Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory (Cincinnati Children's Hospital Medical Center)

General information

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory
Cincinnati Children's Hospital Medical Center
3333 Burnet Ave ML 4006
Cincinnati
Ohio
United States - 45229-3039
https://www.cincinnatichildrens.org/service/g/genetics-genomics-diagnostic-lab
Organization ID: 1237

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 17788

Gene

GeneSubmissionsLast Updated
AATK1Apr 11, 2018
ABAT1Apr 11, 2018
ABCA13Apr 11, 2018
ABCA133Apr 11, 2018
ABCB13Apr 11, 2018
ABCB101Apr 11, 2018
ABCB52Apr 11, 2018
ABCB71Apr 11, 2018
ABCC11Apr 11, 2018
ABCC63Apr 11, 2018
ABCG12Apr 11, 2018
ABCG21Apr 11, 2018
ABI3BP6Apr 11, 2018
ABL12Apr 11, 2018
ABLIM23Apr 11, 2018
ABO4Apr 11, 2018
ABR35Apr 11, 2018
ABTB27Apr 11, 2018
ACER31Apr 11, 2018
ACOT113Apr 11, 2018
ACOT73Apr 11, 2018
ACTB1Apr 11, 2018
ACYP12Apr 11, 2018
ACYP22Apr 11, 2018
ADA1Apr 11, 2018
ADAD11Apr 11, 2018
ADAD21Apr 11, 2018
ADAM331Apr 11, 2018
ADAMTS121Apr 11, 2018
ADAMTS131Apr 11, 2018
ADAMTS141Apr 11, 2018
ADAMTS171Apr 11, 2018
ADAMTS191Apr 11, 2018
ADAMTS61Apr 11, 2018
ADAMTSL34Apr 11, 2018
ADAP112Apr 11, 2018
ADARB26Apr 11, 2018
ADCK13Apr 11, 2018
ADCY24Apr 11, 2018
ADCY83Apr 11, 2018
ADGRB37Apr 11, 2018
ADGRE310Apr 11, 2018
ADGRL43Apr 11, 2018
ADGRV12Apr 11, 2018
AGAP13Apr 11, 2018
AGAP115Apr 11, 2018
AGBL413Apr 11, 2018
AGGF13Apr 11, 2018
AGMO6Apr 11, 2018
AGRN5Apr 11, 2018
AHCTF15Apr 11, 2018
AHNAK1Apr 11, 2018
AHRR2Apr 11, 2018
AK11Apr 11, 2018
AK51Apr 11, 2018
AK81Apr 11, 2018
AKAP122Apr 11, 2018
AKAP131Apr 11, 2018
AKAP63Apr 11, 2018
AKAP95Apr 11, 2018
AKNAD11Apr 11, 2018
AKR1C41Apr 11, 2018
AKT35Apr 11, 2018
ALDH16A12Apr 11, 2018
ALDH9A11Apr 11, 2018
ALK2Apr 11, 2018
ALLC4Apr 11, 2018
ALPK12Apr 11, 2018
ALPK31Apr 11, 2018
AMFR1Apr 11, 2018
AMOT1Apr 11, 2018
AMPH7Apr 11, 2018
AMZ15Apr 11, 2018
ANGPT11Apr 11, 2018
ANK21Apr 11, 2018
ANK36Apr 11, 2018
ANKK11Apr 11, 2018
ANKMY21Apr 11, 2018
ANKRD283Apr 11, 2018
ANKRD30A2Apr 11, 2018
ANKRD33B8Apr 11, 2018
ANKRD36C2Apr 11, 2018
ANKRD554Apr 11, 2018
ANKS1B9Apr 11, 2018
ANO11Apr 11, 2018
ANO25Apr 11, 2018
ANO36Apr 11, 2018
ANO51Apr 11, 2018
ANOS12Apr 11, 2018
ANTXR21Apr 11, 2018
AOAH1Apr 11, 2018
AP3D12Apr 11, 2018
APBA12Apr 11, 2018
APC21Apr 11, 2018
APOLD11Apr 11, 2018
APP2Apr 11, 2018
APPBP21Apr 11, 2018
APRG11Apr 11, 2018
AQP53Apr 11, 2018
ARFGEF12Apr 11, 2018
ARHGAP101Apr 11, 2018
ARHGAP153Apr 11, 2018
ARHGAP243Apr 11, 2018
ARHGAP262Apr 11, 2018
ARHGAP394Apr 11, 2018
ARHGAP51Apr 11, 2018
ARHGEF109Apr 11, 2018
ARHGEF10L1Apr 11, 2018
ARHGEF37Apr 11, 2018
ARID1B1Apr 11, 2018
ARIH24Apr 11, 2018
ARL13B4Apr 11, 2018
ARL151Apr 11, 2018
ARMH41Apr 11, 2018
ARNTL1Apr 11, 2018
ARSB11Apr 11, 2018
ART11Apr 11, 2018
ART32Apr 11, 2018
ASAP15Apr 11, 2018
ASAP21Apr 11, 2018
ASB121Apr 11, 2018
ASB161Apr 11, 2018
ASCC11Apr 11, 2018
ASIC22Apr 11, 2018
ASPG1Apr 11, 2018
ASPM1Apr 11, 2018
ASTN23Apr 11, 2018
ATAD3B4Apr 11, 2018
ATG101Apr 11, 2018
ATG71Apr 11, 2018
ATP10A2Apr 11, 2018
ATP10B1Apr 11, 2018
ATP11A3Apr 11, 2018
ATP11AUN6Apr 11, 2018
ATP13A41Apr 11, 2018
ATP2B43Apr 11, 2018
ATP2C23Apr 11, 2018
ATP8A22Apr 11, 2018
ATP9B6Apr 11, 2018
ATXN17Apr 11, 2018
ATXN213Apr 11, 2018
AUH1Apr 11, 2018
AUTS22Apr 11, 2018
AVL91Apr 11, 2018
AXDND113Apr 11, 2018
B3GNTL16Apr 11, 2018
B4GALNT33Apr 11, 2018
BAHCC11Apr 11, 2018
BAIAP2L12Apr 11, 2018
BANK12Apr 11, 2018
BBS91Apr 11, 2018
BCAR14Apr 11, 2018
BCAR31Apr 11, 2018
BCAS12Apr 11, 2018
BCAS33Apr 11, 2018
BCL11A2Apr 11, 2018
BCL11B2Apr 11, 2018
BCL2L133Apr 11, 2018
BCR8Apr 11, 2018
BDKRB21Apr 11, 2018
BDP112Apr 11, 2018
BICC11Apr 11, 2018
BICD13Apr 11, 2018
BICRA1Apr 11, 2018
BLK1Apr 11, 2018
BMP61Apr 11, 2018
BMP71Apr 11, 2018
BMPR1A1Jun 29, 2018
BMPR1B1Apr 11, 2018
BOK2Apr 11, 2018
BOLL1Apr 11, 2018
BORCS51Apr 11, 2018
BPHL10Apr 11, 2018
BPIFB31Apr 11, 2018
BRCA27Apr 11, 2018
BRI31Apr 11, 2018
BRINP31Apr 11, 2018
BRIP11Apr 11, 2018
BTBD21Apr 11, 2018
BTBD71Apr 11, 2018
BTBD92Apr 11, 2018
BTG11Apr 11, 2018
BTRC1Apr 11, 2018
BZW21Apr 11, 2018
C10orf531Apr 11, 2018
C11orf531Apr 11, 2018
C11orf652Apr 11, 2018
C12orf421Apr 11, 2018
C1GALT11Apr 11, 2018
C21orf911Apr 11, 2018
C2CD22Apr 11, 2018
C2CD62Apr 11, 2018
C2orf27A1Apr 11, 2018
C2orf736Apr 11, 2018
C3orf332Apr 11, 2018
C4BPA7Apr 11, 2018
C4orf192Apr 11, 2018
C7orf762Apr 11, 2018
C8orf341Apr 11, 2018
CA101Apr 11, 2018
CAB39L1Apr 11, 2018
CABLES13Apr 11, 2018
CACNA1B4Apr 11, 2018
CACNA1C3Apr 11, 2018
CACNA1H3Apr 11, 2018
CACNA2D11Apr 11, 2018
CACNG42Apr 11, 2018
CADM26Apr 11, 2018
CADPS4Apr 11, 2018
CALN13Apr 11, 2018
CAMK1D1Apr 11, 2018
CAMK2B7Apr 11, 2018
CAMKMT2Apr 11, 2018
CAMTA113Apr 11, 2018
CANT11Apr 11, 2018
CARD111Apr 11, 2018
CARD141Apr 11, 2018
CARMIL12Apr 11, 2018
CARS22Apr 11, 2018
CASK1Apr 11, 2018
CASR3Apr 11, 2018
CASS42Apr 11, 2018
CBFA2T31Apr 11, 2018
CBLB1Apr 11, 2018
CCDC1412Apr 11, 2018
CCDC1481Apr 11, 2018
CCDC1491Apr 11, 2018
CCDC1782Apr 11, 2018
CCDC181Apr 11, 2018
CCDC572Apr 11, 2018
CCDC661Apr 11, 2018
CCDC85A1Apr 11, 2018
CCDC85C3Apr 11, 2018
CCDC88B1Apr 11, 2018
CCPG11Apr 11, 2018
CCSER123Apr 11, 2018
CD2AP4Apr 11, 2018
CD363Apr 11, 2018
CDC273Apr 11, 2018
CDC341Apr 11, 2018
CDC42BPG1Apr 11, 2018
CDC731Apr 11, 2018
CDH11Apr 11, 2018
CDH122Apr 11, 2018
CDH131Apr 11, 2018
CDH184Apr 11, 2018
CDH191Apr 11, 2018
CDH44Apr 11, 2018
CDK146Apr 11, 2018
CDK61Apr 11, 2018
CDKAL14Apr 11, 2018
CDKL13Apr 11, 2018
CDKL54Apr 11, 2018
CDKN2B-AS11Apr 11, 2018
CDV32Apr 11, 2018
CELF41Apr 11, 2018
CELF51Apr 11, 2018
CELSR21Apr 11, 2018
CENPC2Apr 11, 2018
CEP1703Apr 11, 2018
CEP2906Apr 11, 2018
CEP441Apr 11, 2018
CEP85L2Apr 11, 2018
CEP891Apr 11, 2018
CES16Apr 11, 2018
CFAP20DC9Apr 11, 2018
CFAP2992Apr 11, 2018
CFAP571Apr 11, 2018
CFAP611Apr 11, 2018
CFAP971Apr 11, 2018
CFH1Apr 11, 2018
CFHR31Apr 11, 2018
CHCHD67Apr 11, 2018
CHD76Apr 11, 2018
CHD92Apr 11, 2018
CHIC15Apr 11, 2018
CHL12Apr 11, 2018
CHMP1A1Apr 11, 2018
CHN21Apr 11, 2018
CHODL1Apr 11, 2018
CHPT11Apr 11, 2018
CHRDL12Apr 11, 2018
CHRM31Apr 11, 2018
CHST72Apr 11, 2018
CHST81Apr 11, 2018
CHST94Apr 11, 2018
CISD21Apr 11, 2018
CLCA43Apr 11, 2018
CLCC12Apr 11, 2018
CLCNKB1Apr 11, 2018
CLEC16A3Apr 11, 2018
CLMP1Apr 11, 2018
CLNK1Apr 11, 2018
CLPTM12Apr 11, 2018
CLSTN22Apr 11, 2018
CMIP1Apr 11, 2018
CMSS14Apr 11, 2018
CMTM83Apr 11, 2018
CNGB11Apr 11, 2018
CNGB33Apr 11, 2018
CNN21Apr 11, 2018
CNOT11Apr 11, 2018
CNOT21Apr 11, 2018
CNOT6L4Apr 11, 2018
CNST1Apr 11, 2018
CNTLN1Apr 11, 2018
CNTN46Apr 11, 2018
CNTN515Apr 11, 2018
CNTN62Apr 11, 2018
CNTNAP215Apr 11, 2018
CNTNAP44Apr 11, 2018
CNTNAP53Apr 11, 2018
COL10A11Apr 11, 2018
COL11A130Apr 11, 2018
COL1A11Apr 11, 2018
COL23A12Apr 11, 2018
COL24A13Apr 11, 2018
COL3A18Apr 11, 2018
COL4A44Apr 11, 2018
COL5A12Apr 11, 2018
COL5A21Apr 11, 2018
COL6A22Apr 11, 2018
COL6A55Apr 11, 2018
COLEC101Apr 11, 2018
COMMD103Apr 11, 2018
CORIN1Apr 11, 2018
CORO2A1Apr 11, 2018
CPAMD81Apr 11, 2018
CPM1Apr 11, 2018
CPNE46Apr 11, 2018
CPNE71Apr 11, 2018
CPPED11Apr 11, 2018
CPVL1Apr 11, 2018
CR113Apr 11, 2018
CR1L1Apr 11, 2018
CRB21Apr 11, 2018
CRCP2Apr 11, 2018
CREB3L23Apr 11, 2018
CREB52Apr 11, 2018
CRHR11Apr 11, 2018
CRLF11Apr 11, 2018
CRNKL11Apr 11, 2018
CRPPA6Apr 11, 2018
CRYM1Apr 11, 2018
CRYZ1Apr 11, 2018
CSGALNACT14Apr 11, 2018
CSMD131Apr 11, 2018
CSMD21Apr 11, 2018
CSMD38Apr 11, 2018
CSNK1G21Apr 11, 2018
CTDP11Apr 11, 2018
CTDSPL4Apr 11, 2018
CTNNA21Apr 11, 2018
CTNNA320Apr 11, 2018
CTNND29Apr 11, 2018
CTSE1Apr 11, 2018
CUBN3Apr 11, 2018
CUX15Apr 11, 2018
CUX23Apr 11, 2018
CYB5B1Apr 11, 2018
CYP26C11Apr 11, 2018
CYP2B61Apr 11, 2018
CYP2C192Apr 11, 2018
CYP3A431Apr 11, 2018
CYP4F111Apr 11, 2018
CYP4F127Apr 11, 2018
CYP4F21Apr 11, 2018
D2HGDH2Apr 11, 2018
DACH23Apr 11, 2018
DACT23Apr 11, 2018
DAP34Apr 11, 2018
DAPL12Apr 11, 2018
DAZL3Apr 11, 2018
DCC6Apr 11, 2018
DCDC25Apr 11, 2018
DCLK14Apr 11, 2018
DDX102Apr 11, 2018
DENND1A3Apr 11, 2018
DENND4C6Apr 11, 2018
DENND5B3Apr 11, 2018
DGKB2Apr 11, 2018
DGKD1Apr 11, 2018
DHFR2Apr 11, 2018
DHRS123Apr 11, 2018
DIAPH210Apr 11, 2018
DIAPH32Apr 11, 2018
DIO11Apr 11, 2018
DIP2A1Apr 11, 2018
DIP2B2Apr 11, 2018
DIP2C12Apr 11, 2018
DISC11Apr 11, 2018
DISP32Apr 11, 2018
DLC13Apr 11, 2018
DLG12Apr 11, 2018
DLG213Apr 11, 2018
DLGAP15Apr 11, 2018
DLGAP21Apr 11, 2018
DMBT17Apr 11, 2018
DMD25Apr 11, 2018
DNAAF21Apr 11, 2018
DNAAF91Apr 11, 2018
DNAH142Apr 11, 2018
DNAH91Apr 11, 2018
DNMT3A2Apr 11, 2018
DOC2B3Apr 11, 2018
DOCK13Apr 11, 2018
DOCK22Apr 11, 2018
DOCK53Apr 11, 2018
DOCK71Apr 11, 2018
DOCK812Apr 11, 2018
DOK51Apr 11, 2018
DOK72Apr 11, 2018
DPH61Apr 11, 2018
DPP1012Apr 11, 2018
DPP91Apr 11, 2018
DPY19L14Apr 11, 2018
DPYD4Apr 11, 2018
DPYSL31Apr 11, 2018
DSCAM1Apr 11, 2018
DYNC2I21Apr 11, 2018
DZIP32Apr 11, 2018
EBF42Apr 11, 2018
ECPAS2Apr 11, 2018
ECT2L1Apr 11, 2018
EDAR1Apr 11, 2018
EDARADD1Apr 11, 2018
EEA11Apr 11, 2018
EFCAB132Apr 11, 2018
EFCAB51Apr 11, 2018
EFCAB81Apr 11, 2018
EGF2Apr 11, 2018
EGFR8Apr 11, 2018
EHMT11Apr 11, 2018
EIF3E2Apr 11, 2018
EIF4E312Apr 11, 2018
ELOVL61Apr 11, 2018
ELOVL73Apr 11, 2018
ELP11Apr 11, 2018
ELP45Apr 11, 2018
EMID111Apr 11, 2018
EMILIN32Apr 11, 2018
EML11Apr 11, 2018
EML61Apr 11, 2018
ENOX15Apr 11, 2018
EPB41L21Apr 11, 2018
EPHA32Apr 11, 2018
EPHA71Apr 11, 2018
EPHX21Apr 11, 2018
EPPK16Apr 11, 2018
ERBB411Apr 11, 2018
ERBIN5Apr 11, 2018
ERC15Apr 11, 2018
ERC21Apr 11, 2018
ERCC81Apr 11, 2018
ERICH12Apr 11, 2018
ERO1B1Apr 11, 2018
ERP441Apr 11, 2018
ESPNL8Apr 11, 2018
ESR14Apr 11, 2018
ESRRG1Apr 11, 2018
ETAA12Apr 11, 2018
ETV63Apr 11, 2018
EVC1Apr 11, 2018
EVPL1Apr 11, 2018
EWSR11Apr 11, 2018
EXOC25Apr 11, 2018
EXOC3L14Apr 11, 2018
EXOC3L41Apr 11, 2018
EXOC62Apr 11, 2018
EXT12Apr 11, 2018
EYA112Apr 11, 2018
EYA42Apr 11, 2018
EYS22Apr 11, 2018
FAF11Apr 11, 2018
FAM117A1Apr 11, 2018
FAM157A1Apr 11, 2018
FAM189A11Apr 11, 2018
FAM20C2Apr 11, 2018
FAM222B1Apr 11, 2018
FAM83F1Apr 11, 2018
FAM83H7Apr 11, 2018
FANCA1Apr 11, 2018
FANCL1Apr 11, 2018
FANCM2Apr 11, 2018
FARP11Apr 11, 2018
FARP21Apr 11, 2018
FARS22Apr 11, 2018
FAT42Apr 11, 2018
FBF11Apr 11, 2018
FBRSL11Apr 11, 2018
FBXL173Apr 11, 2018
FBXL202Apr 11, 2018
FBXO52Apr 11, 2018
FBXW74Apr 11, 2018
FCER25Apr 11, 2018
FCGBP1Apr 11, 2018
FER1L63Apr 11, 2018
FEV1Apr 11, 2018
FGF126Apr 11, 2018
FGF131Apr 11, 2018
FGFBP32Apr 11, 2018
FGFR21Apr 11, 2018
FGGY4Apr 11, 2018
FGL11Apr 11, 2018
FHAD11Apr 11, 2018
FHDC12Apr 11, 2018
FHIT20Apr 11, 2018
FIG41Apr 11, 2018
FIGNL21Apr 11, 2018
FILIP11Apr 11, 2018
FILIP1L3Apr 11, 2018
FKBP56Apr 11, 2018
FLNC1Apr 11, 2018
FLT45Apr 11, 2018
FLYWCH11Apr 11, 2018
FMN28Apr 11, 2018
FMNL31Apr 11, 2018
FNDC3B6Apr 11, 2018
FNIP26Apr 11, 2018
FOXD12Apr 11, 2018
FOXJ32Apr 11, 2018
FOXP12Apr 11, 2018
FOXP42Apr 11, 2018
FPGT-TNNI3K2Apr 11, 2018
FREM11Apr 11, 2018
FRMPD41Apr 11, 2018
FRYL10Apr 11, 2018
FSHR1Apr 11, 2018
FSIP21Apr 11, 2018
FSTL11Apr 11, 2018
FSTL57Apr 11, 2018
FTSJ11Apr 11, 2018
FUT21Apr 11, 2018
FUT83Apr 11, 2018
FUT91Apr 11, 2018
FXN2Apr 11, 2018
GABBR22Apr 11, 2018
GABRA53Apr 11, 2018
GABRB35Apr 11, 2018
GABRG33Apr 11, 2018
GABRR15Apr 11, 2018
GALC1Apr 11, 2018
GALK21Apr 11, 2018
GALNS1Apr 11, 2018
GALNT101Apr 11, 2018
GALNT151Apr 11, 2018
GALNT183Apr 11, 2018
GALNT71Apr 11, 2018
GALNTL65Apr 11, 2018
GAREM12Apr 11, 2018
GARNL31Apr 11, 2018
GAS63Apr 11, 2018
GATA32Apr 11, 2018
GATM2Apr 11, 2018
GBA31Apr 11, 2018
GBE12Apr 11, 2018
GBP34Apr 11, 2018
GCC21Apr 11, 2018
GCFC21Apr 11, 2018
GET41Apr 11, 2018
GHR4Apr 11, 2018
GLDC1Apr 11, 2018
GLI27Apr 11, 2018
GLIS36Apr 11, 2018
GLRA11Apr 11, 2018
GLRA34Apr 11, 2018
GLT1D12Apr 11, 2018
GMDS2Apr 11, 2018
GNA141Apr 11, 2018
GNAL3Apr 11, 2018
GNAS2Apr 11, 2018
GNB1L1Apr 11, 2018
GOLGA31Apr 11, 2018
GOLM21Apr 11, 2018
GP63Apr 11, 2018
GPATCH81Apr 11, 2018
GPC31Apr 11, 2018
GPC587Apr 11, 2018
GPC614Apr 11, 2018
GPHN6Apr 11, 2018
GPM6A1Apr 11, 2018
GPM6B1Apr 11, 2018
GPR1501Apr 11, 2018
GPR1582Apr 11, 2018
GPR393Apr 11, 2018
GPR883Apr 11, 2018
GPRIN11Apr 11, 2018
GRAMD1C2Apr 11, 2018
GRHL22Apr 11, 2018
GRIA32Apr 11, 2018
GRID12Apr 11, 2018
GRID28Apr 11, 2018
GRIK11Apr 11, 2018
GRIK26Apr 11, 2018
GRIK35Apr 11, 2018
GRIK52Apr 11, 2018
GRIN3A1Apr 11, 2018
GRIP17Apr 11, 2018
GRM58Apr 11, 2018
GRM76Apr 11, 2018
GSDMD2Apr 11, 2018
GSG1L1Apr 11, 2018
GSTCD1Apr 11, 2018
GTF2A1L1Apr 11, 2018
GTF2I1Apr 11, 2018
GUCY1A14Apr 11, 2018
GUCY1A25Apr 11, 2018
GXYLT11Apr 11, 2018
H2AZ11Apr 11, 2018
HABP41Apr 11, 2018
HACE11Apr 11, 2018
HAT11Apr 11, 2018
HAVCR11Apr 11, 2018
HBA24Apr 11, 2018
HBB1Apr 11, 2018
HBS1L2Apr 11, 2018
HCN16Apr 11, 2018
HCN47Apr 11, 2018
HDAC81Apr 11, 2018
HDAC91Apr 11, 2018
HECW21Apr 11, 2018
HELZ210Apr 11, 2018
HERC24Apr 11, 2018
HGFAC1Apr 11, 2018
HHAT5Apr 11, 2018
HIVEP21Apr 11, 2018
HIVEP31Apr 11, 2018
HMCN13Apr 11, 2018
HMGCLL11Apr 11, 2018
HMGN51Apr 11, 2018
HOOK11Apr 11, 2018
HOPX5Apr 11, 2018
HP2Apr 11, 2018
HPCAL11Apr 11, 2018
HPSE23Apr 11, 2018
HR1Apr 11, 2018
HS6ST28Apr 11, 2018
HS6ST33Apr 11, 2018
HSD17B71Apr 11, 2018
HSF2BP2Apr 11, 2018
HTR2A1Apr 11, 2018
ID41Apr 11, 2018
IDUA1Apr 11, 2018
IFI161Apr 11, 2018
IFNAR11Apr 11, 2018
IFT523Apr 11, 2018
IFT745Apr 11, 2018
IFT881Apr 11, 2018
IFTAP5Apr 11, 2018
IGFALS4Apr 11, 2018
IGH2Apr 11, 2018
IGSF112Apr 11, 2018
IKZF33Apr 11, 2018
IL12RB11Apr 11, 2018
IL1RAPL112Apr 11, 2018
IL1RAPL22Apr 11, 2018
IL1RL11Apr 11, 2018
IL4R3Apr 11, 2018
IMMP2L12Apr 11, 2018
INPP4B1Apr 11, 2018
INPP5A2Apr 11, 2018
INSYN2A1Apr 11, 2018
INTS41Apr 11, 2018
IPCEF13Apr 11, 2018
IPO111Apr 11, 2018
IPO51Apr 11, 2018
IPP3Apr 11, 2018
IQCG1Apr 11, 2018
IQCJ1Apr 11, 2018
IQCJ-SCHIP13Apr 11, 2018
IQCN1Apr 11, 2018
IQGAP21Apr 11, 2018
IQSEC32Apr 11, 2018
IRAK21Apr 11, 2018
IRF21Apr 11, 2018
IRS21Apr 11, 2018
ITGAM1Apr 11, 2018
ITGB55Apr 11, 2018
ITIH21Apr 11, 2018
ITPK12Apr 11, 2018
ITPRID11Apr 11, 2018
ITSN21Apr 11, 2018
JAK21Apr 11, 2018
JARID22Apr 11, 2018
JAZF11Apr 11, 2018
JPH31Apr 11, 2018
JPX5Apr 11, 2018
KANK14Apr 11, 2018
KANSL1110Apr 11, 2018
KAZN1Apr 11, 2018
KBTBD112Apr 11, 2018
KCNA61Apr 11, 2018
KCNAB12Apr 11, 2018
KCNAB22Apr 11, 2018
KCNB24Apr 11, 2018
KCNC21Apr 11, 2018
KCNG28Apr 11, 2018
KCNH51Apr 11, 2018
KCNIP11Apr 11, 2018
KCNIP46Apr 11, 2018
KCNJ122Apr 11, 2018
KCNJ151Apr 11, 2018
KCNMA12Apr 11, 2018
KCNMB23Apr 11, 2018
KCNN31Apr 11, 2018
KCNQ11Apr 11, 2018
KCNQ31Apr 11, 2018
KCNT21Apr 11, 2018
KCTD81Apr 11, 2018
KDM2A5Apr 11, 2018
KDM4C6Apr 11, 2018
KDM7A1Apr 11, 2018
KHDRBS25Apr 11, 2018
KHDRBS32Apr 11, 2018
KIAA08251Apr 11, 2018
KIAA09301Apr 11, 2018
KIAA11091Apr 11, 2018
KIAA12177Apr 11, 2018
KIAA13281Apr 11, 2018
KIAA16711Apr 11, 2018
KIF191Apr 11, 2018
KIF1B2Apr 11, 2018
KIF20B2Apr 11, 2018
KIF26A5Apr 11, 2018
KIF26B2Apr 11, 2018
KIF72Apr 11, 2018
KIRREL31Apr 11, 2018
KLHL13Apr 11, 2018
KLHL2410Apr 11, 2018
KLHL266Apr 11, 2018
KLHL321Apr 11, 2018
KLHL71Apr 11, 2018
KMT2A1Apr 11, 2018
KNDC11Apr 11, 2018
KPNA42Apr 11, 2018
KRBA11Apr 11, 2018
KRT773Apr 11, 2018
L1TD11Apr 11, 2018
LAMA59Apr 11, 2018
LAPTM4B2Apr 11, 2018
LARGE115Apr 11, 2018
LARS21Apr 11, 2018
LEMD31Apr 11, 2018
LEPR1Apr 11, 2018
LEXM1Apr 11, 2018
LGALS81Apr 11, 2018
LGI15Apr 11, 2018
LGR51Apr 11, 2018
LHFPL31Apr 11, 2018
LHFPL41Apr 11, 2018
LHFPL63Apr 11, 2018
LHPP4Apr 11, 2018
LHX44Apr 11, 2018
LIFR11Apr 11, 2018
LINC015201Apr 11, 2018
LINC027431Apr 11, 2018
LINGO218Apr 11, 2018
LLGL22Apr 11, 2018
LMF25Apr 11, 2018
LMNTD15Apr 11, 2018
LMO71Apr 11, 2018
LMX1B1Apr 11, 2018
LOC6547801Apr 11, 2018
LOXL11Apr 11, 2018
LPA1Apr 11, 2018
LPAR11Apr 11, 2018
LPCAT11Apr 11, 2018
LPP1Apr 11, 2018
LRBA2Apr 11, 2018
LRFN23Apr 11, 2018
LRFN51Apr 11, 2018
LRP1B5Apr 11, 2018
LRP85Apr 11, 2018
LRRC2711Apr 11, 2018
LRRC3B1Apr 11, 2018
LRRC4C5Apr 11, 2018
LRRC8B1Apr 11, 2018
LRRCC13Apr 11, 2018
LRRFIP110Apr 11, 2018
LRRN45Apr 11, 2018
LRRTM45Apr 11, 2018
LSAMP1Apr 11, 2018
LSS1Apr 11, 2018
LTC4S1Apr 11, 2018
LUZP25Apr 11, 2018
LYRM43Apr 11, 2018
MACC11Apr 11, 2018
MACROD229Apr 11, 2018
MAD1L113Apr 11, 2018
MADCAM11Apr 11, 2018
MAGI12Apr 11, 2018
MAGI23Apr 11, 2018
MAGT15Apr 11, 2018
MAMDC21Apr 11, 2018
MAMDC47Apr 11, 2018
MAML22Apr 11, 2018
MAML31Apr 11, 2018
MAN1B11Apr 11, 2018
MAP2K52Apr 11, 2018
MAP3K18Apr 11, 2018
MAP3K153Apr 11, 2018
MAP41Apr 11, 2018
MAP6D12Apr 11, 2018
MAP71Apr 11, 2018
MAPK1015Apr 11, 2018
MAPK8IP21Apr 11, 2018
MARCHF15Apr 11, 2018
MARCHF116Apr 11, 2018
MARVELD21Apr 11, 2018
MBD519Apr 11, 2018
MBL21Apr 11, 2018
MCC7Apr 11, 2018
MCEE1Apr 11, 2018
MCF2L21Apr 11, 2018
MCM3AP1Apr 11, 2018
MCPH11Apr 11, 2018
MCTP11Apr 11, 2018
MCTP22Apr 11, 2018
MDGA25Apr 11, 2018
ME32Apr 11, 2018
MECP23Apr 11, 2018
MED13L5Apr 11, 2018
MED161Apr 11, 2018
MEF2C5Apr 11, 2018
MEGF62Apr 11, 2018
MELTF1Apr 11, 2018
MEOX21Apr 11, 2018
METAP1D5Apr 11, 2018
METTL162Apr 11, 2018
METTL241Apr 11, 2018
MFHAS18Apr 11, 2018
MGAM7Apr 11, 2018
MGAT4C11Apr 11, 2018
MGLL2Apr 11, 2018
MGST38Apr 11, 2018
MIB21Apr 11, 2018
MID13Apr 11, 2018
MINAR110Apr 11, 2018
MINPP14Apr 11, 2018
MIPOL13Apr 11, 2018
MIR17HG1Apr 11, 2018
MIR4500HG2Apr 11, 2018
MITF11Apr 11, 2018
MLIP2Apr 11, 2018
MLLT31Apr 11, 2018
MLPH3Apr 11, 2018
MME1Apr 11, 2018
MMP163Apr 11, 2018
MMRN22Apr 11, 2018
MORF4L12Apr 11, 2018
MOXD11Apr 11, 2018
MPDZ1Apr 11, 2018
MPP71Apr 11, 2018
MROH2A2Apr 11, 2018
MROH53Apr 11, 2018
MROH81Apr 11, 2018
MRPS91Apr 11, 2018
MRTFA2Apr 11, 2018
MSH41Apr 11, 2018
MSI21Apr 11, 2018
MSLN1Apr 11, 2018
MSRA2Apr 11, 2018
MTBP1Apr 11, 2018
MTERF31Apr 11, 2018
MTHFD2L1Apr 11, 2018
MTMR12Apr 11, 2018
MTMR122Apr 11, 2018
MTMR35Apr 11, 2018
MTUS15Apr 11, 2018
MTUS22Apr 11, 2018
MUC162Apr 11, 2018
MUC175Apr 11, 2018
MUC195Apr 11, 2018
MUC29Apr 11, 2018
MUC3A1Apr 11, 2018
MUC63Apr 11, 2018
MUSK1Apr 11, 2018
MYH111Apr 11, 2018
MYH41Apr 11, 2018
MYO101Apr 11, 2018
MYO18B1Apr 11, 2018
MYO5B1Apr 11, 2018
MYO7A1Apr 11, 2018
MYO9A7Apr 11, 2018
MYO9B2Apr 11, 2018
MYOM24Apr 11, 2018
MYT1L2Apr 11, 2018
NAA101Apr 27, 2020
NAA154Apr 11, 2018
NAALADL23Apr 11, 2018
NAIP1Apr 11, 2018
NALCN5Apr 11, 2018
NALF11Apr 11, 2018
NBAS1Apr 11, 2018
NBEA15Apr 11, 2018
NBEAL11Apr 11, 2018
NBN1Apr 11, 2018
NBPF81Apr 11, 2018
NCAM23Apr 11, 2018
NCAPD31Apr 11, 2018
NCAPG25Apr 11, 2018
NCK21Apr 11, 2018
NCKAP54Apr 11, 2018
NCOA71Apr 11, 2018
NCOR24Apr 11, 2018
NDST41Apr 11, 2018
NDUFAF23Apr 11, 2018
NECAB26Apr 11, 2018
NECAB31Apr 11, 2018
NEDD41Apr 11, 2018
NEDD4L3Apr 11, 2018
NEGR13Apr 11, 2018
NELL15Apr 11, 2018
NETO21Apr 11, 2018
NF135Apr 11, 2018
NFIA1Apr 11, 2018
NFIB2Apr 11, 2018
NFYB5Apr 11, 2018
NHS4Apr 11, 2018
NIBAN11Apr 11, 2018
NID11Apr 11, 2018
NIN1Apr 11, 2018
NINL4Apr 11, 2018
NIPBL3Apr 11, 2018
NKAIN24Apr 11, 2018
NKAIN32Apr 11, 2018
NLGN14Apr 11, 2018
NLRC38Apr 11, 2018
NLRX12Apr 11, 2018
NME75Apr 11, 2018
NME82Apr 11, 2018
NMRK22Apr 11, 2018
NOS1AP1Apr 11, 2018
NOTCH12Apr 11, 2018
NOTCH21Apr 11, 2018
NOTCH32Apr 11, 2018
NPAS32Apr 11, 2018
NPFFR21Apr 11, 2018
NPL4Apr 11, 2018
NPSR12Apr 11, 2018
NR2F21Apr 11, 2018
NR3C16Apr 11, 2018
NR3C23Apr 11, 2018
NRCAM1Apr 11, 2018
NRG317Apr 11, 2018
NRXN19Apr 11, 2018
NSD12Apr 11, 2018
NSD31Apr 11, 2018
NSG12Apr 11, 2018
NSUN64Apr 11, 2018
NT5DC17Apr 11, 2018
NT5DC21Apr 11, 2018
NTM5Apr 11, 2018
NTRK21Apr 11, 2018
NTSR12Apr 11, 2018
NUAK11Apr 11, 2018
NUDCD31Apr 11, 2018
NUDT31Apr 11, 2018
NUP353Apr 11, 2018
NXN4Apr 11, 2018
NYAP21Apr 11, 2018
OBSCN2Apr 11, 2018
OC901Apr 11, 2018
ODC11Apr 11, 2018
ODF12Apr 11, 2018
OGFRL11Apr 11, 2018
OLFM32Apr 11, 2018
OPCML4Apr 11, 2018
OR2L134Apr 11, 2018
OR4C32Apr 11, 2018
OR52E62Apr 11, 2018
OR9G11Apr 11, 2018
OR9Q12Apr 11, 2018
ORC51Apr 11, 2018
OTOF1Apr 11, 2018
OTOGL2Apr 11, 2018
OTUD7A1Apr 11, 2018
OXR11Apr 11, 2018
PABPC13Apr 11, 2018
PACRG3Apr 11, 2018
PACS13Apr 11, 2018
PADI31Apr 11, 2018
PADI43Apr 11, 2018
PAFAH1B11Apr 11, 2018
PAG11Apr 11, 2018
PAIP11Apr 11, 2018
PALLD1Apr 11, 2018
PALM2AKAP22Apr 11, 2018
PARD31Apr 11, 2018
PARD3B2Apr 11, 2018
PARP41Apr 11, 2018
PATJ2Apr 11, 2018
PCBD22Apr 11, 2018
PCCB4Apr 11, 2018
PCDH11X3Apr 11, 2018
PCDH157Apr 11, 2018
PCDH171Apr 11, 2018
PCDH81Apr 11, 2018
PCDH98Apr 11, 2018
PCDHA116Apr 11, 2018
PCDHA102Apr 11, 2018
PCDHA111Apr 11, 2018
PCDHA121Apr 11, 2018
PCDHA131Apr 11, 2018
PCDHA215Apr 11, 2018
PCDHA312Apr 11, 2018
PCDHA410Apr 11, 2018
PCDHA510Apr 11, 2018
PCDHA610Apr 11, 2018
PCDHA79Apr 11, 2018
PCDHA86Apr 11, 2018
PCDHA94Apr 11, 2018
PCDHA@16Apr 11, 2018
PCDHB@5Apr 11, 2018
PCGF36Apr 11, 2018
PCNT10Apr 11, 2018
PCNX31Apr 11, 2018
PCSK62Apr 11, 2018
PCSK93Apr 11, 2018
PDCD1LG21Apr 11, 2018
PDE11A13Apr 11, 2018
PDE1A2Apr 11, 2018
PDE1C2Apr 11, 2018
PDE3A2Apr 11, 2018
PDE3B1Apr 11, 2018
PDE4D10Apr 11, 2018
PDE6B3Apr 11, 2018
PDE6C1Apr 11, 2018
PDE9A1Apr 11, 2018
PDGFD1Apr 11, 2018
PDHA13Apr 11, 2018
PDHX2Apr 11, 2018
PDLIM37Apr 11, 2018
PDS5A1Apr 11, 2018
PDSS18Apr 11, 2018
PDXK4Apr 11, 2018
PEAK18Apr 11, 2018
PFKL3Apr 11, 2018
PFKP1Apr 11, 2018
PGM51Apr 11, 2018
PHACTR11Apr 11, 2018
PHF141Apr 11, 2018
PHKB1Apr 11, 2018
PHTF12Apr 11, 2018
PHYH1Apr 11, 2018
PHYHD14Apr 11, 2018
PIEZO14Apr 11, 2018
PIGU2Apr 11, 2018
PIK3C2G5Apr 11, 2018
PIN41Apr 11, 2018
PITPNC14Apr 11, 2018
PITX21Apr 11, 2018
PKD11Apr 11, 2018
PKD1L25Apr 11, 2018
PKD1L31Apr 11, 2018
PKD25Apr 11, 2018
PKHD16Apr 11, 2018
PKN31Apr 11, 2018
PKNOX23Apr 11, 2018
PKP32Apr 11, 2018
PLA2G2C1Apr 11, 2018
PLCB14Apr 11, 2018
PLCG22Apr 11, 2018
PLD51Apr 11, 2018
PLEC5Apr 11, 2018
PLEKHG4B2Apr 11, 2018
PLIN48Apr 11, 2018
PLPP13Apr 11, 2018
PLPP41Apr 11, 2018
PLXDC22Apr 11, 2018
PLXNA21Apr 11, 2018
PLXNB33Apr 11, 2018
PMEPA12Apr 11, 2018
PPARG1Apr 11, 2018
PPM1L2Apr 11, 2018
PPP1R1C2Apr 11, 2018
PPP2R2C1Apr 11, 2018
PPP3CA2Apr 11, 2018
PPP6C3Apr 11, 2018
PPP6R22Apr 11, 2018
PRDM161Apr 11, 2018
PRDM82Apr 11, 2018
PRICKLE12Apr 11, 2018
PRKACB1Apr 11, 2018
PRKAR1B2Apr 11, 2018
PRKCA4Apr 11, 2018
PRKCB1Apr 11, 2018
PRKCE1Apr 11, 2018
PRKCH1Apr 11, 2018
PRKCZ1Apr 11, 2018
PRKG19Apr 11, 2018
PRKG21Apr 11, 2018
PRKN44Apr 11, 2018
PRMT81Apr 11, 2018
PRORP9Apr 11, 2018
PROS11Apr 11, 2018
PRR163Apr 11, 2018
PRR291Apr 11, 2018
PRR5-ARHGAP88Apr 11, 2018
PSD32Apr 11, 2018
PSMA81Apr 11, 2018
PTCHD41Apr 11, 2018
PTEN21Apr 11, 2018
PTER1Apr 11, 2018
PTGER32Apr 11, 2018
PTGIS3Apr 11, 2018
PTK21Apr 11, 2018
PTN1Apr 11, 2018
PTPN131Apr 11, 2018
PTPN141Apr 11, 2018
PTPRD21Apr 11, 2018
PTPRE1Apr 11, 2018
PTPRG3Apr 11, 2018
PTPRK3Apr 11, 2018
PTPRM1Apr 11, 2018
PTPRN236Apr 11, 2018
PTPRT14Apr 11, 2018
PTX43Apr 11, 2018
PUM31Apr 11, 2018
PXDN1Apr 11, 2018
QKI2Apr 11, 2018
QRFPR1Apr 11, 2018
RAB11FIP34Apr 11, 2018
RAB11FIP42Apr 11, 2018
RAB171Apr 11, 2018
RAB283Apr 11, 2018
RAB312Apr 11, 2018
RAB322Apr 11, 2018
RAB3C2Apr 11, 2018
RAB40B1Apr 11, 2018
RAB4A1Apr 11, 2018
RABGAP1L14Apr 11, 2018
RAD51AP22Apr 11, 2018
RAD51B1Apr 11, 2018
RADIL7Apr 11, 2018
RALYL2Apr 11, 2018
RANBP171Apr 11, 2018
RAP2A1Apr 11, 2018
RASA32Apr 11, 2018
RASGEF1A1Apr 11, 2018
RASGRP35Apr 11, 2018
RBFOX115Apr 11, 2018
RBFOX32Apr 11, 2018
RBM193Apr 11, 2018
RBM2514Apr 11, 2018
RBMS33Apr 11, 2018
RCBTB11Apr 11, 2018
RCC1L4Apr 11, 2018
REEP31Apr 11, 2018
RELN1Apr 11, 2018
RERE4Apr 11, 2018
RERG1Apr 11, 2018
REV11Apr 11, 2018
RFX84Apr 11, 2018
RGS61Apr 11, 2018
RHCE2Apr 11, 2018
RHOJ2Apr 11, 2018
RIC12Apr 11, 2018
RILP3Apr 11, 2018
RIMKLB1Apr 11, 2018
RIMS16Apr 11, 2018
RIMS23Apr 11, 2018
RIN21Apr 11, 2018
RIPK11Apr 11, 2018
RNF141Apr 11, 2018
RNF144B7Apr 11, 2018
RNF2124Apr 11, 2018
RNF2201Apr 11, 2018
RNF381Apr 11, 2018
RNPEP1Apr 11, 2018
ROBO11Apr 11, 2018
ROBO26Apr 11, 2018
ROCK11Apr 11, 2018
RORA2Apr 11, 2018
RP1L12Apr 11, 2018
RPA31Apr 11, 2018
RPH3AL6Apr 11, 2018
RPS6KA210Apr 11, 2018
RPS6KC12Apr 11, 2018
RPTOR8Apr 11, 2018
RRAS22Apr 11, 2018
RS11Apr 11, 2018
RSPH1415Apr 11, 2018
RSRC13Apr 11, 2018
RTL91Apr 11, 2018
RTN4RL11Apr 11, 2018
RUNDC3B4Apr 11, 2018
RUNX13Apr 11, 2018
RUNX22Apr 11, 2018
RXRA6Apr 11, 2018
RYR21Apr 11, 2018
RYR31Apr 11, 2018
SAMD115Apr 11, 2018
SAMHD11Apr 11, 2018
SARDH8Apr 11, 2018
SATB21Apr 11, 2018
SBF23Apr 11, 2018
SBK21Apr 11, 2018
SBNO210Apr 11, 2018
SCAF82Apr 11, 2018
SCAP2Apr 11, 2018
SCARF11Apr 11, 2018
SCD51Apr 11, 2018
SCHIP11Apr 11, 2018
SCML24Apr 11, 2018
SCML43Apr 11, 2018
SCN1A15Apr 11, 2018
SCN3A3Apr 11, 2018
SCN9A4Apr 11, 2018
SCNN1D9Apr 11, 2018
SCUBE12Apr 11, 2018
SDC16Apr 11, 2018
SDC21Apr 11, 2018
SDCCAG82Apr 11, 2018
SDK114Apr 11, 2018
SELP1Apr 11, 2018
SEMA3A5Apr 11, 2018
SEMA3E4Apr 11, 2018
SEMA5A1Apr 11, 2018
SEMA6D2Apr 11, 2018
SEPTIN71Apr 11, 2018
SESTD11Apr 11, 2018
SET1Apr 11, 2018
SETD72Apr 11, 2018
SETD91Apr 11, 2018
SFMBT12Apr 11, 2018
SGCG1Apr 11, 2018
SGCZ11Apr 11, 2018
SGK13Apr 11, 2018
SGSM21Apr 11, 2018
SGSM34Apr 11, 2018
SH2B33Apr 11, 2018
SH3GL21Apr 11, 2018
SH3TC13Apr 11, 2018
SHANK22Apr 11, 2018
SHC22Apr 11, 2018
SHISA63Apr 11, 2018
SHISA91Apr 11, 2018
SHLD11Apr 11, 2018
SHROOM31Apr 11, 2018
SI1Apr 11, 2018
SIAH21Apr 11, 2018
SIK31Apr 11, 2018
SIN3B2Apr 11, 2018
SIRPA1Apr 11, 2018
SIRPB11Apr 11, 2018
SKA38Apr 11, 2018
SKAP13Apr 11, 2018
SLC14A23Apr 11, 2018
SLC15A515Apr 11, 2018
SLC16A71Apr 11, 2018
SLC16A81Apr 11, 2018
SLC17A51Apr 11, 2018
SLC1A12Apr 11, 2018
SLC1A72Apr 11, 2018
SLC22A241Apr 11, 2018
SLC22A31Apr 11, 2018
SLC24A23Apr 11, 2018
SLC24A41Apr 11, 2018
SLC25A185Apr 11, 2018
SLC25A211Apr 11, 2018
SLC25A247Apr 11, 2018
SLC26A11Apr 11, 2018
SLC2A133Apr 11, 2018
SLC2A96Apr 11, 2018
SLC30A81Apr 11, 2018
SLC35F32Apr 11, 2018
SLC35F42Apr 11, 2018
SLC36A41Apr 11, 2018
SLC37A13Apr 11, 2018
SLC38A12Apr 11, 2018
SLC38A51Apr 11, 2018
SLC39A117Apr 11, 2018
SLC3A12Apr 11, 2018
SLC51A1Apr 11, 2018
SLC5A101Apr 11, 2018
SLC6A141Apr 11, 2018
SLC6A33Apr 11, 2018
SLC8A11Apr 11, 2018
SLC9A81Apr 11, 2018
SLC9A91Apr 11, 2018
SLCO1A21Apr 11, 2018
SLCO1B12Apr 11, 2018
SLCO1B33Apr 11, 2018
SLCO3A17Apr 11, 2018
SLCO5A12Apr 11, 2018
SLIT11Apr 11, 2018
SLIT21Apr 11, 2018
SMAD14Apr 11, 2018
SMAD21Apr 11, 2018
SMARCA22Apr 11, 2018
SMCHD11Apr 11, 2018
SMOC24Apr 11, 2018
SMPD31Apr 11, 2018
SMYD310Apr 11, 2018
SNRNP274Apr 11, 2018
SNRPN9Apr 11, 2018
SNTG14Apr 11, 2018
SNTG22Apr 11, 2018
SNX292Apr 11, 2018
SOCS25Apr 11, 2018
SORCS217Apr 11, 2018
SOS12Apr 11, 2018
SOX512Apr 11, 2018
SOX615Apr 11, 2018
SPAG166Apr 11, 2018
SPATA51Apr 11, 2018
SPATA6L6Apr 11, 2018
SPEF22Apr 11, 2018
SPEN1Apr 11, 2018
SPIN12Apr 11, 2018
SPINK141Apr 11, 2018
SPIRE11Apr 11, 2018
SPIRE23Apr 11, 2018
SPOCK11Apr 11, 2018
SPPL31Apr 11, 2018
SPRED11Apr 11, 2018
SPSB41Apr 11, 2018
SPTBN23Apr 11, 2018
SRA15Apr 11, 2018
SRBD11Apr 11, 2018
SRGAP11Apr 11, 2018
SRGAP2B1Apr 11, 2018
SRGAP31Apr 11, 2018
SRSF81Apr 11, 2018
SS18L11Apr 11, 2018
SSPO12Apr 11, 2018
ST6GALNAC31Apr 11, 2018
STARD131Apr 11, 2018
STAT42Apr 11, 2018
STIM24Apr 11, 2018
STK17A2Apr 11, 2018
STK32B3Apr 11, 2018
STON1-GTF2A1L1Apr 11, 2018
STON21Apr 11, 2018
STOX12Apr 11, 2018
STPG21Apr 11, 2018
STRC1Apr 11, 2018
STXBP41Apr 11, 2018
STXBP5L1Apr 11, 2018
STXBP62Apr 11, 2018
STYXL11Apr 11, 2018
SUCLG23Apr 11, 2018
SUGCT6Apr 11, 2018
SULT2B11Apr 11, 2018
SUPT3H8Apr 11, 2018
SVEP12Apr 11, 2018
SWAP701Apr 11, 2018
SYCP24Apr 11, 2018
SYK2Apr 11, 2018
SYN31Apr 11, 2018
SYNM3Apr 11, 2018
SYNPO21Apr 11, 2018
SYNPR1Apr 11, 2018
SYT161Apr 11, 2018
SYT62Apr 11, 2018
SYT81Apr 11, 2018
SYT92Apr 11, 2018
SYTL24Apr 11, 2018
TACR12Apr 11, 2018
TAF151Apr 11, 2018
TAF31Apr 11, 2018
TAFA22Apr 11, 2018
TAFA54Apr 11, 2018
TANC12Apr 11, 2018
TANC24Apr 11, 2018
TANGO61Apr 11, 2018
TAOK18Apr 11, 2018
TBC1D122Apr 11, 2018
TBC1D161Apr 11, 2018
TBC1D22Apr 11, 2018
TBC1D22A2Apr 11, 2018
TBC1D324Apr 11, 2018
TBC1D55Apr 11, 2018
TBCE1Apr 11, 2018
TBCK7Apr 11, 2018
TBL1X1Apr 11, 2018
TBX11Apr 11, 2018
TBX201Apr 11, 2018
TCAP1Apr 11, 2018
TCERG1L4Apr 11, 2018
TCF253Apr 11, 2018
TCF33Apr 11, 2018
TCF41Apr 11, 2018
TDRD123Apr 11, 2018
TDRD52Apr 11, 2018
TDRD63Apr 11, 2018
TELO21Apr 11, 2018
TENM21Apr 11, 2018
TENM32Apr 11, 2018
TENM42Apr 11, 2018
TEX141Apr 11, 2018
TFDP21Apr 11, 2018
TFEB2Apr 11, 2018
TGIF11Apr 11, 2018
THADA1Apr 11, 2018
THBS21Apr 11, 2018
THEMIS1Apr 11, 2018
THSD43Apr 11, 2018
THSD7A2Apr 11, 2018
TJP21Apr 11, 2018
TLE11Apr 11, 2018
TLL11Apr 11, 2018
TLNRD11Apr 11, 2018
TMC51Apr 11, 2018
TMCO31Apr 11, 2018
TMEM106B1Apr 11, 2018
TMEM1174Apr 11, 2018
TMEM120B5Apr 11, 2018
TMEM1235Apr 11, 2018
TMEM132C3Apr 11, 2018
TMEM132D8Apr 11, 2018
TMEM1352Apr 11, 2018
TMEM1652Apr 11, 2018
TMEM1926Apr 11, 2018
TMEM2323Apr 11, 2018
TMEM255B3Apr 11, 2018
TMEM39B3Apr 11, 2018
TMEM41B1Apr 11, 2018
TMEM434Apr 11, 2018
TMLHE7Apr 11, 2018
TMPRSS24Apr 11, 2018
TMPRSS63Apr 11, 2018
TMTC12Apr 11, 2018
TMTC23Apr 11, 2018
TNC1Apr 11, 2018
TNFSF13B5Apr 11, 2018
TNKS7Apr 11, 2018
TNNI3K1Apr 11, 2018
TNR2Apr 11, 2018
TNRC181Apr 11, 2018
TNRC6B3Apr 11, 2018
TNS24Apr 11, 2018
TONSL5Apr 11, 2018
TP631Apr 11, 2018
TPCN28Apr 11, 2018
TPGS11Apr 11, 2018
TPH25Apr 11, 2018
TPMT1Apr 11, 2018
TPO8Apr 11, 2018
TPPP1Apr 11, 2018
TPRN9Apr 11, 2018
TPSG13Apr 11, 2018
TRA1Apr 11, 2018
TRAF32Apr 11, 2018
TRAF3IP21Apr 11, 2018
TRAK23Apr 11, 2018
TRAPPC6B3Apr 11, 2018
TRB9Apr 11, 2018
TRDN6Apr 11, 2018
TRIM52Apr 11, 2018
TRIM673Apr 11, 2018
TRIOBP2Apr 11, 2018
TRMT9B1Apr 11, 2018
TRPC31Apr 11, 2018
TRPC4AP1Apr 11, 2018
TRPC61Apr 11, 2018
TRPM21Apr 11, 2018
TRPM55Apr 11, 2018
TSC22D11Apr 11, 2018
TSHR1Apr 11, 2018
TSNARE18Apr 11, 2018
TSPAN112Apr 11, 2018
TSPAN181Apr 11, 2018
TTC191Apr 11, 2018
TTC281Apr 11, 2018
TTC39C1Apr 11, 2018
TTLL71Apr 11, 2018
TTLL81Apr 11, 2018
TTN1Apr 11, 2018
TTYH22Apr 11, 2018
TUBGCP62Apr 11, 2018
TUSC33Apr 11, 2018
TXLNB2Apr 11, 2018
TXNRD13Apr 11, 2018
TYR1Apr 11, 2018
TYW12Apr 11, 2018
TYW1B6Apr 11, 2018
UBE2A2Apr 11, 2018
UBE2E24Apr 11, 2018
UBE2K3Apr 11, 2018
UBE2R23Apr 11, 2018
UBE3A2Apr 11, 2018
UBTF3Apr 11, 2018
UBXN83Apr 11, 2018
UGP21Apr 11, 2018
UGT1A102Apr 11, 2018
UGT1A32Apr 11, 2018
UGT1A42Apr 11, 2018
UGT1A52Apr 11, 2018
UGT1A62Apr 11, 2018
UGT1A72Apr 11, 2018
UGT1A83Apr 11, 2018
UGT1A92Apr 11, 2018
UGT2A16Apr 11, 2018
UGT2A25Apr 11, 2018
UGT2B41Apr 11, 2018
ULK12Apr 11, 2018
ULK47Apr 11, 2018
UNC13C1Apr 11, 2018
UNC5A1Apr 11, 2018
UNC5C3Apr 11, 2018
UNKL1Apr 11, 2018
UQCC11Apr 11, 2018
UROC12Apr 11, 2018
USH2A6Apr 11, 2018
USP141Apr 11, 2018
USP324Apr 11, 2018
USP421Apr 11, 2018
USP477Apr 11, 2018
USP66Apr 11, 2018
USPL11Apr 11, 2018
UTS2B1Apr 11, 2018
UVRAG1Apr 11, 2018
VANGL15Apr 11, 2018
VAPA1Apr 11, 2018
VAV23Apr 11, 2018
VAV34Apr 11, 2018
VGLL410Apr 11, 2018
VIPR21Apr 11, 2018
VIRMA1Apr 11, 2018
VPS13A4Apr 11, 2018
VPS13B6Apr 11, 2018
VPS532Apr 11, 2018
VRK31Apr 11, 2018
VSTM13Apr 11, 2018
VTI1A1Apr 11, 2018
WDR1714Apr 11, 2018
WDR275Apr 11, 2018
WDR361Apr 11, 2018
WDR472Apr 11, 2018
WDR492Apr 11, 2018
WDR723Apr 11, 2018
WDR762Apr 11, 2018
WDSUB13Apr 11, 2018
WFDC81Apr 11, 2018
WIPF13Apr 11, 2018
WNK13Apr 11, 2018
WNT32Apr 11, 2018
WRN1Apr 11, 2018
WWC21Apr 11, 2018
WWOX22Apr 11, 2018
WWTR11Apr 11, 2018
XIRP21Apr 11, 2018
XKR41Apr 11, 2018
XPR12Apr 11, 2018
XRN22Apr 11, 2018
XXYLT13Apr 11, 2018
YPEL53Apr 11, 2018
ZBTB145Apr 11, 2018
ZBTB204Apr 11, 2018
ZBTB381Apr 11, 2018
ZC2HC1B3Apr 11, 2018
ZC3H183Apr 11, 2018
ZC3H67Apr 11, 2018
ZC3H7A1Apr 11, 2018
ZDHHC212Apr 11, 2018
ZDHHC71Apr 11, 2018
ZFAND31Apr 11, 2018
ZFP141Apr 11, 2018
ZFP26Apr 11, 2018
ZFP641Apr 11, 2018
ZFPM110Apr 11, 2018
ZFPM23Apr 11, 2018
ZFR23Apr 11, 2018
ZFY1Apr 11, 2018
ZFYVE285Apr 11, 2018
ZHX34Apr 11, 2018
ZIM2-AS11Apr 11, 2018
ZMAT43Apr 11, 2018
ZMIZ11Apr 11, 2018
ZMYM26Apr 11, 2018
ZNF144Apr 11, 2018
ZNF1434Apr 11, 2018
ZNF163Apr 11, 2018
ZNF2832Apr 11, 2018
ZNF385B1Apr 11, 2018
ZNF385D13Apr 11, 2018
ZNF4072Apr 11, 2018
ZNF4153Apr 11, 2018
ZNF4231Apr 11, 2018
ZNF4386Apr 11, 2018
ZNF4401Apr 11, 2018
ZNF4862Apr 11, 2018
ZNF512B1Apr 11, 2018
ZNF5162Apr 11, 2018
ZNF5701Apr 11, 2018
ZNF5951Apr 11, 2018
ZNF6641Apr 11, 2018
ZNF6701Apr 11, 2018
ZNF6752Apr 11, 2018
ZNF6951Apr 11, 2018
ZNF7001Apr 11, 2018
ZNF7261Apr 11, 2018
ZNF804A2Apr 11, 2018
ZNF834Apr 11, 2018
ZPBP4Apr 11, 2018
ZRANB33Apr 11, 2018
ZZEF12Apr 11, 2018

Condition

NameSubmissionsLast Updated
BMPR1A Skeletal Dysplasia Syndrome1Jun 29, 2018
N-terminal acetyltransferase deficiency1Apr 27, 2020
not provided17786Apr 11, 2018

Testing in GTR

Disease nameNumber of tests
2,4-Dienoyl-CoA reductase deficiency1 test
3-Methylglutaconic aciduria type 28 tests
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia2 tests
3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia1 test
46,XY sex reversal 91 test
46,xx sex reversal 51 test
4p partial monosomy syndrome1 test
5p partial monosomy syndrome1 test
ADULT syndrome1 test
ALG8-CDG2 tests
Acquired hemoglobin H disease2 tests
Acrocallosal syndrome2 tests
Acrocephalosyndactyly type I1 test
Acromicric dysplasia1 test
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins1 test
Acute lymphoid leukemia2 tests
Acute megakaryoblastic leukemia1 test
Acute myeloid leukemia7 tests
Acute promyelocytic leukemia1 test
Acyl-CoA dehydrogenase family, member 9, deficiency of4 tests
Adams-Oliver syndrome 53 tests
Adenosine triphosphate, elevated, of erythrocytes2 tests
Adenylate kinase deficiency, hemolytic anemia due to4 tests
Adult hypophosphatasia1 test
Adult polyglucosan body disease1 test
Afibrinogenemia, congenital1 test
Agammaglobulinemia 7, autosomal recessive1 test
Age-related macular degeneration 21 test
Age-related macular degeneration 31 test
Age-related macular degeneration 41 test
Agnathia-otocephaly complex1 test
Alagille syndrome 15 tests
Alagille syndrome 24 tests
Alpha thalassemia-X-linked intellectual disability syndrome2 tests
Alpha-1-antitrypsin deficiency3 tests
Alpha-B crystallinopathy3 tests
Alpha-methylacyl-CoA racemase deficiency1 test
Alstrom syndrome3 tests
Alternating hemiplegia of childhood 21 test
Alveolar capillary dysplasia with pulmonary venous misalignment3 tests
Ambiguous genitalia1 test
Amelia, autosomal recessive1 test
Amyloidogenic transthyretin amyloidosis3 tests
Anauxetic dysplasia 11 test
Andersen Tawil syndrome4 tests
Anemia without thromobocytopenia, X-linked1 test
Anemia, nonspherocytic hemolytic, due to G6PD deficiency4 tests
Anemia, sideroblastic, 12 tests
Anemia, sideroblastic, 2, pyridoxine-refractory2 tests
Aneurysm of thoracic aorta2 tests
Angelman syndrome2 tests
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps2 tests
Anophthalmia/microphthalmia-esophageal atresia syndrome1 test
Anterior segment dysgenesis 31 test
Anterior segment dysgenesis 41 test
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis1 test
Aortic aneurysm, familial thoracic 101 test
Aortic aneurysm, familial thoracic 11, susceptibility to1 test
Aortic aneurysm, familial thoracic 42 tests
Aortic aneurysm, familial thoracic 61 test
Aortic aneurysm, familial thoracic 72 tests
Aortic aneurysm, familial thoracic 81 test
Aortic aneurysm, familial thoracic 91 test
Aortic valve disease 13 tests
Aortic valve disease 21 test
Apolipoprotein C2 deficiency1 test
Arginine:glycine amidinotransferase deficiency1 test
Arrhythmogenic cardiomyopathy2 tests
Arrhythmogenic right ventricular cardiomyopathy1 test
Arrhythmogenic right ventricular cardiomyopathy, type 103 tests
Arrhythmogenic right ventricular cardiomyopathy, type 115 tests
Arrhythmogenic right ventricular cardiomyopathy, type 124 tests
Arrhythmogenic right ventricular cardiomyopathy, type 53 tests
Arrhythmogenic right ventricular dysplasia 81 test
Arrhythmogenic right ventricular dysplasia 95 tests
Arrhythmogenic right ventricular dysplasia, familial 11 test
Arrhythmogenic right ventricular dysplasia, familial, 132 tests
Arrhythmogenic right ventricular dysplasia, familial, 23 tests
Arterial tortuosity syndrome2 tests
Arthrogryposis, renal dysfunction, and cholestasis 13 tests
Arthrogryposis, renal dysfunction, and cholestasis 23 tests
Ataxia-pancytopenia syndrome1 test
Ataxia-telangiectasia syndrome5 tests
Atelosteogenesis type 11 test
Atelosteogenesis type III1 test
Atrial fibrillation1 test
Atrial fibrillation, familial, 108 tests
Atrial fibrillation, familial, 111 test
Atrial fibrillation, familial, 121 test
Atrial fibrillation, familial, 151 test
Atrial fibrillation, familial, 31 test
Atrial fibrillation, familial, 61 test
Atrial fibrillation, familial, 72 tests
Atrial fibrillation, familial, 91 test
Atrial septal defect 22 tests
Atrial septal defect 42 tests
Atrial septal defect 52 tests
Atrial septal defect 7 with or without atrioventricular conduction defects3 tests
Atrial septal defect 81 test
Atrial septal defect 93 tests
Atrial standstill 11 test
Atrial standstill 21 test
Atrioventricular block1 test
Atrioventricular septal defect 22 tests
Atrioventricular septal defect 32 tests
Atrioventricular septal defect 42 tests
Atrioventricular septal defect 53 tests
Atypical hemolytic uremic syndrome2 tests
Atypical hemolytic-uremic syndrome 14 tests
Atypical hemolytic-uremic syndrome 22 tests
Atypical hemolytic-uremic syndrome 32 tests
Atypical hemolytic-uremic syndrome 42 tests
Atypical hemolytic-uremic syndrome 52 tests
Atypical hemolytic-uremic syndrome 62 tests
Auditory neuropathy, autosomal recessive, 11 test
Autism spectrum disorder1 test
Autoimmune disease, multisystem, infantile-onset, 11 test
Autoimmune lymphoproliferative syndrome6 tests
Autoimmune lymphoproliferative syndrome 31 test
Autoimmune lymphoproliferative syndrome type 2B3 tests
Autoimmune lymphoproliferative syndrome type V3 tests
Autoimmune lymphoproliferative syndrome, type 1a1 test
Autoimmune lymphoproliferative syndrome, type 1b3 tests
Autoimmune lymphoproliferative syndrome, type 2A3 tests
Autoinflammation with infantile enterocolitis2 tests
Autosomal dominant distal renal tubular acidosis1 test
Autosomal dominant macrothrombocytopenia TUBB1-related1 test
Autosomal dominant nonsyndromic deafness 172 tests
Autosomal dominant nonsyndromic deafness 224 tests
Autosomal dominant optic atrophy classic form1 test
Autosomal dominant osteopetrosis 21 test
Autosomal recessive cutis laxa type 1B2 tests
Autosomal recessive cutis laxa type IA2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2F1 test
Autosomal recessive limb-girdle muscular dystrophy type 2G1 test
Autosomal recessive osteopetrosis 14 tests
Autosomal recessive osteopetrosis 41 test
Autosomal recessive polycystic kidney disease2 tests
Axenfeld-Rieger syndrome type 11 test
Axenfeld-Rieger syndrome type 31 test
Azathioprine response1 test
Bannayan-Riley-Ruvalcaba syndrome3 tests
Baraitser-Winter Syndrome 21 test
Baraitser-Winter syndrome 12 tests
Bardet-Biedl syndrome 12 tests
Bardet-Biedl syndrome 102 tests
Bardet-Biedl syndrome 132 tests
Bardet-Biedl syndrome 151 test
Bardet-Biedl syndrome 22 tests
Bare lymphocyte syndrome 29 tests
Bare lymphocyte syndrome type 13 tests
Bare lymphocyte syndrome type 2, complementation group A2 tests
Bartter syndrome type 31 test
Bartter syndrome, type 4b1 test
Basal laminar drusen2 tests
Beare-Stevenson cutis gyrata syndrome1 test
Benign hereditary chorea1 test
Benign recurrent intrahepatic cholestasis type 24 tests
Benign scapuloperoneal muscular dystrophy with cardiomyopathy4 tests
Bent bone dysplasia syndrome1 test
Bernard Soulier syndrome3 tests
Bernard-Soulier syndrome, type A2, autosomal dominant1 test
Beta thalassemia intermedia1 test
Beta thalassemia major1 test
Beta thalassemia minor1 test
Bifunctional peroxisomal enzyme deficiency2 tests
Bilateral right-sidedness sequence1 test
Bile acid CoA ligase deficiency and defective amidation1 test
Bile acid malabsorption, primary3 tests
Bile acid synthesis defect, congenital, 34 tests
Bile acid synthesis defect, congenital, 53 tests
Bilirubin, serum level of, quantitative trait locus 11 test
Blau syndrome1 test
Bleeding disorder, platelet-type, 211 test
Blepharophimosis - intellectual disability syndrome, SBBYS type3 tests
Bloom syndrome4 tests
Bone marrow failure syndrome 13 tests
Bone marrow failure syndrome 22 tests
Bone marrow failure syndrome 34 tests
Bone marrow failure syndrome 43 tests
Bone marrow failure syndrome 52 tests
Boomerang dysplasia1 test
Brain small vessel disease 1 with or without ocular anomalies2 tests
Branchiootic syndrome 11 test
Branchiootic syndrome 34 tests
Branchiootorenal Syndrome 14 tests
Branchiootorenal syndrome 24 tests
Breast-ovarian cancer, familial 11 test
Breast-ovarian cancer, familial 21 test
Brittle cornea syndrome 12 tests
Bronchiectasis with or without elevated sweat chloride 11 test
Brown-Vialetto-Van Laere syndrome 13 tests
Brown-Vialetto-Van Laere syndrome 23 tests
Brugada syndrome2 tests
Brugada syndrome 18 tests
Brugada syndrome 31 test
Brugada syndrome 41 test
Brugada syndrome 81 test
C3 deficiency1 test
CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy2 tests
CFHR5 deficiency3 tests
CHARGE association4 tests
COACH syndrome 21 test
Café-au-lait macules with pulmonary stenosis1 test
Candidiasis, familial, 21 test
Candidiasis, familial, 61 test
Capillary malformation-arteriovenous malformation 13 tests
Cardiac arrhythmia2 tests
Cardiac arrhythmia, ankyrin B-related3 tests
Cardiac defects1 test
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency2 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 22 tests
Cardiofaciocutaneous syndrome 14 tests
Cardiofaciocutaneous syndrome 21 test
Cardiofaciocutaneous syndrome 33 tests
Cardiofaciocutaneous syndrome 44 tests
Cardiomyopathy1 test
Cardiomyopathy, dilated, 1NN4 tests
Cardiomyopathy, dilated, 2b3 tests
Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis3 tests
Cardiomyopathy, familial hypertrophic 272 tests
Cardiomyopathy, familial hypertrophic, 265 tests
Carnitine acylcarnitine translocase deficiency4 tests
Carnitine palmitoyltransferase 1A deficiency3 tests
Carnitine palmitoyltransferase II deficiency2 tests
Carnitine palmitoyltransferase II deficiency, infantile3 tests
Carnitine palmitoyltransferase II deficiency, lethal neonatal5 tests
Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced4 tests
Carotid intimal medial thickness 12 tests
Carpenter syndrome 22 tests
Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders1 test
Cataract, autosomal recessive congenital 51 test
Catecholaminergic polymorphic ventricular tachycardia2 tests
Catecholaminergic polymorphic ventricular tachycardia type 17 tests
Catel Manzke syndrome1 test
Caveolinopathy1 test
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 11 test
Cerebroretinal microangiopathy with calcifications and cysts 14 tests
Cerebroretinal microangiopathy with calcifications and cysts 23 tests
Charcot-Marie-Tooth disease1 test
Charcot-Marie-Tooth disease type 2B11 test
Charcot-Marie-Tooth disease, type 4k1 test
Childhood hypophosphatasia1 test
Cholestanol storage disease3 tests
Cholestasis of pregnancy1 test
Cholestasis, benign recurrent intrahepatic 13 tests
Cholestasis, intrahepatic, of pregnancy 32 tests
Cholestasis, progressive familial intrahepatic 12 tests
Cholestasis, progressive familial intrahepatic, 52 tests
Cholesteryl ester storage disease1 test
Chondrosarcoma1 test
Choreoacanthocytosis1 test
Choreoathetosis, hypothyroidism, and neonatal respiratory distress1 test
Chromosome 13q trisomy1 test
Chronic familial neutropenia1 test
Chronic granulomatous disease, X-linked1 test
Chronic infantile neurological, cutaneous and articular syndrome1 test
Chronic lymphocytic leukemia4 tests
Chronic myelogenous leukemia, BCR-ABL1 positive2 tests
Chronic pancreatitis1 test
Chédiak-Higashi syndrome5 tests
Ciliary dyskinesia, primary, 102 tests
Ciliary dyskinesia, primary, 112 tests
Ciliary dyskinesia, primary, 122 tests
Ciliary dyskinesia, primary, 132 tests
Ciliary dyskinesia, primary, 142 tests
Ciliary dyskinesia, primary, 152 tests
Ciliary dyskinesia, primary, 162 tests
Ciliary dyskinesia, primary, 172 tests
Ciliary dyskinesia, primary, 181 test
Ciliary dyskinesia, primary, 192 tests
Ciliary dyskinesia, primary, 22 tests
Ciliary dyskinesia, primary, 201 test
Ciliary dyskinesia, primary, 212 tests
Ciliary dyskinesia, primary, 221 test
Ciliary dyskinesia, primary, 262 tests
Ciliary dyskinesia, primary, 272 tests
Ciliary dyskinesia, primary, 282 tests
Ciliary dyskinesia, primary, 292 tests
Ciliary dyskinesia, primary, 32 tests
Ciliary dyskinesia, primary, 302 tests
Ciliary dyskinesia, primary, 322 tests
Ciliary dyskinesia, primary, 332 tests
Ciliary dyskinesia, primary, 342 tests
Ciliary dyskinesia, primary, 352 tests
Ciliary dyskinesia, primary, 36, X-linked2 tests
Ciliary dyskinesia, primary, 372 tests
Ciliary dyskinesia, primary, 382 tests
Ciliary dyskinesia, primary, 392 tests
Ciliary dyskinesia, primary, 402 tests
Ciliary dyskinesia, primary, 412 tests
Ciliary dyskinesia, primary, 52 tests
Ciliary dyskinesia, primary, 62 tests
Ciliary dyskinesia, primary, 72 tests
Ciliary dyskinesia, primary, 92 tests
Ciliopathy1 test
Citrullinemia type II3 tests
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1 test
Classic homocystinuria2 tests
Cleft palate, cardiac defects, and mental retardation2 tests
Cleidocranial dysostosis1 test
Cobalamin C disease1 test
Coffin-Siris syndrome1 test
Cohen syndrome4 tests
Combined cellular and humoral immune defects with granulomas4 tests
Combined immunodeficiency due to ORAI1 deficiency3 tests
Combined immunodeficiency due to STIM1 deficiency5 tests
Combined immunodeficiency due to ZAP70 deficiency1 test
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 11 test
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 21 test
Combined oxidative phosphorylation deficiency 102 tests
Combined oxidative phosphorylation deficiency 111 test
Combined oxidative phosphorylation deficiency 172 tests
Combined oxidative phosphorylation deficiency 82 tests
Common variable immunodeficiency 11 test
Common variable immunodeficiency 101 test
Common variable immunodeficiency 21 test
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 autoimmunity3 tests
Complement component 2 deficiency1 test
Complement component 3 deficiency, autosomal recessive2 tests
Complement component 5 deficiency1 test
Complement component 7 deficiency1 test
Complement factor B deficiency1 test
Complement factor d deficiency3 tests
Complete trisomy 18 syndrome1 test
Complete trisomy 21 syndrome1 test
Cone-rod dystrophy 31 test
Congenital amegakaryocytic thrombocytopenia3 tests
Congenital bilateral aplasia of vas deferens from CFTR mutation1 test
Congenital bile acid synthesis defect 14 tests
Congenital bile acid synthesis defect 24 tests
Congenital bile acid synthesis defect 43 tests
Congenital chromosomal disease1 test
Congenital contractural arachnodactyly2 tests
Congenital disorder of glycosylation type 1M2 tests
Congenital disorder of glycosylation type 1t2 tests
Congenital dyserythropoietic anemia1 test
Congenital dyserythropoietic anemia, type I6 tests
Congenital dyserythropoietic anemia, type II4 tests
Congenital dyserythropoietic anemia, type III3 tests
Congenital dyserythropoietic anemia, type IV3 tests
Congenital heart defects and skeletal malformations syndrome1 test
Congenital heart defects, hamartomas of tongue, and polysyndactyly1 test
Congenital heart defects, multiple types, 22 tests
Congenital heart defects, multiple types, 42 tests
Congenital heart defects, multiple types, 51 test
Congenital heart disease2 tests
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi1 test
Congenital microvillous atrophy2 tests
Congenital muscular dystrophy, LMNA-related3 tests
Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B51 test
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A51 test
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B42 tests
Congenital myasthenic syndrome, acetazolamide-responsive1 test
Congenital neutropenia2 tests
Congenital plasminogen activator inhibitor type 1 deficiency1 test
Conotruncal anomaly face syndrome2 tests
Conotruncal heart malformations4 tests
Cornelia de Lange syndrome 11 test
Cortisone reductase deficiency 21 test
Costello syndrome4 tests
Cowden syndrome3 tests
Cowden syndrome 11 test
Cowden syndrome 51 test
Coxopodopatellar syndrome2 tests
Cranioectodermal dysplasia 21 test
Craniometaphyseal dysplasia, autosomal recessive1 test
Craniosynostosis 11 test
Creatine transporter deficiency1 test
Crigler-Najjar syndrome3 tests
Crigler-Najjar syndrome type 11 test
Crigler-Najjar syndrome, type II1 test
Crouzon syndrome1 test
Curry-Hall syndrome3 tests
Cutaneous telangiectasia and cancer syndrome, familial1 test
Cutis laxa, autosomal dominant 13 tests
Cutis laxa, autosomal dominant 21 test
Cutis laxa, autosomal dominant 32 tests
Cutis laxa, autosomal recessive IIIA2 tests
Cyclical neutropenia3 tests
Cystic fibrosis2 tests
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder1 test
Danon disease6 tests
Deafness, X-linked 23 tests
Deafness, autosomal dominant 11 test
Deafness, autosomal dominant 101 test
Deafness, autosomal dominant 114 tests
Deafness, autosomal dominant 233 tests
Deafness, autosomal dominant 363 tests
Deafness, autosomal dominant 3a1 test
Deafness, autosomal dominant 3b1 test
Deafness, autosomal recessive 124 tests
Deafness, autosomal recessive 161 test
Deafness, autosomal recessive 184 tests
Deafness, autosomal recessive 1A5 tests
Deafness, autosomal recessive 1b2 tests
Deafness, autosomal recessive 24 tests
Deafness, autosomal recessive 234 tests
Deafness, autosomal recessive 314 tests
Deafness, autosomal recessive 373 tests
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct7 tests
Deafness, autosomal recessive 63 tests
Deafness, autosomal recessive 661 test
Deafness, autosomal recessive 73 tests
Deafness, autosomal recessive 83 tests
Deafness, autosomal recessive 93 tests
Deafness, congenital heart defects, and posterior embryotoxon1 test
Deafness, digenic, GJB2/GJB61 test
Deafness, nonsyndromic sensorineural, mitochondrial1 test
Defect of purinergic receptor p2y G protein-coupled 121 test
Deficiency of 3-hydroxyacyl-CoA dehydrogenase3 tests
Deficiency of acetyl-CoA acetyltransferase2 tests
Deficiency of bisphosphoglycerate mutase1 test
Deficiency of butyryl-CoA dehydrogenase3 tests
Deficiency of cytochrome-b5 reductase1 test
Deficiency of guanidinoacetate methyltransferase1 test
Deficiency of hydroxymethylglutaryl-CoA lyase3 tests
Deficiency of malonyl-CoA decarboxylase2 tests
Dehydrated hereditary stomatocytosis 23 tests
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema2 tests
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency3 tests
Dental anomalies and short stature2 tests
Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing1 test
Developmental malformations-deafness-dystonia syndrome1 test
DiGeorge Syndrome1 test
DiGeorge syndrome/velocardiofacial syndrome complex 22 tests
Diabetes mellitus, insulin-dependent, 202 tests
Diamond-Blackfan anemia7 tests
Diamond-Blackfan anemia 11 test
Diamond-Blackfan anemia 103 tests
Diamond-Blackfan anemia 113 tests
Diamond-Blackfan anemia 122 tests
Diamond-Blackfan anemia 131 test
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis2 tests
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis1 test
Diamond-Blackfan anemia 161 test
Diamond-Blackfan anemia 172 tests
Diamond-Blackfan anemia 181 test
Diamond-Blackfan anemia 192 tests
Diamond-Blackfan anemia 201 test
Diamond-Blackfan anemia 32 tests
Diamond-Blackfan anemia 41 test
Diamond-Blackfan anemia 53 tests
Diamond-Blackfan anemia 63 tests
Diamond-Blackfan anemia 73 tests
Diamond-Blackfan anemia 83 tests
Diamond-Blackfan anemia 93 tests
Diamond-Blackfan anemia-like1 test
Diaphragmatic hernia 31 test
Diarrhea 4, malabsorptive, congenital2 tests
Dilated cardiomyopathy 1A6 tests
Dilated cardiomyopathy 1AA2 tests
Dilated cardiomyopathy 1BB2 tests
Dilated cardiomyopathy 1C4 tests
Dilated cardiomyopathy 1CC2 tests
Dilated cardiomyopathy 1DD3 tests
Dilated cardiomyopathy 1E8 tests
Dilated cardiomyopathy 1EE2 tests
Dilated cardiomyopathy 1FF1 test
Dilated cardiomyopathy 1G5 tests
Dilated cardiomyopathy 1GG1 test
Dilated cardiomyopathy 1HH3 tests
Dilated cardiomyopathy 1I3 tests
Dilated cardiomyopathy 1II2 tests
Dilated cardiomyopathy 1J2 tests
Dilated cardiomyopathy 1JJ2 tests
Dilated cardiomyopathy 1KK2 tests
Dilated cardiomyopathy 1L3 tests
Dilated cardiomyopathy 1M1 test
Dilated cardiomyopathy 1O1 test
Dilated cardiomyopathy 1P4 tests
Dilated cardiomyopathy 1R5 tests
Dilated cardiomyopathy 1S5 tests
Dilated cardiomyopathy 1W1 test
Dilated cardiomyopathy 1X3 tests
Dilated cardiomyopathy 1Y3 tests
Dilated cardiomyopathy 1Z1 test
Dilated cardiomyopathy 2A2 tests
Dilated cardiomyopathy 3B3 tests
Dilated cardiomyopathy with left ventricular noncompaction1 test
Dilated cardiomyopathy with woolly hair and keratoderma5 tests
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome1 test
Disorder due cytochrome p450 CYP2C19 variant2 tests
Disorder due cytochrome p450 CYP2D6 variant4 tests
Disorder of bile acid synthesis1 test
Disseminated atypical mycobacterial infection5 tests
Distichiasis-lymphedema syndrome1 test
Dominant dystrophic epidermolysis bullosa with absence of skin1 test
Double outlet right ventricle1 test
Drash syndrome1 test
Duane-radial ray syndrome1 test
Dubin-Johnson syndrome3 tests
Dyschromatosis universalis hereditaria 31 test
Dyskeratosis congenita1 test
Dyskeratosis congenita autosomal recessive 13 tests
Dyskeratosis congenita, X-linked4 tests
Dyskeratosis congenita, autosomal dominant 14 tests
Dyskeratosis congenita, autosomal dominant 62 tests
Dyskeratosis congenita, autosomal dominant, 24 tests
Dyskeratosis congenita, autosomal dominant, 33 tests
Dyskeratosis congenita, autosomal dominant, 42 tests
Dyskeratosis congenita, autosomal recessive 23 tests
Dyskeratosis congenita, autosomal recessive 63 tests
Dyskeratosis congenita, autosomal recessive, 34 tests
Dyskeratosis congenita, autosomal recessive, 54 tests
Dyslexia 11 test
Dystonia 121 test
Dystonia 161 test
Dystonia 92 tests
Dystrophic epidermolysis bullosa3 tests
EAST syndrome3 tests
Early repolarization associated with ventricular fibrillation1 test
Ectodermal dysplasia and immunodeficiency 21 test
Ectopia lentis 2, isolated, autosomal recessive2 tests
Ectopia lentis et pupillae2 tests
Ectopia lentis, isolated, autosomal dominant2 tests
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 31 test
Eculizumab, poor response to2 tests
Ehlers-Danlos syndrome1 test
Ehlers-Danlos syndrome classic type 21 test
Ehlers-Danlos syndrome dermatosparaxis type2 tests
Ehlers-Danlos syndrome due to tenascin-X deficiency3 tests
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss2 tests
Ehlers-Danlos syndrome, arthrochalasia type, 14 tests
Ehlers-Danlos syndrome, cardiac valvular type3 tests
Ehlers-Danlos syndrome, classic type4 tests
Ehlers-Danlos syndrome, hydroxylysine-deficient2 tests
Ehlers-Danlos syndrome, musculocontractural type1 test
Ehlers-Danlos syndrome, musculocontractural type 11 test
Ehlers-Danlos syndrome, type 31 test
Ehlers-Danlos syndrome, type 43 tests
Ehlers-danlos syndrome, arthrochalasia type, 22 tests
Elliptocytosis 14 tests
Elliptocytosis 24 tests
Elliptocytosis 34 tests
Ellis-van Creveld syndrome3 tests
Emery-Dreifuss muscular dystrophy1 test
Emery-Dreifuss muscular dystrophy 1, X-linked4 tests
Emery-Dreifuss muscular dystrophy 3, autosomal recessive1 test
Emery-Dreifuss muscular dystrophy 7, autosomal dominant1 test
Encephalopathy1 test
Encephalopathy, acute, infection-induced, 3, suceptibility to1 test
Epidermolysis bullosa16 tests
Epidermolysis bullosa junctionalis with pyloric atresia3 tests
Epidermolysis bullosa pruriginosa1 test
Epidermolysis bullosa simplex10 tests
Epidermolysis bullosa simplex due to plakophilin deficiency1 test
Epidermolysis bullosa simplex with muscular dystrophy2 tests
Epidermolysis bullosa simplex with pyloric atresia3 tests
Epidermolysis bullosa simplex, Ogna type2 tests
Epidermolysis bullosa simplex, autosomal recessive 21 test
Epidermolysis bullosa simplex, generalized, with scarring and hair loss2 tests
Epidermolysis bullosa, nonspecific, autosomal recessive1 test
Epilepsy, familial focal, with variable foci 11 test
Epilepsy, idiopathic generalized 81 test
Erythrocytosis2 tests
Erythrocytosis, familial, 31 test
Erythrocytosis, familial, 41 test
Erythrocytosis, familial, 53 tests
Erythrokeratodermia variabilis et progressiva 31 test
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency1 test
Exudative vitreoretinopathy 41 test
FG syndrome 11 test
Fabry disease4 tests
Factor H deficiency2 tests
Factor VII deficiency1 test
Familial Mediterranean fever1 test
Familial cancer of breast1 test
Familial cold autoinflammatory syndrome 21 test
Familial cold autoinflammatory syndrome 41 test
Familial erythrocytosis1 test
Familial hemiplegic migraine type 31 test
Familial hemophagocytic lymphohistiocytosis 23 tests
Familial hemophagocytic lymphohistiocytosis 33 tests
Familial hemophagocytic lymphohistiocytosis 43 tests
Familial hypercholesterolemia2 tests
Familial hyperkalemic periodic paralysis1 test
Familial hypertrophic cardiomyopathy 15 tests
Familial hypertrophic cardiomyopathy 103 tests
Familial hypertrophic cardiomyopathy 114 tests
Familial hypertrophic cardiomyopathy 121 test
Familial hypertrophic cardiomyopathy 131 test
Familial hypertrophic cardiomyopathy 141 test
Familial hypertrophic cardiomyopathy 152 tests
Familial hypertrophic cardiomyopathy 162 tests
Familial hypertrophic cardiomyopathy 173 tests
Familial hypertrophic cardiomyopathy 183 tests
Familial hypertrophic cardiomyopathy 23 tests
Familial hypertrophic cardiomyopathy 202 tests
Familial hypertrophic cardiomyopathy 32 tests
Familial hypertrophic cardiomyopathy 43 tests
Familial hypertrophic cardiomyopathy 63 tests
Familial hypertrophic cardiomyopathy 72 tests
Familial hypertrophic cardiomyopathy 82 tests
Familial hypertrophic cardiomyopathy 95 tests
Familial hypokalemia-hypomagnesemia1 test
Familial mediterranean fever, autosomal dominant1 test
Familial partial lipodystrophy 11 test
Familial partial lipodystrophy 33 tests
Familial platelet disorder with associated myeloid malignancy2 tests
Familial restrictive cardiomyopathy2 tests
Familial restrictive cardiomyopathy 13 tests
Familial restrictive cardiomyopathy 34 tests
Familial thoracic aortic aneurysm and aortic dissection3 tests
Familial visceral amyloidosis, Ostertag type1 test
Fanconi anemia3 tests
Fanconi anemia, complementation group A5 tests
Fanconi anemia, complementation group B5 tests
Fanconi anemia, complementation group C5 tests
Fanconi anemia, complementation group D13 tests
Fanconi anemia, complementation group D25 tests
Fanconi anemia, complementation group E5 tests
Fanconi anemia, complementation group F5 tests
Fanconi anemia, complementation group G5 tests
Fanconi anemia, complementation group I5 tests
Fanconi anemia, complementation group J5 tests
Fanconi anemia, complementation group L5 tests
Fanconi anemia, complementation group M1 test
Fanconi anemia, complementation group N5 tests
Fanconi anemia, complementation group O5 tests
Fanconi anemia, complementation group P5 tests
Fanconi anemia, complementation group Q5 tests
Fanconi anemia, complementation group R4 tests
Fanconi anemia, complementation group S3 tests
Fanconi anemia, complementation group T4 tests
Fanconi anemia, complementation group U4 tests
Fanconi anemia, complementation group V3 tests
Fanconi anemia, complementation group W3 tests
Fanconi renotubular syndrome 32 tests
Fanconi-Bickel syndrome4 tests
Febrile seizures, familial, 3a1 test
Feingold syndrome 11 test
Fetal and neonatal alloimmune thrombocytopenia1 test
Fetal hemoglobin quantitative trait locus 11 test
Forebrain defects1 test
Fragile X syndrome1 test
Friedreich ataxia 11 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 41 test
Fructose-biphosphatase deficiency2 tests
Fukuyama congenital muscular dystrophy2 tests
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis4 tests
GLUT1 deficiency syndrome 14 tests
GLUT1 deficiency syndrome 22 tests
GM1 gangliosidosis type 21 test
GM1 gangliosidosis type 31 test
Gallbladder disease 41 test
Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to4 tests
Gaucher disease1 test
Geleophysic dysplasia 21 test
Geleophysic dysplasia 32 tests
Generalized dominant dystrophic epidermolysis bullosa1 test
Generalized epilepsy with febrile seizures plus, type 21 test
Generalized juvenile polyposis/juvenile polyposis coli1 test
Genitopatellar syndrome3 tests
Ghosal hematodiaphyseal dysplasia1 test
Gilbert syndrome1 test
Gilbert syndrome, susceptibility to1 test
Glanzmann thrombasthenia3 tests
Global developmental delay1 test
Glucocorticoid deficiency 51 test
Glucose-6-phosphate transport defect6 tests
Glutathione peroxidase deficiency4 tests
Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to4 tests
Gluthathione synthetase deficiency2 tests
Glycogen storage disease 0, muscle3 tests
Glycogen storage disease IXb3 tests
Glycogen storage disease IXc3 tests
Glycogen storage disease IXd3 tests
Glycogen storage disease XV1 test
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA4 tests
Glycogen storage disease due to hepatic glycogen synthase deficiency3 tests
Glycogen storage disease due to muscle beta-enolase deficiency3 tests
Glycogen storage disease of heart, lethal congenital5 tests
Glycogen storage disease type III4 tests
Glycogen storage disease type IXa13 tests
Glycogen storage disease type X3 tests
Glycogen storage disease, type II5 tests
Glycogen storage disease, type IV3 tests
Glycogen storage disease, type V3 tests
Glycogen storage disease, type VI3 tests
Glycogen storage disease, type VII6 tests
Granulocytopenia with immunoglobulin abnormality2 tests
Gray platelet syndrome1 test
Greig cephalopolysyndactyly syndrome1 test
Griscelli syndrome type 25 tests
Griscelli syndrome type 31 test
Growth failure1 test
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1 test
HNSHA due to aldolase A deficiency6 tests
HSD10 disease3 tests
HYDROPS FETALIS, ALPHA-THALASSEMIA-RELATED1 test
Hajdu-Cheney syndrome2 tests
Hay-Wells syndrome of ectodermal dysplasia1 test
Heart-hand syndrome, Slovenian type1 test
Heimler syndrome 11 test
Heimler syndrome 21 test
Helicobacter pylori infection, susceptibility to1 test
Hemochromatosis type 11 test
Hemochromatosis type 2A1 test
Hemochromatosis type 2B1 test
Hemochromatosis type 31 test
Hemochromatosis type 41 test
Hemoglobin H disease1 test
Hemoglobin, high altitude adaptation1 test
Hemolytic anemia3 tests
Hemolytic anemia due to hexokinase deficiency4 tests
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency4 tests
Hemolytic uremic syndrome, atypical, susceptibility to1 test
Hemophagocytic lymphohistiocytosis, familial, 53 tests
Hemorrhage, intracerebral, susceptibility to1 test
Hennekam lymphangiectasia-lymphedema syndrome 11 test
Hennekam lymphangiectasia-lymphedema syndrome 21 test
Hepatitis b virus, susceptibility to1 test
Hereditary Nephrotic Syndromes, Autosomal Recessive1 test
Hereditary acrodermatitis enteropathica1 test
Hereditary coproporphyria1 test
Hereditary disease1 test
Hereditary elliptocytosis4 tests
Hereditary factor IX deficiency disease1 test
Hereditary factor XI deficiency disease1 test
Hereditary fructosuria4 tests
Hereditary hemorrhagic telangiectasia type 12 tests
Hereditary hyperferritinemia with congenital cataracts1 test
Hereditary melanoma2 tests
Hereditary non-spherocytic hemolytic anemia2 tests
Hereditary pancreatitis6 tests
Hereditary pyropoikilocytosis2 tests
Hereditary spastic paraplegia 5A2 tests
Hereditary spastic paraplegia 9A2 tests
Hereditary stomatocytosis2 tests
Hermansky-Pudlak syndrome 11 test
Hermansky-Pudlak syndrome 103 tests
Hermansky-Pudlak syndrome 25 tests
Hermansky-Pudlak syndrome 31 test
Hermansky-Pudlak syndrome 41 test
Hermansky-Pudlak syndrome 71 test
Hermansky-Pudlak syndrome 81 test
Hermansky-Pudlak syndrome 92 tests
Herpes simplex encephalitis 11 test
Herpes simplex encephalitis 21 test
Herpes simplex encephalitis, susceptibility to, 31 test
Herpes simplex encephalitis, susceptibility to, 41 test
Herpes simplex encephalitis, susceptibility to, 71 test
Heterotaxia3 tests
Heterotaxy, visceral, 1, X-linked2 tests
Heterotaxy, visceral, 2, autosomal1 test
Heterotaxy, visceral, 4, autosomal1 test
Heterotaxy, visceral, 6, autosomal2 tests
Heterotaxy, visceral, 7, autosomal2 tests
Heterotaxy, visceral, 8, autosomal2 tests
Histiocytic medullary reticulosis7 tests
Holt-Oram syndrome3 tests
Huntington disease-like 21 test
Hutchinson-Gilford syndrome4 tests
Hydrolethalus syndrome 22 tests
Hyper-IgE recurrent infection syndrome 1, autosomal dominant2 tests
Hyper-IgM syndrome type 14 tests
Hypercalciuric hypercalcemia1 test
Hypercholanemia, familial8 tests
Hypercholanemia, familial, 21 test
Hypercholesterolaemia1 test
Hypercoagulability1 test
Hyperimmunoglobulin D with periodic fever1 test
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive3 tests
Hyperinsulinemic hypoglycemia, familial, 43 tests
Hyperinsulinism-hyperammonemia syndrome2 tests
Hyperlipidemia, familial combined, LPL related1 test
Hyperlipoproteinemia, type I1 test
Hyperlysinemia1 test
Hyperphenylalaninemia, mild, non-bh4-deficient1 test
Hypertrichotic osteochondrodysplasia Cantu type1 test
Hypertrophic cardiomyopathy2 tests
Hypertrophic cardiomyopathy 253 tests
Hypocalcemia, autosomal dominant 11 test
Hypocalciuric hypercalcemia, familial, type 11 test
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)1 test
Hypogonadotropic hypogonadism 5 with or without anosmia1 test
Hypohidrotic X-linked ectodermal dysplasia1 test
Hypokalemic periodic paralysis 11 test
Hypokalemic periodic paralysis, type 21 test
Hypoplastic left heart syndrome 12 tests
Hypoplastic left heart syndrome 23 tests
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration1 test
Hypothyroidism, congenital, nongoitrous, 52 tests
Hypotonia, infantile, with psychomotor retardation and characteristic facies 32 tests
Hypotrichosis 22 tests
IFAP syndrome with or without BRESHECK syndrome1 test
Idiopathic nephrotic syndrome1 test
Immunodeficiency 142 tests
Immunodeficiency 181 test
Immunodeficiency 18, severe combined immunodeficiency variant2 tests
Immunodeficiency 191 test
Immunodeficiency 221 test
Immunodeficiency 231 test
Immunodeficiency 242 tests
Immunodeficiency 26 with or without neurologic abnormalities3 tests
Immunodeficiency 31C1 test
Immunodeficiency 351 test
Immunodeficiency 38 with basal ganglia calcification1 test
Immunodeficiency 492 tests
Immunodeficiency 502 tests
Immunodeficiency 522 tests
Immunodeficiency 641 test
Immunodeficiency 662 tests
Immunodeficiency 671 test
Immunodeficiency 81 test
Immunodeficiency due to defect in cd3-zeta2 tests
Immunodeficiency due to defect in mapbp-interacting protein4 tests
Immunodeficiency due to ficolin 3 deficiency1 test
Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia4 tests
Immunodeficiency, common variable, 131 test
Immunoglobulin A deficiency 21 test
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 11 test
Infantile GM1 gangliosidosis1 test
Infantile cortical hyperostosis2 tests
Infantile hypophosphatasia1 test
Infantile liver failure1 test
Infantile nephronophthisis3 tests
Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations2 tests
Inflammatory bowel disease 25, autosomal recessive1 test
Inflammatory bowel disease 28, autosomal recessive1 test
Insulin-dependent diabetes mellitus secretory diarrhea syndrome2 tests
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities1 test
Intellectual disability1 test
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital3 tests
Intrauterine growth restriction1 test
Invasive pneumococcal disease, recurrent isolated, 11 test
Jackson-Weiss syndrome1 test
Jervell and Lange-Nielsen syndrome 13 tests
Jervell and Lange-Nielsen syndrome 21 test
Johanson-Blizzard syndrome4 tests
Joubert syndrome 102 tests
Joubert syndrome 181 test
Joubert syndrome 22 tests
Joubert syndrome 201 test
Joubert syndrome 242 tests
Joubert syndrome 282 tests
Joubert syndrome 41 test
Joubert syndrome 91 test
Junctional epidermolysis bullosa3 tests
Junctional epidermolysis bullosa gravis of Herlitz6 tests
Junctional epidermolysis bullosa, non-Herlitz type9 tests
Juvenile myelomonocytic leukemia2 tests
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome2 tests
Kallikrein, decreased urinary activity of1 test
Kartagener syndrome2 tests
Keratosis follicularis spinulosa decalvans, X-linked1 test
Keratosis palmoplantaris striata II2 tests
Keutel syndrome1 test
Kindler syndrome3 tests
Klinefelter syndrome1 test
Kostmann syndrome2 tests
L-ferritin deficiency1 test
LEOPARD syndrome 15 tests
LEOPARD syndrome 25 tests
LEOPARD syndrome 33 tests
Langer mesomelic dysplasia syndrome1 test
Langereis blood group1 test
Langerhans cell histiocytosis1 test
Larsen syndrome1 test
Laryngo-onycho-cutaneous syndrome2 tests
Lateral meningocele syndrome1 test
Lazy leukocyte syndrome1 test
Leaky severe combined immune deficiency1 test
Left ventricular noncompaction3 tests
Left ventricular noncompaction 13 tests
Left ventricular noncompaction 104 tests
Left ventricular noncompaction 65 tests
Left ventricular noncompaction 71 test
Left ventricular noncompaction 82 tests
Legius syndrome3 tests
Leigh syndrome2 tests
Leri-Weill dyschondrosteosis1 test
Lethal acantholytic epidermolysis bullosa3 tests
Lethal tight skin contracture syndrome2 tests
Leukemia, acute lymphoblastic, susceptibility to, 31 test
Leukocyte adhesion deficiency, type III1 test
Leukoencephalopathy with dystonia and motor neuropathy2 tests
Leukoencephalopathy, progressive, with ovarian failure1 test
Levy-Hollister syndrome1 test
Lhermitte-Duclos disease2 tests
Li-Fraumeni syndrome 11 test
Lig4 syndrome4 tests
Limb-girdle muscular dystrophy, type 2J5 tests
Limb-girdle muscular dystrophy, type 2Q2 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C42 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C52 tests
Limb-mammary syndrome1 test
Lissencephaly due to LIS1 mutation1 test
Localized epidermolysis bullosa simplex2 tests
Loeys-Dietz syndrome2 tests
Loeys-Dietz syndrome 13 tests
Loeys-Dietz syndrome 23 tests
Loeys-Dietz syndrome 32 tests
Loeys-Dietz syndrome 42 tests
Loeys-Dietz syndrome 51 test
Long QT syndrome3 tests
Long QT syndrome 13 tests
Long QT syndrome 101 test
Long QT syndrome 111 test
Long QT syndrome 121 test
Long QT syndrome 131 test
Long QT syndrome 141 test
Long QT syndrome 152 tests
Long QT syndrome 22 tests
Long QT syndrome 38 tests
Long QT syndrome 51 test
Long QT syndrome 61 test
Long QT syndrome 81 test
Long QT syndrome 92 tests
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency2 tests
Lucey-Driscoll syndrome1 test
Lung disease, immunodeficiency, and chromosome breakage syndrome3 tests
Lymphedema, primary, with myelodysplasia2 tests
Lymphoproliferative syndrome 14 tests
Lymphoproliferative syndrome 1, X-linked3 tests
Lymphoproliferative syndrome 23 tests
Lymphoproliferative syndrome 2, X-linked3 tests
Lysinuric protein intolerance3 tests
Lysosomal acid lipase deficiency1 test
MASS syndrome2 tests
MPI-CDG2 tests
MTHFR deficiency, thermolabile type2 tests
MYH7-related late-onset scapuloperoneal muscular dystrophy1 test
Macrocephaly with multiple epiphyseal dysplasia and distinctive facies2 tests
Macrocephaly/autism syndrome2 tests
Macroglobulinemia, Waldenstrom, susceptibility to, 11 test
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss2 tests
Majeed syndrome4 tests
Mandibuloacral dysplasia with type A lipodystrophy1 test
Mandibuloacral dysplasia with type B lipodystrophy2 tests
Mandibulofacial dysostosis-microcephaly syndrome1 test
Marfan Syndrome type 21 test
Marfan lipodystrophy syndrome2 tests
Marfan syndrome3 tests
Maturity onset diabetes mellitus in young1 test
Maturity-onset diabetes of the young type 41 test
Maturity-onset diabetes of the young type 82 tests
Maturity-onset diabetes of the young, type 141 test
Maturity-onset diabetes of the young, type 33 tests
McKusick-Kaufman syndrome1 test
McLeod neuroacanthocytosis syndrome4 tests
Meckel syndrome type 13 tests
Meckel syndrome type 62 tests
Meckel syndrome type 73 tests
Meckel syndrome type 81 test
Meckel syndrome, type 111 test
Meckel syndrome, type 21 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency3 tests
Meester-loeys syndrome2 tests
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11 test
Melanoma3 tests
Meningioma, familial1 test
Menke-Hennekam syndrome 11 test
Mental retardation and distinctive facial features with or without cardiac defects1 test
Mental retardation, X-linked, syndromic 102 tests
Mental retardation, X-linked, syndromic 131 test
Mental retardation, autosomal recessive 51 test
Mercaptopurine response1 test
Metachondromatosis1 test
Metaphyseal chondrodysplasia, McKusick type3 tests
Metaphyseal dysplasia without hypotrichosis1 test
Methemoglobinemia type 21 test
Methemoglobinemia, type I1 test
Methylmalonic acidemia3 tests
Mevalonic aciduria1 test
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant1 test
Microcephalic osteodysplastic primordial dwarfism type II1 test
Microcephaly, normal intelligence and immunodeficiency4 tests
Microcytic anemia1 test
Microphthalmia, isolated, with coloboma 71 test
Microvascular complications of diabetes 21 test
Miller Dieker syndrome1 test
Mirage syndrome1 test
Mirror movements 21 test
Mitochondrial DNA Deletion Syndromes1 test
Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant1 test
Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive1 test
Mitochondrial DNA-depletion syndrome 3, hepatocerebral3 tests
Mitochondrial complex 1 deficiency, nuclear type 102 tests
Mitochondrial complex I deficiency1 test
Mitochondrial complex II deficiency, nuclear type 11 test
Mitochondrial trifunctional protein deficiency6 tests
Mucopolysaccharidosis, MPS-II1 test
Mucopolysaccharidosis, MPS-IV-B1 test
Multiple acyl-CoA dehydrogenase deficiency8 tests
Multiple congenital anomalies1 test
Multiple congenital exostosis1 test
Multiple cutaneous and mucosal venous malformations1 test
Multiple exostoses type 21 test
Multiple gastrointestinal atresias3 tests
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects1 test
Multiple mitochondrial dysfunctions syndrome 12 tests
Multisystemic smooth muscle dysfunction syndrome1 test
Mycobacterial and viral infections, susceptibility to, autosomal recessive1 test
Mycobacterium tuberculosis, susceptibility to1 test
Myd88 deficiency1 test
Myelodysplastic syndrome3 tests
Myelofibrosis3 tests
Myhre syndrome2 tests
Myoclonic dystonia 111 test
Myofibrillar myopathy 16 tests
Myofibrillar myopathy, BAG3-related3 tests
Myofibrillar myopathy, filamin C-related5 tests
Myoglobinuria, acute recurrent, autosomal recessive2 tests
Myopathy with extrapyramidal signs1 test
Myopathy with postural muscle atrophy, X-linked2 tests
Myopathy, centronuclear, 51 test
Myopathy, distal, 11 test
Myopathy, distal, 45 tests
Myopathy, early-onset, with fatal cardiomyopathy5 tests
Myopathy, myofibrillar, 9, with early respiratory failure5 tests
Myopathy, myosin storage, autosomal recessive3 tests
Myopathy, reducing body, X-linked, childhood-onset1 test
Myopathy, reducing body, X-linked, early-onset, severe1 test
Myopathy, tubular aggregate, 12 tests
Myopia 61 test
Myosin storage myopathy2 tests
Navajo neurohepatopathy2 tests
Naxos disease5 tests
Nemaline myopathy 11, autosomal recessive1 test
Nemaline myopathy 31 test
Neonatal ichthyosis-sclerosing cholangitis syndrome3 tests
Neonatal intrahepatic cholestasis caused by citrin deficiency3 tests
Neonatal severe hyperparathyroidism1 test
Nephroblastoma1 test
Nephronophthisis1 test
Nephronophthisis 12 tests
Nephronophthisis 162 tests
Nephronophthisis 192 tests
Nephronophthisis 32 tests
Nephronophthisis 41 test
Nephropathic cystinosis1 test
Nephropathy with pretibial epidermolysis bullosa and deafness3 tests
Nephrotic syndrome, type 72 tests
Neurofibromatosis, familial spinal2 tests
Neurofibromatosis, type 14 tests
Neurofibromatosis, type 22 tests
Neurofibromatosis-Noonan syndrome2 tests
Neurogenic scapuloperoneal syndrome, Kaeser type1 test
Neuronal ceroid lipofuscinosis 51 test
Neuropathy, hereditary motor and sensory, Russe type2 tests
Neutropenia, severe congenital 1, autosomal dominant3 tests
Neutropenia, severe congenital, 7, autosomal recessive2 tests
Neutropenia, severe congenital, 8, autosomal dominant1 test
Neutrophil immunodeficiency syndrome5 tests
Niemann-Pick disease type C11 test
Niemann-Pick disease, type A1 test
Niemann-Pick disease, type B2 tests
Niemann-Pick disease, type C1, juvenile form1 test
Niemann-Pick disease, type C22 tests
Noonan syndrome2 tests
Noonan syndrome 15 tests
Noonan syndrome 102 tests
Noonan syndrome 22 tests
Noonan syndrome 33 tests
Noonan syndrome 44 tests
Noonan syndrome 55 tests
Noonan syndrome 63 tests
Noonan syndrome 73 tests
Noonan syndrome 83 tests
Noonan syndrome 92 tests
Noonan syndrome-like disorder with loose anagen hair 14 tests
Noonan syndrome-like disorder with loose anagen hair 22 tests
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia4 tests
Noonan-like syndrome1 test
Obesity2 tests
Oculodentodigital dysplasia2 tests
Oculodentodigital dysplasia, autosomal recessive1 test
Oculofaciocardiodental syndrome2 tests
Oculootoradial syndrome1 test
Odontohypophosphatasia1 test
Ohdo syndrome, X-linked1 test
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1 test
Orofacial cleft 81 test
Orofacial-digital syndrome IV1 test
Orofaciodigital syndrome I2 tests
Orofaciodigital syndrome xiv1 test
Osteogenesis imperfecta type I3 tests
Osteogenesis imperfecta type III5 tests
Osteogenesis imperfecta with normal sclerae, dominant form5 tests
Osteogenesis imperfecta, recessive perinatal lethal5 tests
Osteopetrosis with renal tubular acidosis1 test
Osteoporosis with pseudoglioma1 test
Oto-palato-digital syndrome, type I1 test
Oto-palato-digital syndrome, type II1 test
Ovalocytosis, southeast Asian1 test
POLG-related disorders1 test
Pallister-Hall syndrome1 test
Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked1 test
Pancreatic agenesis 11 test
Pancreatic agenesis and congenital heart disease1 test
Papillary thyroid carcinoma1 test
Paramyotonia congenita of von Eulenburg1 test
Paroxysmal familial ventricular fibrillation 11 test
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome1 test
Peeling skin syndrome 15 tests
Peeling skin syndrome 22 tests
Pendred syndrome4 tests
Periventricular nodular heterotopia 12 tests
Peroxisome biogenesis disorder 10A2 tests
Peroxisome biogenesis disorder 10b1 test
Peroxisome biogenesis disorder 11A2 tests
Peroxisome biogenesis disorder 11B1 test
Peroxisome biogenesis disorder 12A2 tests
Peroxisome biogenesis disorder 13A2 tests
Peroxisome biogenesis disorder 14B1 test
Peroxisome biogenesis disorder 1A (Zellweger)1 test
Peroxisome biogenesis disorder 1B2 tests
Peroxisome biogenesis disorder 2A (Zellweger)2 tests
Peroxisome biogenesis disorder 2B1 test
Peroxisome biogenesis disorder 3A1 test
Peroxisome biogenesis disorder 4B1 test
Peroxisome biogenesis disorder 4a (zellweger)2 tests
Peroxisome biogenesis disorder 5B1 test
Peroxisome biogenesis disorder 5a (zellweger)2 tests
Peroxisome biogenesis disorder 6A2 tests
Peroxisome biogenesis disorder 6B1 test
Peroxisome biogenesis disorder 7A1 test
Peroxisome biogenesis disorder 7B2 tests
Peroxisome biogenesis disorder 8A2 tests
Peroxisome biogenesis disorder 8B1 test
Peroxisome biogenesis disorder 9B1 test
Peroxisome biogenesis disorders1 test
Peroxisome biogenesis disorders, Zellweger syndrome spectrum1 test
Perrault syndrome 11 test
Persistent pulmonary hypertension of the newborn1 test
Pfeiffer syndrome1 test
Pheochromocytoma1 test
Phosphate transport defect1 test
Phosphoenolpyruvate carboxykinase deficiency, cytosolic2 tests
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial2 tests
Phosphoglycerate kinase 1 deficiency5 tests
Pigmentary pallidal degeneration1 test
Pitt-Hopkins-like syndrome 11 test
Pituitary dependent hypercortisolism1 test
Plasminogen deficiency, type I3 tests
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease1 test
Platelet disorder, undefined1 test
Platelet glycoprotein IV deficiency1 test
Platelet-type bleeding disorder 13, susceptibility to1 test
Platelet-type bleeding disorder 151 test
Platelet-type bleeding disorder 162 tests
Platelet-type bleeding disorder 171 test
Platelet-type bleeding disorder 181 test
Platelet-type bleeding disorder 191 test
Platelet-type bleeding disorder 201 test
Platelet-type bleeding disorder 82 tests
Poikiloderma with neutropenia4 tests
Polyarteritis nodosa, childhoood-onset4 tests
Polycystic kidney disease 24 tests
Polycystic kidney disease 31 test
Polycystic kidney disease 41 test
Polycystic kidney disease 52 tests
Polycystic kidney disease 6 with or without polycystic liver disease2 tests
Polycystic liver disease 13 tests
Polycystic liver disease 22 tests
Polycystic liver disease 3 with or without kidney cysts1 test
Polycystic liver disease 4 with or without kidney cysts1 test
Polycythemia vera3 tests
Polyglandular autoimmune syndrome, type 11 test
Polyglucosan body myopathy 21 test
Porokeratosis 3, disseminated superficial actinic type1 test
Postaxial polydactyly type A11 test
Postmenopausal osteoporosis2 tests
Potassium-aggravated myotonia1 test
Prader-Willi syndrome2 tests
Preaxial polydactyly 41 test
Preeclampsia1 test
Prekallikrein deficiency1 test
Pretibial epidermolysis bullosa1 test
Primary ciliary dyskinesia 232 tests
Primary ciliary dyskinesia 242 tests
Primary ciliary dyskinesia 252 tests
Primary dilated cardiomyopathy9 tests
Primary familial hypertrophic cardiomyopathy6 tests
Primary familial polycythemia due to EPO receptor mutation2 tests
Primary hyperoxaluria, type I1 test
Primary hyperoxaluria, type II1 test
Primary hyperoxaluria, type III1 test
Primary immunodeficiency1 test
Primary pulmonary hypertension 12 tests
Primary pulmonary hypertension 21 test
Primary pulmonary hypertension 31 test
Primary pulmonary hypertension 41 test
Primary sclerosing cholangitis2 tests
Progressive bulbar palsy of childhood1 test
Progressive external ophthalmoplegia2 tests
Progressive familial heart block, type 1A1 test
Progressive familial intrahepatic cholestasis2 tests
Progressive familial intrahepatic cholestasis 24 tests
Progressive familial intrahepatic cholestasis 34 tests
Progressive familial intrahepatic cholestasis 44 tests
Progressive sclerosing poliodystrophy2 tests
Prolactin-producing pituitary gland adenoma1 test
Properdin deficiency, X-linked1 test
Propionic acidemia2 tests
Prostate cancer, hereditary, 21 test
Protein-losing enteropathy1 test
Protoporphyria, erythropoietic, X-linked2 tests
Pseudo von Willebrand disease1 test
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency3 tests
Pulmonary arterial hypertension1 test
Pulmonary emphysema co-occurrent with fibrosis of lung1 test
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 12 tests
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 41 test
Pulmonary fibrosis-emphysema2 tests
Pulmonary venoocclusive disease 1, autosomal dominant2 tests
Pulmonary venoocclusive disease 2, autosomal recessive2 tests
Purine-nucleoside phosphorylase deficiency3 tests
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1 test
Pyruvate carboxylase deficiency2 tests
Pyruvate kinase deficiency of red cells4 tests
RAS-associated autoimmune leukoproliferative disorder8 tests
RASGRP1 deficiency1 test
Radial aplasia-thrombocytopenia syndrome3 tests
Radioulnar synostosis with amegakaryocytic thrombocytopenia 11 test
Radioulnar synostosis with amegakaryocytic thrombocytopenia 21 test
Recessive dystrophic epidermolysis bullosa1 test
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome2 tests
Reduced generation of multiple motile cilia (RGMC)1 test
Renal carnitine transport defect4 tests
Renal cell carcinoma, nonpapillary2 tests
Renal cysts and diabetes syndrome2 tests
Renal tubular acidosis with progressive nerve deafness1 test
Renal tubular acidosis, distal, autosomal recessive1 test
Renal tubular acidosis, distal, with hemolytic anemia1 test
Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation1 test
Renal-hepatic-pancreatic dysplasia 12 tests
Renal-hepatic-pancreatic dysplasia 22 tests
Renpenning syndrome 12 tests
Reticular dysgenesis5 tests
Retinal arteries, tortuosity of1 test
Retinal dystrophy with leukodystrophy1 test
Retinitis pigmentosa 191 test
Retinitis pigmentosa 232 tests
Retinitis pigmentosa 394 tests
Retinitis pigmentosa 614 tests
Retinitis pigmentosa 742 tests
Retinoblastoma1 test
Rett syndrome2 tests
Revesz syndrome1 test
Rh-null, regulator type4 tests
Rhabdoid tumor predisposition syndrome 21 test
Rhizomelic chondrodysplasia punctata type 11 test
Rhizomelic chondrodysplasia punctata type 51 test
Riddle syndrome2 tests
Robinow-Sorauf syndrome1 test
Rubinstein-Taybi syndrome 11 test
SCOTT SYNDROME1 test
SHORT syndrome1 test
SUDDEN INFANT DEATH SYNDROME1 test
Saethre-Chotzen syndrome2 tests
Scapuloperoneal myopathy, X-linked dominant1 test
Schimke immuno-osseous dysplasia1 test
Schuurs-hoeijmakers syndrome1 test
Schwannomatosis 12 tests
Sclerosing cholangitis, neonatal1 test
Seborrheic keratosis1 test
Seckel syndrome 13 tests
Seizures, cortical blindness, and microcephaly syndrome1 test
Sengers syndrome2 tests
Senior-Loken syndrome 11 test
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis2 tests
Severe combined immunodeficiency disease3 tests
Severe combined immunodeficiency due to ADA deficiency3 tests
Severe combined immunodeficiency due to CD70 deficiency1 test
Severe combined immunodeficiency due to DCLRE1C deficiency1 test
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation4 tests
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive3 tests
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative3 tests
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive11 tests
Severe congenital neutropenia2 tests
Severe congenital neutropenia 2, autosomal dominant4 tests
Severe congenital neutropenia 4, autosomal recessive4 tests
Severe congenital neutropenia 5, autosomal recessive4 tests
Severe congenital neutropenia 6, autosomal recessive4 tests
Severe myoclonic epilepsy in infancy1 test
Severe neonatal-onset encephalopathy with microcephaly1 test
Short QT syndrome 11 test
Short QT syndrome 23 tests
Short QT syndrome 31 test
Short stature, idiopathic, X-linked1 test
Short-rib thoracic dysplasia 7 with or without polydactyly1 test
Shprintzen syndrome5 tests
Shprintzen-Goldberg syndrome2 tests
Shwachman syndrome1 test
Shwachman-Diamond syndrome 15 tests
Shwachman-Diamond syndrome 22 tests
Sick sinus syndrome 2, autosomal dominant2 tests
Simpson-Golabi-Behmel syndrome type 12 tests
Simpson-Golabi-Behmel syndrome, type 22 tests
Sitosterolemia7 tests
Situs ambiguus2 tests
Skin fragility-woolly hair-palmoplantar keratoderma syndrome2 tests
Smith-Lemli-Opitz syndrome2 tests
Smith-Magenis syndrome3 tests
Sneddon syndrome1 test
Somatotroph adenoma1 test
Sotos syndrome1 test
Sotos syndrome 12 tests
Spastic paraplegia 9b, autosomal recessive2 tests
Specific granule deficiency 22 tests
Spermatogenic failure 182 tests
Spermatogenic failure 272 tests
Spermatogenic failure 461 test
Spherocytosis type 14 tests
Spherocytosis type 24 tests
Spherocytosis type 34 tests
Spherocytosis type 44 tests
Spherocytosis type 54 tests
Spinal muscular atrophy1 test
Spinocerebellar ataxia type 271 test
Split-hand/foot malformation 41 test
Spondylocarpotarsal synostosis syndrome1 test
Spondylocheirodysplasia, Ehlers-Danlos syndrome-like2 tests
Spondylocostal dysostosis 4, autosomal recessive2 tests
Stargardt disease 11 test
Stickler syndrome type 12 tests
Stiff skin syndrome1 test
Sting-associated vasculopathy, infantile-onset1 test
Storage pool disease of platelets1 test
Stormorken syndrome1 test
Stromme syndrome2 tests
Succinyl-CoA acetoacetate transferase deficiency2 tests
Sucrase-isomaltase deficiency1 test
Supravalvar aortic stenosis2 tests
Sweeney-Cox syndrome1 test
Syndactyly type 31 test
Syndromic X-linked intellectual disability Lubs type1 test
T-cell immunodeficiency, congenital alopecia, and nail dystrophy3 tests
T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations5 tests
TARP syndrome1 test
TNF receptor-associated periodic fever syndrome (TRAPS)1 test
Tacrolimus response1 test
Takenouchi-Kosaki syndrome1 test
Tatton-Brown-rahman syndrome1 test
Telangiectasia, hereditary hemorrhagic, type 22 tests
Telangiectasia, hereditary hemorrhagic, type 51 test
Testicular anomalies with or without congenital heart disease1 test
Tetralogy of Fallot10 tests
Thioguanine response1 test
Thrombocythemia 14 tests
Thrombocythemia 31 test
Thrombocytopenia1 test
Thrombocytopenia 12 tests
Thrombocytopenia 22 tests
Thrombocytopenia 31 test
Thrombocytopenia 41 test
Thrombocytopenia 52 tests
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia3 tests
Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis1 test
Thrombocytosis, benign familial microcytic1 test
Thrombophilia due to factor V Leiden2 tests
Thrombophilia due to protein S deficiency, autosomal dominant1 test
Thrombophilia due to protein S deficiency, autosomal recessive1 test
Thrombophilia due to thrombin defect1 test
Thrombophilia due to thrombomodulin defect2 tests
Thrombophilia, X-linked, due to factor IX defect1 test
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant1 test
Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive1 test
Thrombotic thrombocytopenic purpura1 test
Thyrotoxic periodic paralysis 21 test
Tibial muscular dystrophy5 tests
Timothy syndrome2 tests
Tooth agenesis, selective, X-linked, 11 test
Transcolabamin II deficiency4 tests
Transient bullous dermolysis of the newborn1 test
Transposition of the great arteries1 test
Transposition of the great arteries, dextro-looped 13 tests
Transposition of the great arteries, dextro-looped 31 test
Trichohepatoenteric syndrome 11 test
Trichohepatoenteric syndrome 21 test
Triosephosphate isomerase deficiency4 tests
Triploidy1 test
Tropical calcific pancreatitis1 test
Tuberous sclerosis 12 tests
Tuberous sclerosis 22 tests
Turner syndrome1 test
Type 2 diabetes mellitus1 test
Tyrosinemia type I2 tests
Ulnar-mammary syndrome1 test
Upshaw-Schulman syndrome2 tests
Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to4 tests
Uruguay faciocardiomusculoskeletal syndrome2 tests
Usher Syndrome, Type III4 tests
Usher syndrome type 15 tests
Usher syndrome type 1D4 tests
Usher syndrome type 1F5 tests
Usher syndrome type 2c, GPR98/PDZD digenic2 tests
Usher syndrome, type 1B2 tests
Usher syndrome, type 1C4 tests
Usher syndrome, type 1G4 tests
Usher syndrome, type 2A4 tests
Usher syndrome, type 2C3 tests
Usher syndrome, type 2D4 tests
VACTERL association with hydrocephalus2 tests
VACTERL association, X-linked, with or without hydrocephalus2 tests
Van Maldergem syndrome 21 test
Variegate porphyria1 test
Ventricular septal defect 12 tests
Ventricular septal defect 21 test
Ventricular septal defect 32 tests
Ventricular tachycardia, catecholaminergic polymorphic, 22 tests
Ventricular tachycardia, catecholaminergic polymorphic, 32 tests
Ventricular tachycardia, catecholaminergic polymorphic, 41 test
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness4 tests
Very long chain acyl-CoA dehydrogenase deficiency4 tests
Vesicoureteral reflux 32 tests
Vesicoureteral reflux 82 tests
Vici syndrome3 tests
Visceral heterotaxy 5, autosomal2 tests
Visceral myopathy2 tests
Vitamin K-dependent clotting factors, combined deficiency of, 13 tests
Vitamin K-dependent clotting factors, combined deficiency of, 21 test
Von Hippel-Lindau syndrome2 tests
WDR1 deficiency2 tests
WHIM SYNDROME 21 test
Warfarin response3 tests
Warts, hypogammaglobulinemia, infections, and myelokathexis4 tests
Weill-Marchesani syndrome 12 tests
Weill-Marchesani syndrome 22 tests
Williams syndrome1 test
Williams-Beuren region duplication syndrome1 test
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome1 test
Wilson disease3 tests
Wiskott-Aldrich syndrome4 tests
Wiskott-Aldrich syndrome 24 tests
Wolcott-Rallison dysplasia3 tests
Wolff-Parkinson-White pattern3 tests
X-linked agammaglobulinemia1 test
X-linked agammaglobulinemia with growth hormone deficiency1 test
X-linked congenital hemolytic anemia1 test
X-linked ichthyosis with steryl-sulfatase deficiency1 test
X-linked intellectual disability-hypotonic face syndrome2 tests
X-linked mental retardation with marfanoid habitus syndrome2 tests
X-linked severe combined immunodeficiency3 tests
X-linked severe congenital neutropenia2 tests
X-linked sideroblastic anemia with ataxia4 tests
X-linked spondyloepimetaphyseal dysplasia1 test
ZAP70-Related Severe Combined Immunodeficiency2 tests
Zinc deficiency, transient neonatal1 test
aortic root dilation1 test
autosomal dominant palmoplantar keratoderma and congenital alopecia1 test
chronic recurrent pancreatitis1 test
delta Thalassemia1 test
short QT syndrome1 test
Support Center