oct 4, 2021
TLDC21Oct 4, 2021
TLK21Oct 4, 2021
TLR31Nov 15, 2021
TLR61Nov 15, 2021
TMEM671Oct 4, 2021
TMPRSS61Oct 4, 2021
TNFAIP31Nov 16, 2020
TNFRSF13B1Oct 4, 2021
TNFRSF1A1Nov 16, 2020
TNNT11Oct 4, 2021
TNXB2Oct 4, 2021
TOM11Oct 4, 2021
TOR1AIP11Oct 4, 2021
TPO3Oct 4, 2021
TRAF31Nov 15, 2021
TRAP12Oct 4, 2021
TRAPPC112Oct 4, 2021
TRIM141Oct 4, 2021
TRIM691Nov 15, 2021
TRIOBP5Oct 4, 2021
TRPA11Oct 4, 2021
TRPM11Oct 4, 2021
TRPM71Oct 4, 2021
TSC11Oct 4, 2021
TSC22Oct 4, 2021
TSEN541Oct 4, 2021
TSPEAR3Oct 4, 2021
TSPOAP12Oct 4, 2021
TSPYL11Oct 4, 2021
TTC21B1Oct 4, 2021
TTC7A1Oct 4, 2021
TTI11Oct 4, 2021
TTN9Oct 4, 2021
TTN-AS13Oct 4, 2021
TUBB2B1Oct 4, 2021
UBQLN41Oct 4, 2021
UGT1A3Oct 4, 2021
UGT1A13Oct 4, 2021
UGT1A103Oct 4, 2021
UGT1A33Oct 4, 2021
UGT1A43Oct 4, 2021
UGT1A53Oct 4, 2021
UGT1A63Oct 4, 2021
UGT1A73Oct 4, 2021
UGT1A83Oct 4, 2021
UGT1A93Oct 4, 2021
UNC13D1Oct 4, 2021
UNC45B1Oct 4, 2021
UNG1Oct 4, 2021
UPB11Oct 4, 2021
USH2A2Oct 4, 2021
USP9X1Oct 4, 2021
VANGL12Oct 4, 2021
VARS21Oct 4, 2021
VCAN1Oct 4, 2021
VCAN-AS11Oct 4, 2021
VCP1Oct 4, 2021
VDR1Oct 4, 2021
VIPAS391Oct 4, 2021
VPS111Oct 4, 2021
VPS13B1Oct 4, 2021
WDR812Oct 4, 2021
WFS11Oct 4, 2021
WHRN1Oct 4, 2021
WWOX1Oct 4, 2021
XYLT11Oct 4, 2021
ZBTB181Oct 4, 2021
ZFYVE264Oct 4, 2021
ZIC51Oct 4, 2021
ZNF1412Oct 4, 2021
ZNF2761Oct 4, 2021
ZNF2921Oct 4, 2021
ZNF3351Oct 4, 2021
ZNF4621Oct 4, 2021
ZNF4691Oct 4, 2021
ZNF6271Oct 4, 2021
ZPBP1Oct 4, 2021

Condition

NameSubmissionsLast Updated
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder1Oct 4, 2021
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome1Oct 4, 2021
ALG9 congenital disorder of glycosylation1Oct 4, 2021
Acromesomelic dysplasia 1, Maroteaux type1Oct 4, 2021
Aicardi-Goutieres syndrome 75Oct 4, 2021
Al Kaissi syndrome1Oct 4, 2021
Alagille syndrome due to a NOTCH2 point mutation2Oct 4, 2021
Alkuraya-Kucinskas syndrome2Oct 4, 2021
Alpha-1-antitrypsin deficiency1Oct 4, 2021
Anterior segment dysgenesis 11Oct 4, 2021
Arrhythmogenic right ventricular dysplasia 112Oct 4, 2021
Arrhythmogenic right ventricular dysplasia 131Oct 4, 2021
Arthrogryposis, renal dysfunction, and cholestasis 21Oct 4, 2021
Asphyxiating thoracic dystrophy 32Oct 4, 2021
Ataxia-telangiectasia syndrome1Oct 4, 2021
Ataxia-telangiectasia-like disorder 11Oct 4, 2021
Atypical hemolytic-uremic syndrome with C3 anomaly1Oct 4, 2021
Autoimmune connective tissue disease and vasculitis1Nov 23, 2020
Autoinflammatory syndrome, familial, Behcet-like1Nov 16, 2020
Autosomal dominant Parkinson disease 81Oct 4, 2021
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome1Oct 4, 2021
Autosomal dominant nocturnal frontal lobe epilepsy 11Oct 4, 2021
Autosomal dominant nonsyndromic hearing loss 11Oct 4, 2021
Autosomal dominant nonsyndromic hearing loss 121Oct 4, 2021
Autosomal dominant nonsyndromic hearing loss 231Oct 4, 2021
Autosomal dominant nonsyndromic hearing loss 4A1Oct 4, 2021
Autosomal dominant optic atrophy classic form1Oct 4, 2021
Autosomal recessive Robinow syndrome2Oct 4, 2021
Autosomal recessive ataxia due to ubiquinone deficiency2Oct 4, 2021
Autosomal recessive ataxia, Beauce type1Oct 4, 2021
Autosomal recessive congenital ichthyosis 21Oct 4, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2B2Oct 4, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2D1Oct 4, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2E1Oct 4, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2Q3Oct 4, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2Y1Oct 4, 2021
Autosomal recessive limb-girdle muscular dystrophy type R182Oct 4, 2021
Autosomal recessive nonsyndromic hearing loss 1021Oct 4, 2021
Autosomal recessive nonsyndromic hearing loss 151Oct 4, 2021
Autosomal recessive nonsyndromic hearing loss 161Oct 4, 2021
Autosomal recessive nonsyndromic hearing loss 1A2Oct 4, 2021
Autosomal recessive nonsyndromic hearing loss 221Oct 4, 2021
Autosomal recessive nonsyndromic hearing loss 241Oct 4, 2021
Autosomal recessive nonsyndromic hearing loss 285Oct 4, 2021
Autosomal recessive nonsyndromic hearing loss 291Oct 4, 2021
Autosomal recessive nonsyndromic hearing loss 33Oct 4, 2021
Autosomal recessive nonsyndromic hearing loss 421Oct 4, 2021
Autosomal recessive nonsyndromic hearing loss 631Oct 4, 2021
Autosomal recessive nonsyndromic hearing loss 681Oct 4, 2021
Autosomal recessive nonsyndromic hearing loss 741Oct 4, 2021
Autosomal recessive nonsyndromic hearing loss 773Oct 4, 2021
Autosomal recessive nonsyndromic hearing loss 91Oct 4, 2021
Autosomal recessive nonsyndromic hearing loss 911Oct 4, 2021
Autosomal recessive nonsyndromic hearing loss 983Oct 4, 2021
Autosomal recessive spastic paraplegia type 781Oct 4, 2021
Autosomal recessive spinocerebellar ataxia 121Oct 4, 2021
Bamforth-Lazarus syndrome1Oct 4, 2021
Bietti crystalline corneoretinal dystrophy1Oct 4, 2021
Bilirubin, serum level of, quantitative trait locus 11Nov 16, 2020
Brain-lung-thyroid syndrome1Oct 4, 2021
Branchiooculofacial syndrome1Oct 4, 2021
Branchiootorenal syndrome 11Oct 4, 2021
Brittle cornea syndrome 11Oct 4, 2021
Brittle cornea syndrome 21Oct 4, 2021
Brugada syndrome 31Oct 4, 2021
CFHR5 deficiency1Oct 4, 2021
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome2Nov 16, 2020
Candidiasis, familial, 91Oct 4, 2021
Cataract 17 multiple types1Oct 4, 2021
Cataract 331Oct 4, 2021
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 41Oct 4, 2021
Cerebrooculofacioskeletal syndrome 41Oct 4, 2021
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)1Oct 4, 2021
Charcot-Marie-Tooth disease type 4B31Oct 4, 2021
Charlevoix-Saguenay spastic ataxia1Oct 4, 2021
Chitotriosidase deficiency1Oct 4, 2021
Chronic myelogenous leukemia, BCR-ABL1 positive1Oct 4, 2021
Ch├ędiak-Higashi syndrome3Oct 4, 2021
Ciliary dyskinesia, primary, 371Oct 4, 2021
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2Oct 4, 2021
Coffin-Siris syndrome 11Oct 4, 2021
Coffin-Siris syndrome 61Oct 4, 2021
Cohen syndrome1Oct 4, 2021
Colorectal cancer, susceptibility to, 101Oct 4, 2021
Combined immunodeficiency due to DOCK8 deficiency2Oct 4, 2021
Combined immunodeficiency due to LRBA deficiency2Oct 4, 2021
Combined immunodeficiency due to MALT1 deficiency1Oct 4, 2021
Combined oxidative phosphorylation defect type 231Oct 4, 2021
Complement component 4b deficiency1Nov 16, 2020
Complement component 9 deficiency1Oct 4, 2021
Complex lethal osteochondrodysplasia1Oct 4, 2021
Cone-rod dystrophy 151Oct 4, 2021
Congenital bile acid synthesis defect 61Oct 4, 2021
Congenital diarrhea 7 with exudative enteropathy1Oct 4, 2021
Congenital disorder of deglycosylation1Oct 4, 2021
Congenital heart defects, multiple types, 61Oct 4, 2021
Congenital hyperammonemia, type I2Oct 4, 2021
Congenital microvillous atrophy1Oct 4, 2021
Congenital muscular dystrophy due to integrin alpha-7 deficiency1Oct 4, 2021
Congenital myopathy with fiber type disproportion1Oct 4, 2021
Congenital secretory diarrhea, chloride type2Oct 4, 2021
Congenital stationary night blindness 1C1Oct 4, 2021
Congenital stationary night blindness 1E3Oct 4, 2021
Congenital stationary night blindness 1F1Oct 4, 2021
Congenital stationary night blindness autosomal dominant 31Oct 4, 2021
Corticosteroid-binding globulin deficiency1Oct 4, 2021
Crigler-Najjar syndrome type 11Nov 16, 2020
Crigler-Najjar syndrome, type II1Nov 16, 2020
Cushing syndrome1Nov 16, 2020
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies2Oct 4, 2021
DOCK2 deficiency1Oct 4, 2021
Dalmatian hypouricemia1Oct 4, 2021
Deficiency of beta-ureidopropionase1Oct 4, 2021
Deficiency of iodide peroxidase3Oct 4, 2021
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema1Nov 16, 2020
Developmental and epileptic encephalopathy, 121Oct 4, 2021
Developmental and epileptic encephalopathy, 151Oct 4, 2021
Developmental and epileptic encephalopathy, 251Oct 4, 2021
Developmental and epileptic encephalopathy, 271Oct 4, 2021
Developmental and epileptic encephalopathy, 421Oct 4, 2021
Developmental and epileptic encephalopathy, 471Oct 4, 2021
Developmental and epileptic encephalopathy, 621Oct 4, 2021
Developmental and epileptic encephalopathy, 81Oct 4, 2021
Developmental and epileptic encephalopathy, 91Oct 4, 2021
Dimethylglycine dehydrogenase deficiency2Oct 4, 2021
Duane-radial ray syndrome1Oct 4, 2021
Dyskeratosis congenita, X-linked1Oct 4, 2021
EAST syndrome1Oct 4, 2021
Ectopia lentis et pupillae1Oct 4, 2021
Ehlers-Danlos syndrome due to tenascin-X deficiency1Oct 4, 2021
Ehlers-Danlos syndrome, classic type, 11Oct 4, 2021
Ehlers-Danlos syndrome, kyphoscoliotic type 11Oct 4, 2021
Ehlers-Danlos syndrome, musculocontractural type 22Oct 4, 2021
Elliptocytosis 21Oct 4, 2021
Ellis-van Creveld syndrome1Oct 4, 2021
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome1Oct 4, 2021
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency2Oct 4, 2021
Epidermolysis bullosa simplex 5C, with pyloric atresia1Oct 4, 2021
Epilepsy, familial focal, with variable foci 12Oct 4, 2021
Epilepsy, progressive myoclonic, 1B2Oct 4, 2021
Ethylmalonic encephalopathy1Oct 4, 2021
Fabry disease1Oct 4, 2021
Familial Mediterranean fever8Nov 16, 2020
Familial Mediterranean fever, autosomal dominant12Oct 4, 2021
Familial cold autoinflammatory syndrome 22Oct 4, 2021
Familial hemophagocytic lymphohistiocytosis 31Oct 4, 2021
Familial hypokalemia-hypomagnesemia2Oct 4, 2021
Familial infantile myasthenia1Oct 4, 2021
Familial visceral amyloidosis, Ostertag type1Oct 4, 2021
Fanconi anemia complementation group A1Oct 4, 2021
Fanconi anemia complementation group C1Oct 4, 2021
Fanconi anemia complementation group P2Oct 4, 2021
Fibrous dysplasia of jaw1Oct 4, 2021
Finnish congenital nephrotic syndrome2Oct 4, 2021
Focal segmental glomerulosclerosis 4, susceptibility to1Oct 4, 2021
Focal segmental glomerulosclerosis 61Oct 4, 2021
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome1Oct 4, 2021
Frank-Ter Haar syndrome1Oct 4, 2021
GNE myopathy1Oct 4, 2021
Generalized dominant dystrophic epidermolysis bullosa1Oct 4, 2021
Gilbert syndrome3Oct 4, 2021
Glomerulopathy with fibronectin deposits 21Oct 4, 2021
Glycogen storage disease IXa11Oct 4, 2021
Glycogen storage disease IXc1Oct 4, 2021
Glycogen storage disease IXd1Oct 4, 2021
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency1Oct 4, 2021
Glycogen storage disease, type V1Oct 4, 2021
Griscelli syndrome type 11Oct 4, 2021
Harel-Yoon syndrome1Oct 4, 2021
Hb SS disease1Oct 4, 2021
Hearing loss, X-linked 61Oct 4, 2021
Hearing loss, autosomal recessive 1111Oct 4, 2021
Hemolytic anemia due to glucophosphate isomerase deficiency1Oct 4, 2021
Hereditary antithrombin deficiency1Oct 4, 2021
Hereditary spastic paraplegia 111Oct 4, 2021
Hereditary spastic paraplegia 154Oct 4, 2021
Hereditary spastic paraplegia 471Oct 4, 2021
Hereditary spastic paraplegia 9A1Oct 4, 2021
Hermansky-Pudlak syndrome 41Oct 4, 2021
Heterotaxy, visceral, 8, autosomal1Oct 4, 2021
Heterotopia, periventricular, X-linked dominant1Oct 4, 2021
High myopia-sensorineural deafness syndrome1Oct 4, 2021
Huntington disease1Oct 4, 2021
Hydrocephalus, nonsyndromic, autosomal recessive 21Oct 4, 2021
Hyper-IgM syndrome type 51Oct 4, 2021
Hyperlipoproteinemia, type 1D1Oct 4, 2021
Hypertrophic cardiomyopathy 42Oct 4, 2021
Hypomyelinating leukodystrophy 121Oct 4, 2021
Hypomyelinating leukodystrophy 91Oct 4, 2021
Hypotonia, infantile, with psychomotor retardation and characteristic facies 31Oct 4, 2021
Immunodeficiency 142Oct 4, 2021
Immunodeficiency 251Oct 4, 2021
Immunodeficiency 391Oct 4, 2021
Immunodeficiency, common variable, 21Oct 4, 2021
Inflammatory bowel disease 13Oct 4, 2021
Inflammatory skin and bowel disease, neonatal, 11Oct 4, 2021
Intellectual disability, X-linked 1011Oct 4, 2021
Intellectual disability, autosomal dominant 111Oct 4, 2021
Intellectual disability, autosomal dominant 161Oct 4, 2021
Intellectual disability, autosomal dominant 221Oct 4, 2021
Intellectual disability, autosomal dominant 451Oct 4, 2021
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency1Oct 4, 2021
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome1Oct 4, 2021
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome1Oct 4, 2021
Iron-refractory iron deficiency anemia1Oct 4, 2021
Joubert syndrome 212Oct 4, 2021
Joubert syndrome 231Oct 4, 2021
Joubert syndrome 252Oct 4, 2021
Joubert syndrome 311Oct 4, 2021
Joubert syndrome 92Oct 4, 2021
Junctional epidermolysis bullosa, non-Herlitz type2Oct 4, 2021
Juvenile retinoschisis1Oct 4, 2021
Kindler syndrome1Oct 4, 2021
Kleefstra syndrome 11Nov 16, 2020
Kleefstra syndrome 22Oct 4, 2021
Koolen-de Vries syndrome1Oct 4, 2021
L-2-hydroxyglutaric aciduria3Oct 4, 2021
Leber congenital amaurosis 61Oct 4, 2021
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome1Oct 4, 2021
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome2Oct 4, 2021
Lissencephaly 9 with complex brainstem malformation1Oct 4, 2021
Loeys-Dietz syndrome 42Oct 4, 2021
Long QT syndrome 111Oct 4, 2021
Lucey-Driscoll syndrome1Nov 16, 2020
Lymphatic malformation 62Oct 4, 2021
Lysosomal acid lipase deficiency1Oct 4, 2021
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1Oct 4, 2021
Majeed syndrome1Oct 4, 2021
Mandibular hypoplasia-deafness-progeroid syndrome1Oct 4, 2021
Maturity-onset diabetes of the young type 81Oct 4, 2021
McCune-Albright syndrome1Nov 16, 2020
Megabladder, congenital1Oct 4, 2021
Meier-Gorlin syndrome 12Oct 4, 2021
Metachromatic leukodystrophy1Oct 4, 2021
Metaphyseal anadysplasia 21Oct 4, 2021
Microcephalic primordial dwarfism due to ZNF335 deficiency1Oct 4, 2021
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome1Oct 4, 2021
Miller syndrome1Oct 4, 2021
Mitochondrial DNA depletion syndrome 131Oct 4, 2021
Mucolipidosis type IV1Oct 4, 2021
Mucopolysaccharidosis type 62Oct 4, 2021
Mucopolysaccharidosis, MPS-II2Oct 4, 2021
Mucopolysaccharidosis, MPS-IV-A1Oct 4, 2021
Multicentric osteolysis, nodulosis, and arthropathy1Oct 4, 2021
Multiple congenital exostosis1Oct 4, 2021
Multiple gastrointestinal atresias1Oct 4, 2021
Multisystem inflammatory syndrome in children24Nov 15, 2021
Muscle AMP deaminase deficiency2Oct 4, 2021
Muscular dystrophy, limb-girdle, autosomal dominant 41Oct 4, 2021
Muscular dystrophy, limb-girdle, autosomal recessive 231Oct 4, 2021
Muscular dystrophy-dystroglycanopathy type B51Oct 4, 2021
Myofibrillar myopathy 41Oct 4, 2021
Nemaline myopathy 24Oct 4, 2021
Nemaline myopathy 51Oct 4, 2021
Nephronophthisis 121Oct 4, 2021
Nephronophthisis 151Oct 4, 2021
Nephropathic cystinosis1Oct 4, 2021
Nephrotic syndrome, type 121Oct 4, 2021
Nephrotic syndrome, type 21Oct 4, 2021
Nephrotic syndrome, type 91Oct 4, 2021
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies1Oct 4, 2021
Neurofibromatosis, type 11Oct 4, 2021
Neutrophil immunodeficiency syndrome1Oct 4, 2021
Niemann-Pick disease, type C15Oct 4, 2021
Noonan syndrome-like disorder with loose anagen hair 11Oct 4, 2021
Obesity due to CEP19 deficiency1Oct 4, 2021
Occult macular dystrophy1Oct 4, 2021
Oculopharyngeal myopathy with leukoencephalopathy 12Oct 4, 2021
Osteogenesis imperfecta, type 181Oct 4, 2021
PMM2-congenital disorder of glycosylation1Oct 4, 2021
Parkinson disease 11, autosomal dominant, susceptibility to1Oct 4, 2021
Parkinsonian-pyramidal syndrome1Oct 4, 2021
Periodic fever-infantile enterocolitis-autoinflammatory syndrome1Oct 4, 2021
Periventricular nodular heterotopia 72Oct 4, 2021
Perrault syndrome 12Oct 4, 2021
Perrault syndrome 44Oct 4, 2021
Phenylketonuria1Oct 4, 2021
Pierpont syndrome1Oct 4, 2021
Pierson syndrome1Oct 4, 2021
Pigmentary retinal dystrophy1Oct 4, 2021
Pituitary adenoma 3, multiple types1Nov 16, 2020
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease1Oct 4, 2021
Platelet-type bleeding disorder 102Oct 4, 2021
Polycystic kidney disease 45Oct 4, 2021
Polyendocrine-polyneuropathy syndrome1Oct 4, 2021
Polyglandular autoimmune syndrome, type 11Oct 4, 2021
Pontocerebellar hypoplasia type 61Oct 4, 2021
Pontocerebellar hypoplasia, type 1D1Sep 17, 2020
Porokeratosis 7, multiple types1Oct 4, 2021
Primary ciliary dyskinesia 281Oct 4, 2021
Primary ciliary dyskinesia 291Oct 4, 2021
Primary ciliary dyskinesia 32Oct 4, 2021
Primary ciliary dyskinesia 321Oct 4, 2021
Primary ciliary dyskinesia 52Oct 4, 2021
Primary ciliary dyskinesia 61Oct 4, 2021
Primary ciliary dyskinesia 72Oct 4, 2021
Primary hypomagnesemia1Oct 4, 2021
Progressive familial intrahepatic cholestasis type 22Oct 4, 2021
Progressive myoclonic epilepsy type 71Oct 4, 2021
Progressive osseous heteroplasia1Nov 16, 2020
Progressive pseudorheumatoid dysplasia1Nov 16, 2020
Proteasome-associated autoinflammatory syndrome 11Oct 4, 2021
Pseudohypoparathyroidism1Nov 16, 2020
Pseudohypoparathyroidism type 1B1Nov 16, 2020
Pseudohypoparathyroidism type 1C1Nov 16, 2020
Pseudopseudohypoparathyroidism1Nov 16, 2020
Pseudoxanthoma elasticum1Oct 4, 2021
Psoriasis 15, pustular, susceptibility to2Oct 4, 2021
Pulmonary hypertension, primary, 31Oct 4, 2021
Pyridoxal phosphate-responsive seizures2Oct 4, 2021
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome1Oct 4, 2021
Retinitis pigmentosa 122Oct 4, 2021
Retinitis pigmentosa 253Oct 4, 2021
Retinitis pigmentosa 271Oct 4, 2021
Retinitis pigmentosa 541Oct 4, 2021
Retinitis pigmentosa 751Oct 4, 2021
Retinitis pigmentosa 811Oct 4, 2021
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency1Oct 4, 2021
STING-associated vasculopathy with onset in infancy1Oct 4, 2021
Severe combined immunodeficiency due to DCLRE1C deficiency1Oct 4, 2021
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome2Oct 4, 2021
Singleton-Merten syndrome 13Nov 16, 2020
Smith-Lemli-Opitz syndrome1Oct 4, 2021
Spermatogenic failure 231Oct 4, 2021
Spermatogenic failure 301Oct 4, 2021
Spinocerebellar ataxia 451Oct 4, 2021
Spinocerebellar ataxia type 21Oct 4, 2021
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 22Oct 4, 2021
Spondyloenchondrodysplasia with immune dysregulation1Oct 4, 2021
Squalene synthase deficiency1Oct 4, 2021
Sterile multifocal osteomyelitis with periostitis and pustulosis1Oct 4, 2021
TCF12-related craniosynostosis1Oct 4, 2021
TNF receptor-associated periodic fever syndrome (TRAPS)1Nov 16, 2020
Thrombocythemia 21Oct 4, 2021
Thrombocytopenia 21Oct 4, 2021
Thyroid dyshormonogenesis 63Oct 4, 2021
Trichohepatoenteric syndrome 12Oct 4, 2021
Trichohepatoenteric syndrome 21Oct 4, 2021
Troyer syndrome1Oct 4, 2021
Tuberous sclerosis 11Oct 4, 2021
Usher syndrome type 1D1Oct 4, 2021
Usher syndrome type 2A2Oct 4, 2021
Usher syndrome type 2C2Oct 4, 2021
Usher syndrome type 3A1Oct 4, 2021
Vanishing white matter disease1Oct 4, 2021
Vibratory urticaria2Oct 4, 2021
Wagner syndrome1Oct 4, 2021
X-linked epilepsy-learning disabilities-behavior disorders syndrome1Oct 4, 2021
X-linked intellectual disability-cerebellar hypoplasia syndrome1Oct 4, 2021
beta Thalassemia1Oct 4, 2021
not specified320Oct 4, 2021

Testing in GTR

Disease nameNumber of tests
ABCD syndrome1 test
Abdominal obesity-metabolic syndrome 31 test
Abetalipoproteinaemia1 test
Achondrogenesis type II1 test
Achondroplasia2 tests
Acquired hemoglobin H disease1 test
Acrodysostosis 1 with or without hormone resistance1 test
Acrodysostosis 2 with or without hormone resistance1 test
Acrofacial dysostosis Cincinnati type1 test
Acromelic frontonasal dysostosis1 test
Acromesomelic dysplasia 31 test
Adams-Oliver syndrome 51 test
Adrenoleukodystrophy1 test
Adult hypophosphatasia1 test
Afibrinogenemia1 test
Agammaglobulinemia 7, autosomal recessive1 test
Age related macular degeneration 11 test
Age related macular degeneration 131 test
Age related macular degeneration 141 test
Aicardi-Goutieres syndrome 21 test
Aicardi-Goutieres syndrome 31 test
Aicardi-Goutieres syndrome 41 test
Aicardi-Goutieres syndrome 51 test
Aicardi-Goutieres syndrome 61 test
Aicardi-Goutieres syndrome 71 test
Alagille syndrome due to a JAG1 point mutation2 tests
Alagille syndrome due to a NOTCH2 point mutation4 tests
Alpha-1-antitrypsin deficiency1 test
Alstrom syndrome1 test
Alveolar capillary dysplasia with pulmonary venous misalignment3 tests
Aneurysm-osteoarthritis syndrome1 test
Angelman syndrome2 tests
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis2 tests
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis2 tests
Aortic aneurysm, familial thoracic 101 test
Aortic aneurysm, familial thoracic 11, susceptibility to1 test
Aortic aneurysm, familial thoracic 41 test
Aortic aneurysm, familial thoracic 61 test
Aortic aneurysm, familial thoracic 71 test
Aortic aneurysm, familial thoracic 81 test
Aortic aneurysm, familial thoracic 91 test
Aortic valve disease 21 test
Arginine:glycine amidinotransferase deficiency1 test
Arterial tortuosity syndrome1 test
Arthrogryposis, renal dysfunction, and cholestasis 11 test
Arthrogryposis, renal dysfunction, and cholestasis 21 test
Ataxia - oculomotor apraxia type 41 test
Ataxia-telangiectasia syndrome1 test
Atrial fibrillation, familial, 72 tests
Atypical hemolytic-uremic syndrome2 tests
Atypical hemolytic-uremic syndrome with C3 anomaly1 test
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly2 tests
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly1 test
Auriculocondylar syndrome 11 test
Auriculocondylar syndrome 21 test
Auriculocondylar syndrome 31 test
Autism spectrum disorder1 test
Autoimmune interstitial lung disease-arthritis syndrome3 tests
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency1 test
Autoimmune lymphoproliferative syndrome type 41 test
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD1 test
Autoinflammatory syndrome, familial, Behcet-like2 tests
Autosomal dominant nocturnal frontal lobe epilepsy 51 test
Autosomal dominant nonsyndromic hearing loss 131 test
Autosomal dominant osteopetrosis 21 test
Autosomal recessive nonsyndromic hearing loss 1A1 test
Autosomal recessive osteopetrosis 11 test
Autosomal recessive osteopetrosis 21 test
Autosomal recessive osteopetrosis 51 test
Autosomal recessive osteopetrosis 61 test
Autosomal recessive osteopetrosis 81 test
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 191 test
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 201 test
Baller-Gerold syndrome2 tests
Bardet-Biedl syndrome 11 test
Bardet-Biedl syndrome 101 test
Bardet-Biedl syndrome 121 test
Bardet-Biedl syndrome 131 test
Bardet-Biedl syndrome 141 test
Bardet-Biedl syndrome 151 test
Bardet-Biedl syndrome 161 test
Bardet-Biedl syndrome 21 test
Bardet-Biedl syndrome 221 test
Bardet-Biedl syndrome 41 test
Bardet-Biedl syndrome 51 test
Bardet-Biedl syndrome 71 test
Bardet-Biedl syndrome 91 test
Basal cell carcinoma, susceptibility to, 11 test
Basal laminar drusen1 test
Benign familial hematuria1 test
Benign hereditary chorea1 test
Benign recurrent intrahepatic cholestasis type 11 test
Benign recurrent intrahepatic cholestasis type 21 test
Biotinidase deficiency1 test
Body mass index quantitative trait locus 41 test
Body mass index quantitative trait locus 91 test
Bohring-Opitz syndrome1 test
Bone fragility with contractures, arterial rupture, and deafness1 test
Borjeson-Forssman-Lehmann syndrome1 test
Brachydactyly type A1D1 test
Brain-lung-thyroid syndrome1 test
Branchiootic syndrome 32 tests
Branchiootorenal syndrome 22 tests
C syndrome2 tests
C1Q deficiency1 test
CFHR5 deficiency1 test
CHARGE association3 tests
Capillary malformation-arteriovenous malformation 11 test
Carcinoma of pancreas1 test
Cardiofaciocutaneous syndrome 31 test
Carotid intimal medial thickness 11 test
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11 test
Cerebral arteriovenous malformation1 test
Cerebral folate transport deficiency1 test
Cerebro-costo-mandibular syndrome1 test
Cernunnos-XLF deficiency1 test
Chitayat syndrome2 tests
Cholestasis, intrahepatic, of pregnancy, 31 test
Cholestasis, progressive familial intrahepatic, 41 test
Cholestasis, progressive familial intrahepatic, 51 test
Christianson syndrome1 test
Chylomicron retention disease1 test
Ciliary dyskinesia, primary, 372 tests
Citrullinemia type II1 test
Classic homocystinuria1 test
Cleidocranial dysostosis2 tests
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome2 tests
Cohen syndrome1 test
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness1 test
Colorectal cancer, hereditary nonpolyposis, type 81 test
Combined immunodeficiency due to DOCK8 deficiency1 test
Combined immunodeficiency due to LRBA deficiency1 test
Combined immunodeficiency due to partial RAG1 deficiency1 test
Combined immunodeficiency with skin granulomas1 test
Combined immunodeficiency, X-linked1 test
Complement component 3 deficiency1 test
Complement component 4a deficiency1 test
Complement component 4b deficiency1 test
Complement component 6 deficiency1 test
Complement component 7 deficiency1 test
Complement component 9 deficiency1 test
Complement component C1s deficiency1 test
Complement factor b deficiency1 test
Congenital bilateral aplasia of vas deferens from CFTR mutation3 tests
Congenital bile acid synthesis defect 11 test
Congenital bile acid synthesis defect 21 test
Congenital central hypoventilation1 test
Congenital chromosomal disease1 test
Congenital contractural arachnodactyly1 test
Congenital diarrhea 7 with exudative enteropathy1 test
Congenital generalized lipodystrophy type 31 test
Congenital glucose-galactose malabsorption1 test
Congenital heart defects, multiple types, 51 test
Congenital lactase deficiency1 test
Congenital malabsorptive diarrhea 41 test
Congenital microvillous atrophy2 tests
Congenital muscular hypertrophy-cerebral syndrome1 test
Congenital secretory diarrhea, chloride type1 test
Congenital secretory sodium diarrhea 31 test
Congenital secretory sodium diarrhea 81 test
Conotruncal heart malformations1 test
Corneal dystrophy, Fuchs endothelial, 31 test
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome1 test
Cornelia de Lange syndrome 11 test
Cornelia de Lange syndrome 31 test
Cornelia de Lange syndrome 51 test
Cortical dysplasia-focal epilepsy syndrome1 test
Cranioectodermal dysplasia 12 tests
Cranioectodermal dysplasia 22 tests
Cranioectodermal dysplasia 32 tests
Cranioectodermal dysplasia 41 test
Craniofacial-deafness-hand syndrome1 test
Craniofrontonasal syndrome2 tests
Craniosynostosis 22 tests
Craniosynostosis 62 tests
Creatine transporter deficiency1 test
Cryptosporidiosis-chronic cholangitis-liver disease syndrome1 test
Curry-Hall syndrome1 test
Cushing syndrome1 test
Cutis laxa, autosomal recessive, type 1A1 test
Cutis laxa, autosomal recessive, type 1B1 test
Cyclical neutropenia1 test
Cystic fibrosis3 tests
DNA ligase IV deficiency1 test
DYRK1A-related intellectual disability syndrome1 test
Deafness, congenital heart defects, and posterior embryotoxon2 tests
Deafness-lymphedema-leukemia syndrome2 tests
Deficiency of 3-hydroxyacyl-CoA dehydrogenase2 tests
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
Deficiency of acetyl-CoA acetyltransferase2 tests
Deficiency of galactokinase1 test
Deficiency of guanidinoacetate methyltransferase1 test
Dermatofibrosis lenticularis disseminata1 test
Developmental and epileptic encephalopathy, 11 test
Developmental and epileptic encephalopathy, 111 test
Developmental and epileptic encephalopathy, 21 test
Developmental and epileptic encephalopathy, 261 test
Developmental and epileptic encephalopathy, 271 test
Developmental and epileptic encephalopathy, 461 test
Developmental and epileptic encephalopathy, 581 test
Developmental and epileptic encephalopathy, 71 test
Developmental and epileptic encephalopathy, 91 test
Diabetes mellitus, transient neonatal, 32 tests
Dilated cardiomyopathy 1NN1 test
Dubin-Johnson syndrome1 test
Dyskeratosis congenita, X-linked2 tests
Dyskeratosis congenita, autosomal dominant 11 test
Dystonia 91 test
Ectodermal dysplasia and immunodeficiency 12 tests
Eculizumab, poor response to1 test
Ehlers-Danlos syndrome1 test
Ehlers-Danlos syndrome, cardiac valvular type1 test
Ehlers-Danlos syndrome, classic type, 21 test
Ehlers-Danlos syndrome, kyphoscoliotic type 11 test
Ehlers-Danlos syndrome, periodontal type 11 test
Ehlers-Danlos syndrome, type 42 tests
Ellis-van Creveld syndrome1 test
Encephalocraniocutaneous lipomatosis2 tests
Epilepsy2 tests
Epiphyseal dysplasia, multiple, 61 test
Exudative vitreoretinopathy 41 test
FG syndrome 21 test
Familial Mediterranean fever2 tests
Familial cold autoinflammatory syndrome 11 test
Familial cold autoinflammatory syndrome 22 tests
Familial cold autoinflammatory syndrome 31 test
Familial expansile osteolysis1 test
Familial pulmonary capillary hemangiomatosis2 tests
Familial spontaneous pneumothorax1 test
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young2 tests
Fanconi-Bickel syndrome1 test
Feingold syndrome type 11 test
Fibrochondrogenesis 11 test
Fibromatosis, gingival, 11 test
Fibrous dysplasia of jaw1 test
Fragile X syndrome1 test
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome1 test
Frontonasal dysplasia with alopecia and genital anomaly1 test
Frontorhiny1 test
Fructose-biphosphatase deficiency1 test
Galactosemia1 test
Generalized epilepsy with febrile seizures plus, type 21 test
Generalized pustular psoriasis1 test
Global developmental delay1 test
Glucose-6-phosphate transport defect1 test
Glycogen storage disease IXa12 tests
Glycogen storage disease IXb2 tests
Glycogen storage disease IXc2 tests
Glycogen storage disease IXd1 test
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA2 tests
Glycogen storage disease type III2 tests
Glycogen storage disease, type II1 test
Glycogen storage disease, type IV1 test
Glycogen storage disease, type VI2 tests
Glycogen storage disease, type VII1 test
Glycogen storage disorder due to hepatic glycogen synthase deficiency2 tests
Granulomatous disease, chronic, X-linked1 test
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative1 test
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 11 test
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 21 test
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 31 test
Greig cephalopolysyndactyly syndrome1 test
H syndrome1 test
Hearing loss, autosomal dominant 34, with or without inflammation1 test
Hemolytic uremic syndrome, atypical, susceptibility to, 12 tests
Hereditary angioedema type 11 test
Hereditary disease2 tests
Hereditary pancreatitis1 test
Heterotopia, periventricular, X-linked dominant1 test
Histiocytic medullary reticulosis1 test
Hyper-IgM syndrome type 11 test
Hyper-IgM syndrome type 21 test
Hyper-IgM syndrome type 51 test
Hypercholanemia, familial 11 test
Hypercholesterolemia, autosomal dominant, type B1 test
Hyperinsulinism-hyperammonemia syndrome2 tests
Hypomyelinating leukodystrophy 111 test
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome1 test
IL21-related infantile inflammatory bowel disease1 test
Immunodeficiency 1041 test
Immunodeficiency 141 test
Immunodeficiency due to MASP-2 deficiency1 test
Immunodeficiency due to ficolin3 deficiency1 test
Immunodeficiency, common variable, 11 test
Immunodeficiency, common variable, 101 test
Immunodeficiency, common variable, 121 test
Immunodeficiency, common variable, 71 test
Immunoglobulin-mediated membranoproliferative glomerulonephritis1 test
Infantile nephronophthisis2 tests
Infantile-onset periodic fever-panniculitis-dermatosis syndrome1 test
Inflammatory bowel disease 11 test
Inflammatory skin and bowel disease, neonatal, 11 test
Insulin-resistant diabetes mellitus AND acanthosis nigricans1 test
Intellectual disability, autosomal dominant 11 test
Intellectual disability, autosomal dominant 201 test
Interstitial lung disease due to ABCA3 deficiency2 tests
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked1 test
Ischemic stroke1 test
Joubert syndrome 101 test
Juvenile myelomonocytic leukemia1 test
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome1 test
KBG syndrome1 test
Kabuki syndrome 11 test
Kabuki syndrome 21 test
Kartagener syndrome2 tests
Kleefstra syndrome 11 test
LEOPARD syndrome 11 test
Lafora disease1 test
Landau-Kleffner syndrome1 test
Langer mesomelic dysplasia syndrome1 test
Larsen-like syndrome, B3GAT3 type1 test
Legius syndrome1 test
Lethal osteosclerotic bone dysplasia1 test
Leukocyte adhesion deficiency 31 test
Loeys-Dietz syndrome 12 tests
Loeys-Dietz syndrome 21 test
Loeys-Dietz syndrome 41 test
Lung carcinoma1 test
Luscan-Lumish syndrome1 test
Lymphoproliferative syndrome 21 test
Lysinuric protein intolerance2 tests
Lysosomal acid lipase deficiency1 test
MEGF8-related Carpenter syndrome2 tests
Majeed syndrome2 tests
Malignant tumor of esophagus1 test
Malignant tumor of urinary bladder1 test
Mandibulofacial dysostosis-microcephaly syndrome1 test
Maple syrup urine disease1 test
Marfan syndrome2 tests
Marshall syndrome1 test
Maturity-onset diabetes of the young type 11 test
Maturity-onset diabetes of the young type 111 test
Maturity-onset diabetes of the young type 141 test
Maturity-onset diabetes of the young type 41 test
Maturity-onset diabetes of the young type 61 test
Maturity-onset diabetes of the young type 71 test
Maturity-onset diabetes of the young type 81 test
Meconium ileus1 test
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency1 test
Metabolic myopathy due to lactate transporter defect3 tests
Mevalonic aciduria2 tests
Microvascular complications of diabetes, susceptibility to, 41 test
Miller syndrome1 test
Monocytopenia with susceptibility to infections1 test
Mowat-Wilson syndrome1 test
Multiple congenital anomalies1 test
Multiple sclerosis, susceptibility to, 52 tests
Mungan syndrome1 test
Myhre syndrome1 test
Myoclonus, familial, 21 test
Nager syndrome1 test
Neonatal acute respiratory distress due to SP-B deficiency2 tests
Neonatal ichthyosis-sclerosing cholangitis syndrome1 test
Neonatal severe primary hyperparathyroidism1 test
Niemann-Pick disease, type C11 test
Niemann-Pick disease, type C21 test
Noonan syndrome1 test
Noonan syndrome 101 test
Noonan syndrome 111 test
Noonan syndrome 81 test
Noonan syndrome 91 test
Noonan syndrome-like disorder with loose anagen hair 11 test
Noonan syndrome-like disorder with loose anagen hair 21 test
Obesity1 test
Obesity due to congenital leptin deficiency1 test
Obesity due to leptin receptor gene deficiency1 test
Obesity due to pro-opiomelanocortin deficiency1 test
Obesity due to prohormone convertase I deficiency2 tests
Oculomaxillofacial dysostosis2 tests
Osteogenesis imperfecta1 test
Osteogenesis imperfecta type I1 test
Osteogenesis imperfecta with normal sclerae, dominant form1 test
Osteopathia striata with cranial sclerosis1 test
Osteopetrosis with renal tubular acidosis1 test
Otitis media, susceptibility to1 test
Oto-palato-digital syndrome, type I1 test
Otofaciocervical syndrome 12 tests
PGM1-congenital disorder of glycosylation1 test
PMM2-congenital disorder of glycosylation1 test
Pancreatic triacylglycerol lipase deficiency1 test
Pancytopenia due to IKZF1 mutations1 test
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome1 test
Periodic fever-infantile enterocolitis-autoinflammatory syndrome1 test
Phenylketonuria1 test
Phosphate transport defect1 test
Phosphoenolpyruvate carboxykinase deficiency, cytosolic1 test
Pitt-Hopkins-like syndrome 21 test
Primary CD59 deficiency1 test
Primary ciliary dyskinesia2 tests
Primary ciliary dyskinesia 102 tests
Primary ciliary dyskinesia 112 tests
Primary ciliary dyskinesia 122 tests
Primary ciliary dyskinesia 132 tests
Primary ciliary dyskinesia 142 tests
Primary ciliary dyskinesia 152 tests
Primary ciliary dyskinesia 162 tests
Primary ciliary dyskinesia 172 tests
Primary ciliary dyskinesia 182 tests
Primary ciliary dyskinesia 192 tests
Primary ciliary dyskinesia 22 tests
Primary ciliary dyskinesia 202 tests
Primary ciliary dyskinesia 212 tests
Primary ciliary dyskinesia 222 tests
Primary ciliary dyskinesia 232 tests
Primary ciliary dyskinesia 242 tests
Primary ciliary dyskinesia 252 tests
Primary ciliary dyskinesia 262 tests
Primary ciliary dyskinesia 272 tests
Primary ciliary dyskinesia 282 tests
Primary ciliary dyskinesia 292 tests
Primary ciliary dyskinesia 32 tests
Primary ciliary dyskinesia 302 tests
Primary ciliary dyskinesia 322 tests
Primary ciliary dyskinesia 332 tests
Primary ciliary dyskinesia 52 tests
Primary ciliary dyskinesia 62 tests
Primary ciliary dyskinesia 72 tests
Primary ciliary dyskinesia 92 tests
Progeroid and marfanoid aspect-lipodystrophy syndrome1 test
Progressive sclerosing poliodystrophy1 test
Properdin deficiency, X-linked1 test
Proteasome-associated autoinflammatory syndrome 12 tests
Pseudo-TORCH syndrome 21 test
Psoriasis 15, pustular, susceptibility to1 test
Psoriasis 21 test
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 21 test
Pulmonary hypertension, primary, 12 tests
Pulmonary hypertension, primary, 22 tests
Pulmonary hypertension, primary, 42 tests
Purine-nucleoside phosphorylase deficiency1 test
Pyknodysostosis1 test
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome2 tests
Pyridoxal phosphate-responsive seizures1 test
Pyridoxine-dependent epilepsy1 test
RAB23-related Carpenter syndrome2 tests
Recurrent Neisseria infections due to factor D deficiency1 test
Retinitis pigmentosa 231 test
Retinitis pigmentosa 31 test
Retinitis pigmentosa 511 test
Retinitis pigmentosa 551 test
Retinitis pigmentosa 711 test
Retinitis pigmentosa and erythrocytic microcytosis1 test
Rett syndrome, congenital variant1 test
Rienhoff syndrome1 test
Rubinstein-Taybi syndrome due to CREBBP mutations1 test
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency1 test
STAT3-related early-onset multisystem autoimmune disease1 test
STING-associated vasculopathy with onset in infancy1 test
Sarcotubular myopathy1 test
Schaaf-Yang syndrome1 test
Schuurs-Hoeijmakers syndrome1 test
Severe combined immunodeficiency disease1 test
Severe combined immunodeficiency due to DNA-PKcs deficiency1 test
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency1 test
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency2 tests
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome1 test
Severe neonatal-onset encephalopathy with microcephaly1 test
Sex chromosome disorder of sex development1 test
Short stature-brachydactyly-obesity-global developmental delay syndrome1 test
Shprintzen-Goldberg syndrome3 tests
Spastic paraplegia, intellectual disability, nystagmus, and obesity;1 test
Spinal muscular atrophy1 test
Spondyloenchondrodysplasia with immune dysregulation1 test
Stickler syndrome1 test
Sucrase-isomaltase deficiency1 test
Supravalvar aortic stenosis1 test
Surfactant metabolism dysfunction, pulmonary, 22 tests
Surfactant metabolism dysfunction, pulmonary, 42 tests
Surfactant metabolism dysfunction, pulmonary, 52 tests
Systemic lupus erythematosus2 tests
T-B+ severe combined immunodeficiency due to JAK3 deficiency1 test
T-cell immunodeficiency, congenital alopecia, and nail dystrophy1 test
TCF12-related craniosynostosis2 tests
TWIST1-related craniosynostosis2 tests
Telangiectasia, hereditary hemorrhagic, type 12 tests
Telangiectasia, hereditary hemorrhagic, type 22 tests
Telangiectasia, hereditary hemorrhagic, type 52 tests
Thrombomodulin-related bleeding disorder1 test
Townes-Brocks syndrome 11 test
Treacher Collins syndrome 11 test
Treacher Collins syndrome 21 test
Trichohepatoenteric syndrome 11 test
Trichohepatoenteric syndrome 21 test
Type 1 diabetes mellitus 21 test
Type 1 diabetes mellitus 203 tests
Type 2 diabetes mellitus3 tests
Type I complement component 8 deficiency1 test
Type II complement component 8 deficiency1 test
UDPglucose-4-epimerase deficiency1 test
Unverricht-Lundborg syndrome1 test
Vasculitis due to ADA2 deficiency3 tests
Waardenburg syndrome type 11 test
Waardenburg syndrome type 2D1 test
Waardenburg syndrome type 4C1 test
Warts, hypogammaglobulinemia, infections, and myelokathexis1 test
X-linked Alport syndrome2 tests
X-linked agammaglobulinemia1 test
X-linked cone-rod dystrophy 11 test
X-linked intellectual disability Cabezas type1 test
X-linked intellectual disability with marfanoid habitus1 test
X-linked intellectual disability-cerebellar hypoplasia syndrome1 test
X-linked lymphoproliferative disease due to SH2D1A deficiency1 test
X-linked lymphoproliferative disease due to XIAP deficiency1 test
X-linked reticulate pigmentary disorder1 test
X-linked severe congenital neutropenia1 test
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