EGL Genetic Diagnostics (Eurofins Clinical Diagnostics), EGL

General information

EGL Genetic Diagnostics, EGL
Eurofins Clinical Diagnostics
2460 Mountain Industrial Boulevard
Tucker
Georgia
United States - 30084
http://www.egl-eurofins.com/
Organization ID: 500060

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 45028

Gene

GeneSubmissionsLast Updated
A2ML13Sep 19, 2018
AAAS1Sep 19, 2018
AARS110Sep 19, 2018
AARS26Sep 19, 2018
ABAT18Sep 19, 2018
ABCA11Sep 19, 2018
ABCA122Sep 19, 2018
ABCA131Sep 19, 2018
ABCA312Sep 19, 2018
ABCA4148Sep 19, 2018
ABCB14Sep 19, 2018
ABCB11254Sep 19, 2018
ABCB4219Sep 19, 2018
ABCC2244Sep 19, 2018
ABCC69Sep 19, 2018
ABCC818Sep 19, 2018
ABCC97Sep 19, 2018
ABCD159Sep 19, 2018
ABCD41Sep 19, 2018
ABCG587Sep 19, 2018
ABCG8172Sep 19, 2018
ABHD1210Sep 19, 2018
ABHD14A-ACY13Sep 19, 2018
ACACA1Sep 19, 2018
ACAD112Sep 19, 2018
ACAD825Sep 19, 2018
ACAD95Sep 19, 2018
ACADL2Sep 19, 2018
ACADM60Sep 19, 2018
ACADS10Sep 19, 2018
ACADSB3Sep 19, 2018
ACADVL84Sep 19, 2018
ACAN32Sep 19, 2018
ACAT125Sep 19, 2018
ACO21Sep 19, 2018
ACP11Sep 19, 2018
ACP54Sep 19, 2018
ACSF34Sep 19, 2018
ACSL44Sep 19, 2018
ACTA118Sep 19, 2018
ACTA23Sep 19, 2018
ACTB5Sep 19, 2018
ACTC12Sep 19, 2018
ACTG117Sep 19, 2018
ACTN22Sep 19, 2018
ACTN42Sep 19, 2018
ACVR12Sep 19, 2018
ACVR2B1Sep 19, 2018
ACVRL14Sep 19, 2018
ACY13Sep 19, 2018
ACYP12Sep 19, 2018
ADA2Sep 19, 2018
ADAM99Sep 19, 2018
ADAMTS103Sep 19, 2018
ADAMTS132Sep 19, 2018
ADAMTS172Sep 19, 2018
ADAMTS215Sep 19, 2018
ADAMTSL23Sep 19, 2018
ADAMTSL42Sep 19, 2018
ADAMTSL4-AS21Sep 19, 2018
ADAR11Sep 19, 2018
ADAT32Sep 19, 2018
ADCY15Sep 19, 2018
ADCY54Sep 19, 2018
ADGRG130Sep 19, 2018
ADGRV1322Sep 19, 2018
ADNP2Sep 19, 2018
ADNP-AS13Sep 19, 2018
ADSL29Sep 19, 2018
AFF227Sep 19, 2018
AFG3L25Sep 19, 2018
AGA9Sep 19, 2018
AGAP31Sep 19, 2018
AGL37Sep 19, 2018
AGMO2Sep 19, 2018
AGPAT23Sep 19, 2018
AGPS10Sep 19, 2018
AGRN9Sep 19, 2018
AGTR11Sep 19, 2018
AGTR24Sep 19, 2018
AGXT14Sep 19, 2018
AGXT21Sep 19, 2018
AHDC12Sep 19, 2018
AHI130Sep 19, 2018
AICDA2Sep 19, 2018
AIFM12Sep 19, 2018
AIP4Sep 19, 2018
AIPL124Sep 19, 2018
AIRE13Sep 19, 2018
AK21Sep 19, 2018
AKAP913Sep 19, 2018
AKR1D138Sep 19, 2018
AKT11Sep 19, 2018
ALDH18A12Sep 19, 2018
ALDH1A31Sep 19, 2018
ALDH3A26Sep 19, 2018
ALDH5A129Sep 19, 2018
ALDH7A122Sep 19, 2018
ALDOB47Sep 19, 2018
ALG126Sep 19, 2018
ALG118Sep 19, 2018
ALG1214Sep 19, 2018
ALG138Sep 19, 2018
ALG141Sep 19, 2018
ALG27Sep 19, 2018
ALG34Sep 19, 2018
ALG68Sep 19, 2018
ALG813Sep 19, 2018
ALG99Sep 19, 2018
ALK7Sep 19, 2018
ALMS160Sep 19, 2018
ALPL29Sep 19, 2018
ALS21Sep 19, 2018
ALX11Sep 19, 2018
AMACR33Sep 19, 2018
AMER12Sep 19, 2018
AMPD143Sep 19, 2018
AMPD21Sep 19, 2018
AMPD310Sep 19, 2018
AMT1Sep 19, 2018
ANAPC154Sep 19, 2018
ANG1Sep 19, 2018
ANGPT22Sep 19, 2018
ANK11Sep 19, 2018
ANK29Sep 19, 2018
ANK34Sep 19, 2018
ANKH8Sep 19, 2018
ANKK11Sep 19, 2018
ANKRD15Sep 19, 2018
ANKRD113Sep 19, 2018
ANO101Sep 19, 2018
ANO5248Sep 19, 2018
AOPEP1Sep 19, 2018
AP1S21Sep 19, 2018
AP3B12Sep 19, 2018
AP3B21Sep 19, 2018
AP3D11Sep 19, 2018
AP4B11Sep 19, 2018
AP4B1-AS11Sep 19, 2018
AP4M12Sep 19, 2018
AP4S11Sep 19, 2018
APBB12Sep 19, 2018
APC52Sep 19, 2018
APOB9Sep 19, 2018
APOE2Sep 19, 2018
APTX12Sep 19, 2018
AQP21Sep 19, 2018
AQP5-AS11Sep 19, 2018
AR1Nov 3, 2016
ARFGEF1-DT8Sep 19, 2018
ARFGEF210Sep 19, 2018
ARHGAP3127Sep 19, 2018
ARHGEF63Sep 19, 2018
ARHGEF98Sep 19, 2018
ARID1A5Sep 19, 2018
ARID1B6Sep 19, 2018
ARID21Sep 19, 2018
ARID4A1Sep 19, 2018
ARL13B4Sep 19, 2018
ARL61Sep 19, 2018
ARSA59Sep 19, 2018
ARSB23Sep 19, 2018
ARSL1Sep 19, 2018
ARX31Sep 19, 2018
ASAH14Sep 19, 2018
ASCC31Sep 19, 2018
ASCL15Sep 19, 2018
ASIC4-AS17Sep 19, 2018
ASL26Sep 19, 2018
ASMT1Sep 19, 2018
ASPA6Sep 19, 2018
ASPH1Sep 19, 2018
ASPM128Sep 19, 2018
ASS132Sep 19, 2018
ASTN297Sep 19, 2018
ASXL110Sep 19, 2018
ASXL36Sep 19, 2018
ATG16L12Sep 19, 2018
ATL12Sep 19, 2018
ATM82Sep 19, 2018
ATP13A220Sep 19, 2018
ATP1A228Sep 19, 2018
ATP1A37Sep 19, 2018
ATP2A17Sep 19, 2018
ATP2B31Sep 19, 2018
ATP5F1A1Sep 19, 2018
ATP5MF-PTCD11Sep 19, 2018
ATP6AP11Sep 19, 2018
ATP6AP28Sep 19, 2018
ATP6V0A234Sep 19, 2018
ATP6V1B18Sep 19, 2018
ATP7A27Sep 19, 2018
ATP7B60Sep 19, 2018
ATP8B1126Sep 19, 2018
ATPAF23Sep 19, 2018
ATR10Sep 19, 2018
ATRIP6Sep 19, 2018
ATRIP-TREX16Sep 19, 2018
ATRX61Sep 19, 2018
ATXN102Sep 19, 2018
AUH3Sep 19, 2018
AURKC1Sep 19, 2018
AUTS24Sep 19, 2018
AXDND11Sep 19, 2018
AXIN11Sep 19, 2018
AXIN21Sep 19, 2018
B3GALNT25Sep 19, 2018
B3GALT613Sep 19, 2018
B3GAT33Sep 19, 2018
B3GLCT28Sep 19, 2018
B3GNT41Sep 19, 2018
B4GALT16Sep 19, 2018
B4GALT78Sep 19, 2018
B9D21Sep 19, 2018
BAAT45Sep 19, 2018
BAG318Sep 19, 2018
BAP16Sep 19, 2018
BARD11Sep 19, 2018
BBS121Sep 19, 2018
BBS1022Sep 19, 2018
BBS1221Sep 19, 2018
BBS216Sep 19, 2018
BBS418Sep 19, 2018
BBS54Sep 19, 2018
BBS716Sep 19, 2018
BBS918Sep 19, 2018
BCHE1Sep 19, 2018
BCKDHA70Sep 19, 2018
BCKDHB70Sep 19, 2018
BCKDK21Sep 19, 2018
BCL11A1Sep 19, 2018
BCL2L2-PABPN15Sep 19, 2018
BCOR35Sep 19, 2018
BCS1L4Sep 19, 2018
BEST128Sep 19, 2018
BHLHA91Sep 19, 2018
BICD21Sep 19, 2018
BIN119Sep 19, 2018
BIVM-ERCC51Sep 19, 2018
BLK1Sep 19, 2018
BLM44Sep 19, 2018
BLOC1S1-RDH55Sep 19, 2018
BLOC1S34Sep 19, 2018
BMP111Sep 19, 2018
BMP151Sep 19, 2018
BMP211Sep 19, 2018
BMP44Sep 19, 2018
BMPR1A3Sep 19, 2018
BMPR1B6Sep 19, 2018
BMPR22Sep 19, 2018
BPTF1Sep 19, 2018
BRAF28Sep 19, 2018
BRAT12Sep 19, 2018
BRCA197Sep 19, 2018
BRCA2158Sep 19, 2018
BRD23Sep 19, 2018
BRF11Sep 19, 2018
BRIP17Sep 19, 2018
BRWD39Sep 19, 2018
BSCL29Sep 19, 2018
BSND9Sep 19, 2018
BTD43Sep 19, 2018
BTK5Sep 19, 2018
BUB1B4Sep 19, 2018
BUB1B-PAK61Sep 19, 2018
C10orf10522Sep 19, 2018
C11orf6527Sep 19, 2018
C12orf292Sep 19, 2018
C12orf571Sep 19, 2018
C17orf1075Sep 19, 2018
C19orf123Sep 19, 2018
C1QTNF3-AMACR33Sep 19, 2018
C1QTNF532Sep 19, 2018
C1R1Sep 19, 2018
C1orf1052Sep 19, 2018
C2CD34Sep 19, 2018
C2orf881Sep 19, 2018
C3orf803Sep 19, 2018
C8B1Sep 19, 2018
CA24Sep 19, 2018
CA44Sep 19, 2018
CABP24Sep 19, 2018
CABP410Sep 19, 2018
CACNA1A105Sep 19, 2018
CACNA1C97Sep 19, 2018
CACNA1C-AS132Sep 19, 2018
CACNA1C-AS24Sep 19, 2018
CACNA1D11Sep 19, 2018
CACNA1F30Sep 19, 2018
CACNA1H26Sep 19, 2018
CACNA1S3Sep 19, 2018
CACNA2D426Sep 19, 2018
CACNB22Sep 19, 2018
CACNB415Sep 19, 2018
CACNG21Sep 19, 2018
CAD3Sep 19, 2018
CAMTA12Sep 19, 2018
CANT116Sep 19, 2018
CAPN3350Sep 19, 2018
CAPN52Sep 19, 2018
CARD111Sep 19, 2018
CARD11-AS11Sep 19, 2018
CARD142Sep 19, 2018
CASD113Sep 19, 2018
CASK29Sep 19, 2018
CASQ26Sep 19, 2018
CASR32Sep 19, 2018
CATIP-AS22Sep 19, 2018
CAV341Sep 19, 2018
CAVIN17Sep 19, 2018
CBL5Sep 19, 2018
CBLIF1Sep 19, 2018
CBS49Sep 19, 2018
CC2D2A206Sep 19, 2018
CCDC1031Sep 19, 2018
CCDC2213Sep 19, 2018
CCDC28B2Sep 19, 2018
CCDC399Sep 19, 2018
CCDC4023Sep 19, 2018
CCDC505Sep 19, 2018
CCDC88A1Sep 19, 2018
CCDC88C3Sep 19, 2018
CCM21Sep 19, 2018
CCN66Sep 19, 2018
CCNH2Sep 19, 2018
CCT22Sep 19, 2018
CD3202Sep 19, 2018
CD362Sep 19, 2018
CD40LG5Sep 19, 2018
CDC451Sep 19, 2018
CDC734Sep 19, 2018
CDCA7L1Sep 19, 2018
CDH110Sep 19, 2018
CDH23169Sep 19, 2018
CDH23-AS16Sep 19, 2018
CDH330Sep 19, 2018
CDHR120Sep 19, 2018
CDK167Sep 19, 2018
CDK5RAP26Sep 19, 2018
CDKL547Sep 19, 2018
CDKN1B1Sep 19, 2018
CDKN1C18Sep 19, 2018
CDKN2A5Sep 19, 2018
CDON5Sep 19, 2018
CDT12Sep 19, 2018
CEACAM167Sep 19, 2018
CEL1Sep 19, 2018
CENPE1Sep 19, 2018
CENPF2Sep 19, 2018
CENPJ45Sep 19, 2018
CEP1201Sep 19, 2018
CEP1281Sep 19, 2018
CEP1356Sep 19, 2018
CEP15217Sep 19, 2018
CEP1647Sep 19, 2018
CEP290114Sep 19, 2018
CEP411Sep 19, 2018
CEP637Sep 19, 2018
CERKL20Sep 19, 2018
CERS17Sep 19, 2018
CETP1Sep 19, 2018
CFAP4184Sep 19, 2018
CFAP418-AS12Sep 19, 2018
CFH5Sep 19, 2018
CFI1Sep 19, 2018
CFL21Sep 19, 2018
CFTR362Sep 19, 2018
CFTR-AS148Sep 19, 2018
CHAT31Sep 19, 2018
CHD1L3Sep 19, 2018
CHD21Sep 19, 2018
CHD7155Sep 19, 2018
CHD835Sep 19, 2018
CHEK22Sep 19, 2018
CHKB1Sep 19, 2018
CHKB-CPT1B1Sep 19, 2018
CHM11Sep 19, 2018
CHMP1A5Sep 19, 2018
CHMP2B2Sep 19, 2018
CHPT12Sep 19, 2018
CHRNA15Sep 19, 2018
CHRNA230Sep 19, 2018
CHRNA449Sep 19, 2018
CHRNB18Sep 19, 2018
CHRNB211Sep 19, 2018
CHRND21Sep 19, 2018
CHRNE19Sep 19, 2018
CHRNG13Sep 19, 2018
CHROMR1Sep 19, 2018
CHST1413Sep 19, 2018
CHST314Sep 19, 2018
CHST63Sep 19, 2018
CHSY114Sep 19, 2018
CIB27Sep 19, 2018
CIC1Sep 19, 2018
CIITA1Sep 19, 2018
CILK111Sep 19, 2018
CISD21Sep 19, 2018
CKAP2L1Sep 19, 2018
CLCC11Sep 19, 2018
CLCN19Sep 19, 2018
CLCN21Sep 19, 2018
CLCN41Sep 19, 2018
CLCN54Sep 19, 2018
CLCN710Sep 19, 2018
CLCNKB1Sep 19, 2018
CLDN124Sep 19, 2018
CLDN148Sep 19, 2018
CLDN1625Sep 19, 2018
CLIC23Sep 19, 2018
CLIC53Sep 19, 2018
CLN328Sep 19, 2018
CLN526Sep 19, 2018
CLN620Sep 19, 2018
CLN823Sep 19, 2018
CLP11Sep 19, 2018
CLPB3Sep 19, 2018
CLPP6Sep 19, 2018
CLRN18Sep 19, 2018
CLRN1-AS11Sep 19, 2018
CNGA110Sep 19, 2018
CNGA325Sep 19, 2018
CNGB145Sep 19, 2018
CNGB325Sep 19, 2018
CNKSR26Sep 19, 2018
CNNM47Sep 19, 2018
CNPY41Sep 19, 2018
CNTN41Sep 19, 2018
CNTNAP2105Sep 19, 2018
COA51Sep 19, 2018
COCH12Sep 19, 2018
COG119Sep 19, 2018
COG410Sep 19, 2018
COG510Sep 19, 2018
COG613Sep 19, 2018
COG711Sep 19, 2018
COG89Sep 19, 2018
COL10A111Sep 19, 2018
COL11A166Sep 19, 2018
COL11A281Sep 19, 2018
COL12A11Sep 19, 2018
COL17A13Sep 19, 2018
COL18A12Sep 19, 2018
COL1A179Sep 19, 2018
COL1A238Sep 19, 2018
COL27A13Sep 19, 2018
COL2A1121Sep 19, 2018
COL3A119Sep 19, 2018
COL4A132Sep 19, 2018
COL4A22Sep 19, 2018
COL4A317Sep 19, 2018
COL4A417Sep 19, 2018
COL4A515Sep 19, 2018
COL4A68Sep 19, 2018
COL5A145Sep 19, 2018
COL5A224Sep 19, 2018
COL6A1441Sep 19, 2018
COL6A2505Sep 19, 2018
COL6A3753Sep 19, 2018
COL6A62Sep 19, 2018
COL7A14Sep 19, 2018
COL9A142Sep 19, 2018
COL9A228Sep 19, 2018
COL9A337Sep 19, 2018
COLQ14Sep 19, 2018
COMP13Sep 19, 2018
COQ23Sep 19, 2018
COQ41Sep 19, 2018
COQ61Sep 19, 2018
COQ8A11Sep 19, 2018
COX103Sep 19, 2018
COX154Sep 19, 2018
COX4I22Sep 19, 2018
CP11Sep 19, 2018
CPA618Sep 19, 2018
CPEB1-AS11Sep 19, 2018
CPLANE140Sep 19, 2018
CPOX1Sep 19, 2018
CPS113Sep 19, 2018
CPT1A26Sep 19, 2018
CPT1C1Sep 19, 2018
CPT231Sep 19, 2018
CRB134Sep 19, 2018
CRB21Sep 19, 2018
CREBBP137Sep 19, 2018
CRELD14Sep 19, 2018
CRLF11Sep 19, 2018
CRPPA108Sep 19, 2018
CRPPA-AS126Sep 19, 2018
CRTAP8Sep 19, 2018
CRX11Sep 19, 2018
CRYAB4Sep 19, 2018
CRYBA11Sep 19, 2018
CRYM5Sep 19, 2018
CSF2RA3Sep 19, 2018
CSMD11Sep 19, 2018
CSPP11Sep 19, 2018
CSRP31Sep 19, 2018
CSTB6Sep 19, 2018
CTC13Sep 19, 2018
CTCF3Sep 19, 2018
CTDP112Sep 19, 2018
CTH1Sep 19, 2018
CTNNB13Sep 19, 2018
CTNS11Sep 19, 2018
CTSA1Sep 19, 2018
CTSC2Sep 19, 2018
CTSD19Sep 19, 2018
CTSF2Sep 19, 2018
CTSK5Sep 19, 2018
CUBN12Sep 19, 2018
CUL31Sep 19, 2018
CUL4B5Sep 19, 2018
CUL786Sep 19, 2018
CXCR41Sep 19, 2018
CYB5R31Sep 19, 2018
CYBA13Sep 19, 2018
CYBB2Sep 19, 2018
CYC11Sep 19, 2018
CYP11B11Sep 19, 2018
CYP17A11Sep 19, 2018
CYP1B125Sep 19, 2018
CYP21A214Sep 19, 2018
CYP24A12Sep 19, 2018
CYP27A1113Sep 19, 2018
CYP27B12Sep 19, 2018
CYP2C196Sep 19, 2018
CYP2C94Sep 19, 2018
CYP2D615Sep 19, 2018
CYP2U11Sep 19, 2018
CYP4V215Sep 19, 2018
CYP7A150Sep 19, 2018
CYP7B159Sep 19, 2018
DAG1121Sep 19, 2018
DARS12Sep 19, 2018
DARS23Sep 19, 2018
DBH1Sep 19, 2018
DBNL5Sep 19, 2018
DBT52Sep 19, 2018
DCAF173Sep 19, 2018
DCDC248Sep 19, 2018
DCHS16Sep 19, 2018
DCLRE1C12Sep 19, 2018
DCPS2Sep 19, 2018
DCTN19Sep 19, 2018
DCX8Sep 19, 2018
DDC3Sep 19, 2018
DDC-AS12Sep 19, 2018
DDHD11Sep 19, 2018
DDOST8Sep 19, 2018
DDR29Sep 19, 2018
DDX3X1Sep 19, 2018
DEAF12Sep 19, 2018
DES105Sep 19, 2018
DGKE2Sep 19, 2018
DGUOK47Sep 19, 2018
DGUOK-AS14Sep 19, 2018
DHCR247Sep 19, 2018
DHCR7113Sep 19, 2018
DHDDS6Sep 19, 2018
DHFR1Sep 19, 2018
DHODH1Sep 19, 2018
DIABLO3Sep 19, 2018
DIAPH117Sep 19, 2018
DIAPH32Sep 19, 2018
DIP2A1Sep 19, 2018
DIP2B1Sep 19, 2018
DIS3L21Sep 19, 2018
DISP11Sep 19, 2018
DKC16Sep 19, 2018
DLAT4Sep 19, 2018
DLD5Sep 19, 2018
DLG39Sep 19, 2018
DLG43Sep 19, 2018
DLL312Sep 19, 2018
DLX36Sep 19, 2018
DM1-AS5Sep 19, 2018
DMAC2L1Sep 19, 2018
DMD936Sep 19, 2018
DMGDH1Sep 19, 2018
DMP110Sep 19, 2018
DNA21Sep 19, 2018
DNAAF112Sep 19, 2018
DNAAF211Sep 19, 2018
DNAAF39Sep 19, 2018
DNAAF42Sep 19, 2018
DNAAF4-CCPG12Sep 19, 2018
DNAH11Sep 19, 2018
DNAH101Sep 19, 2018
DNAH1162Sep 19, 2018
DNAH548Sep 19, 2018
DNAI19Sep 19, 2018
DNAI210Sep 19, 2018
DNAJB22Sep 19, 2018
DNAJB667Sep 19, 2018
DNAJC31Sep 19, 2018
DNAJC56Sep 19, 2018
DNAL13Sep 19, 2018
DNASE1L31Sep 19, 2018
DNM11Sep 19, 2018
DNM213Sep 19, 2018
DNMT130Sep 19, 2018
DNMT3A4Sep 19, 2018
DNMT3B1Sep 19, 2018
DOCK611Sep 19, 2018
DOCK85Sep 19, 2018
DOK739Sep 19, 2018
DOLK7Sep 19, 2018
DPAGT14Sep 19, 2018
DPM13Sep 19, 2018
DPM23Sep 19, 2018
DPYD11Sep 19, 2018
DPYD-AS13Sep 19, 2018
DPYS2Sep 19, 2018
DRC11Sep 19, 2018
DRD27Sep 19, 2018
DRD53Sep 19, 2018
DSC25Sep 19, 2018
DSG211Sep 19, 2018
DSG2-AS15Sep 19, 2018
DSP21Sep 19, 2018
DSPP23Sep 19, 2018
DST1Sep 19, 2018
DTNA1Sep 19, 2018
DUOX22Sep 19, 2018
DUOXA11Sep 19, 2018
DUOXA21Sep 19, 2018
DYM16Sep 19, 2018
DYNC1H124Sep 19, 2018
DYNC2H1102Sep 19, 2018
DYNC2I21Sep 19, 2018
DYNC2LI158Sep 19, 2018
DYRK1A5Sep 19, 2018
DYSF675Sep 19, 2018
EARS27Sep 19, 2018
EBP2Sep 19, 2018
ECEL11Sep 19, 2018
EDA6Sep 19, 2018
EDAR6Sep 19, 2018
EDARADD2Sep 19, 2018
EDN32Sep 19, 2018
EDNRB3Sep 19, 2018
EDNRB-AS12Sep 19, 2018
EEF2KMT2Sep 19, 2018
EFEMP110Sep 19, 2018
EFEMP21Sep 19, 2018
EFHC122Sep 19, 2018
EFHC22Sep 19, 2018
EGR24Sep 19, 2018
EHHADH92Sep 19, 2018
EHMT183Sep 19, 2018
EIF2AK312Sep 19, 2018
EIF2B13Sep 19, 2018
EIF2B22Sep 19, 2018
EIF2B35Sep 19, 2018
EIF2B46Sep 19, 2018
EIF2B57Sep 19, 2018
ELANE1Sep 19, 2018
ELMOD32Sep 19, 2018
ELN14Sep 19, 2018
ELN-AS11Sep 19, 2018
ELOVL47Sep 19, 2018
ELP115Sep 19, 2018
ELP21Sep 19, 2018
ELP42Sep 19, 2018
EMC11Sep 19, 2018
EMC1-AS11Sep 19, 2018
EMC41Sep 19, 2018
EMD53Sep 19, 2018
EMX27Sep 19, 2018
EMX2OS6Sep 19, 2018
ENG12Sep 19, 2018
ENO35Sep 19, 2018
ENPP122Sep 19, 2018
ENTPD11Sep 19, 2018
ENTPD1-AS11Sep 19, 2018
ENTPD51Sep 19, 2018
EOMES7Sep 19, 2018
EP30068Sep 19, 2018
EPB41L4A1Sep 19, 2018
EPG57Sep 19, 2018
EPM2A17Sep 19, 2018
EPM2A-DT7Sep 19, 2018
EPS89Sep 19, 2018
ERAP11Sep 19, 2018
ERAP21Sep 19, 2018
ERCC23Sep 19, 2018
ERCC44Sep 19, 2018
ERCC51Sep 19, 2018
ERCC650Sep 19, 2018
ERCC6-PGBD314Sep 19, 2018
ERCC817Sep 19, 2018
ERCC8-AS12Sep 19, 2018
ERF1Sep 19, 2018
ERLIN11Sep 19, 2018
ERLIN21Sep 19, 2018
ESCO218Sep 19, 2018
ESPN1Sep 19, 2018
ESR114Sep 19, 2018
ESR214Sep 19, 2018
ESRRB8Sep 19, 2018
ETFA6Sep 19, 2018
ETFB3Sep 19, 2018
ETFDH11Sep 19, 2018
EVC58Sep 19, 2018
EVC248Sep 19, 2018
EXOSC32Sep 19, 2018
EXT16Sep 19, 2018
EXT213Sep 19, 2018
EYA16Sep 19, 2018
EYA43Sep 19, 2018
EYS78Sep 19, 2018
EZH25Sep 19, 2018
F1110Sep 19, 2018
F11-AS11Sep 19, 2018
F13B1Sep 19, 2018
F72Sep 19, 2018
F81Sep 19, 2018
F92Sep 19, 2018
FA2H3Sep 19, 2018
FAAH22Sep 19, 2018
FAH58Sep 19, 2018
FAM104A1Sep 19, 2018
FAM111A1Sep 19, 2018
FAM126A1Sep 19, 2018
FAM161A18Sep 19, 2018
FAM205A1Sep 19, 2018
FAM20A1Sep 19, 2018
FAM20C21Sep 19, 2018
FANCA6Sep 19, 2018
FANCB8Sep 19, 2018
FANCC7Sep 19, 2018
FANCI7Sep 19, 2018
FANCL1Nov 3, 2016
FAR11Sep 19, 2018
FASTKD28Sep 19, 2018
FAT13Sep 19, 2018
FAT47Sep 19, 2018
FBLN117Sep 19, 2018
FBLN54Sep 19, 2018
FBN172Sep 19, 2018
FBN241Sep 19, 2018
FBP12Sep 19, 2018
FBXL312Sep 19, 2018
FBXL41Sep 19, 2018
FBXL61Sep 19, 2018
FBXO311Sep 19, 2018
FBXO74Sep 19, 2018
FBXW411Sep 19, 2018
FERMT11Sep 19, 2018
FERMT311Sep 19, 2018
FGD149Sep 19, 2018
FGD47Sep 19, 2018
FGF102Sep 19, 2018
FGF141Sep 19, 2018
FGF231Sep 19, 2018
FGF34Sep 19, 2018
FGFR117Sep 19, 2018
FGFR221Sep 19, 2018
FGFR345Sep 19, 2018
FH29Sep 19, 2018
FHL143Sep 19, 2018
FIG49Sep 19, 2018
FIGLA2Sep 19, 2018
FKBP1019Sep 19, 2018
FKBP143Sep 19, 2018
FKBP14-AS13Sep 19, 2018
FKRP120Sep 19, 2018
FKTN93Sep 19, 2018
FLCN33Sep 19, 2018
FLG2Sep 19, 2018
FLNA150Sep 19, 2018
FLNB58Sep 19, 2018
FLNB-AS12Sep 19, 2018
FLNC71Sep 19, 2018
FLNC-AS124Sep 19, 2018
FLVCR13Sep 19, 2018
FLVCR24Sep 19, 2018
FMN145Sep 19, 2018
FMN29Sep 19, 2018
FMR116Sep 19, 2018
FMR1-AS11Sep 19, 2018
FOLR115Sep 19, 2018
FOXC130Sep 19, 2018
FOXE14Sep 19, 2018
FOXE315Sep 19, 2018
FOXG131Sep 19, 2018
FOXH112Sep 19, 2018
FOXI19Sep 19, 2018
FOXL23Sep 19, 2018
FOXN12Sep 19, 2018
FOXP121Sep 19, 2018
FOXP231Sep 19, 2018
FOXP38Sep 19, 2018
FOXRED16Sep 19, 2018
FRAS179Sep 19, 2018
FREM130Sep 19, 2018
FREM264Sep 19, 2018
FREM31Sep 19, 2018
FRMPD48Sep 19, 2018
FSCN228Sep 19, 2018
FSHR3Sep 19, 2018
FTCD26Sep 19, 2018
FTCD-AS14Sep 19, 2018
FTH16Sep 19, 2018
FTO1Sep 19, 2018
FTSJ12Sep 19, 2018
FUCA15Sep 19, 2018
FXN4Sep 19, 2018
FZD47Sep 19, 2018
FZD61Sep 19, 2018
G6PC111Sep 19, 2018
G6PD50Sep 19, 2018
GAA331Sep 19, 2018
GABRA119Sep 19, 2018
GABRB31Sep 19, 2018
GABRG29Sep 19, 2018
GABRP1Sep 19, 2018
GALC51Sep 19, 2018
GALE37Sep 19, 2018
GALK19Sep 19, 2018
GALNS56Sep 19, 2018
GALNT39Sep 19, 2018
GALT127Sep 19, 2018
GAMT9Sep 19, 2018
GAN2Sep 19, 2018
GAREM27Sep 19, 2018
GARS19Sep 19, 2018
GATA23Sep 19, 2018
GATA61Sep 19, 2018
GATAD146Sep 19, 2018
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PKHD1594Sep 19, 2018
PKLR3Sep 19, 2018
PKP11Sep 19, 2018
PKP213Sep 19, 2018
PLA2G51Sep 19, 2018
PLA2G61Sep 19, 2018
PLCB134Sep 19, 2018
PLCE16Sep 19, 2018
PLCE1-AS12Sep 19, 2018
PLCH22Sep 19, 2018
PLD31Sep 19, 2018
PLEC1088Sep 19, 2018
PLEKHG21Sep 19, 2018
PLEKHG542Sep 19, 2018
PLG2Sep 19, 2018
PLOD17Sep 19, 2018
PLOD211Sep 19, 2018
PLP110Sep 19, 2018
PLUT2Sep 19, 2018
PMM240Sep 19, 2018
PMP225Sep 19, 2018
PMS11Sep 19, 2018
PMS239Sep 19, 2018
PNKD2Sep 19, 2018
PNKP65Sep 19, 2018
PNP1Sep 19, 2018
PNPLA11Sep 19, 2018
PNPLA68Sep 19, 2018
PNPO8Sep 19, 2018
PNPT17Sep 19, 2018
POC1A1Sep 19, 2018
POGZ3Sep 19, 2018
POLD19Sep 19, 2018
POLE2Sep 19, 2018
POLG225Sep 19, 2018
POLG21Sep 19, 2018
POLR1C10Sep 19, 2018
POLR1D1Sep 19, 2018
POLR2F6Sep 19, 2018
POLR3A3Sep 19, 2018
POLR3B2Sep 19, 2018
POMC8Sep 19, 2018
POMGNT1114Sep 19, 2018
POMGNT21Sep 19, 2018
POMT1161Sep 19, 2018
POMT2145Sep 19, 2018
POP11Sep 19, 2018
POR4Sep 19, 2018
PORCN6Sep 19, 2018
POU1F17Sep 19, 2018
POU3F43Sep 19, 2018
PPIB2Sep 19, 2018
PPP1CB1Sep 19, 2018
PPP1R3A1Sep 19, 2018
PPP2R1A1Sep 19, 2018
PPP2R5D1Sep 19, 2018
PPT118Sep 19, 2018
PQBP19Sep 19, 2018
PRDM161Sep 19, 2018
PRDM55Sep 19, 2018
PREPL2Sep 19, 2018
PRF12Sep 19, 2018
PRICKLE135Sep 19, 2018
PRICKLE224Sep 19, 2018
PRICKLE2-AS18Sep 19, 2018
PRICKLE2-AS31Sep 19, 2018
PRKAG28Sep 19, 2018
PRKAR1A3Sep 19, 2018
PRKCG3Sep 19, 2018
PRKCSH10Sep 19, 2018
PRKDC4Sep 19, 2018
PRKN7Sep 19, 2018
PRKRA1Sep 19, 2018
PRMT91Sep 19, 2018
PROC1Sep 19, 2018
PRODH1Sep 19, 2018
PROK21Sep 19, 2018
PROKR22Sep 19, 2018
PROM132Sep 19, 2018
PROP115Sep 19, 2018
PRPF35Sep 19, 2018
PRPF3114Sep 19, 2018
PRPF68Sep 19, 2018
PRPF818Sep 19, 2018
PRPH216Sep 19, 2018
PRPS14Sep 19, 2018
PRRT225Sep 19, 2018
PRSS12Sep 19, 2018
PRSS234Sep 19, 2018
PRX14Sep 19, 2018
PSAP9Sep 19, 2018
PSEN13Sep 19, 2018
PSMC3IP1Sep 19, 2018
PTCD11Sep 19, 2018
PTCH117Sep 19, 2018
PTCH21Sep 19, 2018
PTCHD113Sep 19, 2018
PTCHD1-AS4Sep 19, 2018
PTEN52Sep 19, 2018
PTH1R12Sep 19, 2018
PTHLH2Sep 19, 2018
PTPN1143Sep 19, 2018
PTPN231Sep 19, 2018
PTPRQ3Sep 19, 2018
PUF601Sep 19, 2018
PURA2Sep 19, 2018
PUS109Sep 19, 2018
PUS32Sep 19, 2018
PYCR15Sep 19, 2018
PYCR21Nov 3, 2016
PYGL18Sep 19, 2018
PYGM53Sep 19, 2018
PYY1Sep 19, 2018
QDPR2Sep 19, 2018
RAB281Sep 19, 2018
RAB33A2Sep 19, 2018
RAB39B1Sep 19, 2018
RAB3GAP17Sep 19, 2018
RAB3GAP28Sep 19, 2018
RAB7A1Sep 19, 2018
RAB9B10Sep 19, 2018
RAD212Sep 19, 2018
RAD505Sep 19, 2018
RAD51C4Sep 19, 2018
RAD51D12Sep 19, 2018
RAD51L3-RFFL12Sep 19, 2018
RAF119Sep 19, 2018
RAG12Sep 19, 2018
RAG21Sep 19, 2018
RAI187Sep 19, 2018
RALGDS1Sep 19, 2018
RANBP26Sep 19, 2018
RANGRF2Sep 19, 2018
RAPSN11Sep 19, 2018
RARS26Sep 19, 2018
RASA13Sep 19, 2018
RASGRP212Sep 19, 2018
RAX1Sep 19, 2018
RAX27Sep 19, 2018
RB137Sep 19, 2018
RBBP81Sep 19, 2018
RBM105Sep 19, 2018
RBM2016Sep 19, 2018
RBM8A4Sep 19, 2018
RBP322Sep 19, 2018
RBP44Sep 19, 2018
RD35Sep 19, 2018
RDH129Sep 19, 2018
RDH131Sep 19, 2018
RDH55Sep 19, 2018
RDX7Sep 19, 2018
RECQL481Sep 19, 2018
REEP12Sep 19, 2018
RELN179Sep 19, 2018
RET48Sep 19, 2018
RETREG13Sep 19, 2018
RETREG1-AS11Sep 19, 2018
RFT15Sep 19, 2018
RFX63Sep 19, 2018
RGR10Sep 19, 2018
RGS910Sep 19, 2018
RGS9BP8Sep 19, 2018
RHO9Sep 19, 2018
RIF145Sep 19, 2018
RIMS115Sep 19, 2018
RIN21Sep 19, 2018
RIPOR25Sep 19, 2018
RIPPLY21Sep 19, 2018
RIT13Sep 19, 2018
RLBP113Sep 19, 2018
RLIM1Sep 19, 2018
RNASE41Sep 19, 2018
RNASEH12Sep 19, 2018
RNASEH2A2Sep 19, 2018
RNASEH2B3Sep 19, 2018
RNASEH2C2Sep 19, 2018
RNF1355Sep 19, 2018
RNF1683Sep 19, 2018
RNF179Sep 19, 2018
RNF2132Sep 19, 2018
ROBO11Sep 19, 2018
ROBO31Sep 19, 2018
ROM114Sep 19, 2018
ROR264Sep 19, 2018
RP137Sep 19, 2018
RP1L18Sep 19, 2018
RP26Sep 19, 2018
RP97Sep 19, 2018
RPE6515Sep 19, 2018
RPGR27Sep 19, 2018
RPGRIP142Sep 19, 2018
RPGRIP1L52Sep 19, 2018
RPL105Sep 19, 2018
RPL36A-HNRNPH2199Sep 19, 2018
RPL51Sep 19, 2018
RPN24Sep 19, 2018
RPS6KA318Sep 19, 2018
RS110Sep 19, 2018
RSPH12Sep 19, 2018
RSPH31Sep 19, 2018
RSPH4A10Sep 19, 2018
RSPH92Sep 19, 2018
RTTN20Sep 19, 2018
RUNX27Sep 19, 2018
RUSC21Sep 19, 2018
RXYLT14Sep 19, 2018
RXYLT1-AS11Sep 19, 2018
RYR1259Sep 19, 2018
RYR2101Sep 19, 2018
S100PBP1Sep 19, 2018
SACS59Sep 19, 2018
SAG13Sep 19, 2018
SALL141Sep 19, 2018
SALL440Sep 19, 2018
SAMHD12Sep 19, 2018
SAR1B1Sep 19, 2018
SARM11Sep 19, 2018
SBDS2Sep 19, 2018
SBF28Sep 19, 2018
SBF2-AS13Sep 19, 2018
SCAMP42Sep 19, 2018
SCARB11Sep 19, 2018
SCARB216Sep 19, 2018
SCN10A6Sep 19, 2018
SCN11A2Sep 19, 2018
SCN1A157Sep 19, 2018
SCN1A-AS176Sep 19, 2018
SCN1B19Sep 19, 2018
SCN2A46Sep 19, 2018
SCN3A37Sep 19, 2018
SCN4A33Sep 19, 2018
SCN5A36Sep 19, 2018
SCN7A1Sep 19, 2018
SCN8A44Sep 19, 2018
SCN9A82Sep 19, 2018
SCNN1A8Sep 19, 2018
SCNN1B9Sep 19, 2018
SCNN1G4Sep 19, 2018
SCO12Sep 19, 2018
SCO24Sep 19, 2018
SCP229Sep 19, 2018
SDCCAG811Sep 19, 2018
SDHA1Sep 19, 2018
SDHAF12Sep 19, 2018
SDHAF22Sep 19, 2018
SDHB9Sep 19, 2018
SDHC3Sep 19, 2018
SDHD2Sep 19, 2018
SEC23B23Sep 19, 2018
SEC24D1Sep 19, 2018
SEC638Sep 19, 2018
SELENON44Sep 19, 2018
SEMA3A3Sep 19, 2018
SEMA4A15Sep 19, 2018
SEPSECS1Sep 19, 2018
SEPT5-GP1BB2Sep 19, 2018
SERAC12Sep 19, 2018
SERPINA176Sep 19, 2018
SERPINB63Sep 19, 2018
SERPINC11Sep 19, 2018
SERPINF17Sep 19, 2018
SERPINH115Sep 19, 2018
SESN31Sep 19, 2018
SETBP14Sep 19, 2018
SETD52Sep 19, 2018
SETX20Sep 19, 2018
SFTA31Sep 19, 2018
SFTPB6Sep 19, 2018
SFTPC3Sep 19, 2018
SFTPD2Sep 19, 2018
SGCA123Sep 19, 2018
SGCB75Sep 19, 2018
SGCD58Sep 19, 2018
SGCE14Sep 19, 2018
SGCG80Sep 19, 2018
SGSH28Sep 19, 2018
SH2B32Sep 19, 2018
SH2D1A2Sep 19, 2018
SH3BP21Sep 19, 2018
SH3PXD2B23Sep 19, 2018
SH3TC223Sep 19, 2018
SHANK35Sep 19, 2018
SHH19Sep 19, 2018
SHOC26Sep 19, 2018
SHOX22Sep 19, 2018
SHOX24Sep 19, 2018
SHROOM31Sep 19, 2018
SHROOM417Sep 19, 2018
SI1Sep 19, 2018
SIK11Sep 19, 2018
SIL126Sep 19, 2018
SIM12Sep 19, 2018
SIM1-AS11Sep 19, 2018
SIN3A2Sep 19, 2018
SIRT61Sep 19, 2018
SIX14Sep 19, 2018
SIX318Sep 19, 2018
SIX58Sep 19, 2018
SKI13Sep 19, 2018
SKIV2L2Sep 19, 2018
SLC10A170Sep 19, 2018
SLC10A268Sep 19, 2018
SLC12A12Sep 19, 2018
SLC12A32Sep 19, 2018
SLC12A5-AS19Sep 19, 2018
SLC12A67Sep 19, 2018
SLC16A121Sep 19, 2018
SLC16A223Sep 19, 2018
SLC17A57Sep 19, 2018
SLC17A89Sep 19, 2018
SLC19A11Sep 19, 2018
SLC19A24Sep 19, 2018
SLC19A318Sep 19, 2018
SLC1A34Sep 19, 2018
SLC20A23Sep 19, 2018
SLC22A545Sep 19, 2018
SLC24A114Sep 19, 2018
SLC24A53Sep 19, 2018
SLC25A121Sep 19, 2018
SLC25A1373Sep 19, 2018
SLC25A152Sep 19, 2018
SLC25A1912Sep 19, 2018
SLC25A203Sep 19, 2018
SLC25A2223Sep 19, 2018
SLC25A352Sep 19, 2018
SLC25A381Sep 19, 2018
SLC25A462Sep 19, 2018
SLC26A121Sep 19, 2018
SLC26A220Sep 19, 2018
SLC26A443Sep 19, 2018
SLC26A4-AS14Sep 19, 2018
SLC26A514Sep 19, 2018
SLC26A5-AS142Sep 19, 2018
SLC27A5108Sep 19, 2018
SLC29A312Sep 19, 2018
SLC2A156Sep 19, 2018
SLC2A106Sep 19, 2018
SLC2A22Sep 19, 2018
SLC2A93Sep 19, 2018
SLC30A102Sep 19, 2018
SLC34A347Sep 19, 2018
SLC35A15Sep 19, 2018
SLC35A21Sep 19, 2018
SLC35A31Sep 19, 2018
SLC35C15Sep 19, 2018
SLC35D14Sep 19, 2018
SLC37A417Sep 19, 2018
SLC38A82Sep 19, 2018
SLC39A1311Sep 19, 2018
SLC39A81Sep 19, 2018
SLC3A13Sep 19, 2018
SLC45A213Sep 19, 2018
SLC46A14Sep 19, 2018
SLC4A111Sep 19, 2018
SLC52A22Sep 19, 2018
SLC5A13Sep 19, 2018
SLC5A91Sep 19, 2018
SLC6A11Sep 19, 2018
SLC6A192Sep 19, 2018
SLC6A310Sep 19, 2018
SLC6A82Sep 19, 2018
SLC6A91Sep 19, 2018
SLC7A21Sep 19, 2018
SLC7A92Nov 3, 2016
SLC9A623Sep 19, 2018
SLC9A91Sep 19, 2018
SLCO1B11Sep 19, 2018
SLITRK62Sep 19, 2018
SLURP11Sep 19, 2018
SLX42Sep 19, 2018
SMAD310Sep 19, 2018
SMAD410Sep 19, 2018
SMAD61Sep 19, 2018
SMAD91Sep 19, 2018
SMARCA45Sep 19, 2018
SMARCAL137Sep 19, 2018
SMARCB19Sep 19, 2018
SMC1A17Sep 19, 2018
SMC312Sep 19, 2018
SMCHD1223Sep 19, 2018
SMOC18Sep 19, 2018
SMPD1150Sep 19, 2018
SMS6Sep 19, 2018
SNAP291Sep 19, 2018
SND11Sep 19, 2018
SNHG1433Sep 19, 2018
SNHG221Sep 19, 2018
SNRNP20020Sep 19, 2018
SNRPB1Sep 19, 2018
SNTA11Sep 19, 2018
SNX141Sep 19, 2018
SNX221Sep 19, 2018
SOBP1Sep 19, 2018
SOD12Sep 19, 2018
SON3Sep 19, 2018
SOS136Sep 19, 2018
SOST3Sep 19, 2018
SOX106Sep 19, 2018
SOX212Sep 19, 2018
SOX2-OT12Sep 19, 2018
SOX317Sep 19, 2018
SOX922Sep 19, 2018
SP79Sep 19, 2018
SPAG82Sep 19, 2018
SPARC1Sep 19, 2018
SPART3Sep 19, 2018
SPAST5Sep 19, 2018
SPATA226Sep 19, 2018
SPATA51Sep 19, 2018
SPATA713Sep 19, 2018
SPECC1L1Sep 19, 2018
SPECC1L-ADORA2A1Sep 19, 2018
SPEG10Sep 19, 2018
SPG1119Sep 19, 2018
SPG211Sep 19, 2018
SPG714Sep 19, 2018
SPINK55Sep 19, 2018
SPR3Sep 19, 2018
SPRED18Sep 19, 2018
SPRY41Sep 19, 2018
SPTAN155Sep 19, 2018
SPTB2Sep 19, 2018
SPTBN219Sep 19, 2018
SPTLC12Sep 19, 2018
SPTLC21Sep 19, 2018
SRCAP55Sep 19, 2018
SRD5A22Sep 19, 2018
SRD5A35Sep 19, 2018
SRD5A3-AS11Sep 19, 2018
SRP541Sep 19, 2018
SRPX215Sep 19, 2018
SSUH210Sep 19, 2018
ST3GAL315Sep 19, 2018
ST3GAL41Sep 19, 2018
ST3GAL512Sep 19, 2018
STAMBP2Sep 19, 2018
STAT11Sep 19, 2018
STAT5B10Sep 19, 2018
STIL31Sep 19, 2018
STK1117Sep 19, 2018
STK391Sep 19, 2018
STK41Sep 19, 2018
STON1-GTF2A1L3Sep 19, 2018
STRA613Sep 19, 2018
STRC2Sep 19, 2018
STT3B1Sep 19, 2018
STX111Sep 19, 2018
STXBP124Sep 19, 2018
STXBP216Sep 19, 2018
STXBP5L1Sep 19, 2018
SUCLA24Sep 19, 2018
SUFU2Sep 19, 2018
SULF112Sep 19, 2018
SUMF16Sep 19, 2018
SUOX3Sep 19, 2018
SURF11Sep 19, 2018
SYCE22Sep 19, 2018
SYN115Sep 19, 2018
SYN35Sep 19, 2018
SYNE11170Sep 19, 2018
SYNE1-AS119Sep 19, 2018
SYNE2218Sep 19, 2018
SYNE412Sep 19, 2018
SYP4Sep 19, 2018
SZT23Sep 19, 2018
TAB21Sep 19, 2018
TACR31Sep 19, 2018
TAF14Sep 19, 2018
TAF21Sep 19, 2018
TAF62Sep 19, 2018
TAFAZZIN2Sep 19, 2018
TAPBPL1Sep 19, 2018
TARID1Sep 19, 2018
TBC1D11Sep 19, 2018
TBC1D201Sep 19, 2018
TBC1D231Sep 19, 2018
TBC1D2433Sep 19, 2018
TBC1D71Sep 19, 2018
TBC1D7-LOC1001303571Sep 19, 2018
TBCE20Sep 19, 2018
TBCEL-TECTA45Sep 19, 2018
TBCK2Sep 19, 2018
TBL1X1Sep 19, 2018
TBX14Sep 19, 2018
TBX159Sep 19, 2018
TBX39Sep 19, 2018
TBX511Sep 19, 2018
TBX68Sep 19, 2018
TBXAS120Sep 19, 2018
TCAP33Sep 19, 2018
TCF425Sep 19, 2018
TCF4-AS12Sep 19, 2018
TCIRG133Sep 19, 2018
TCN21Sep 19, 2018
TCOF116Sep 19, 2018
TCTN111Sep 19, 2018
TCTN212Sep 19, 2018
TCTN35Sep 19, 2018
TDP13Sep 19, 2018
TDP21Sep 19, 2018
TECPR21Sep 19, 2018
TECTA45Sep 19, 2018
TEK1Sep 19, 2018
TELO21Sep 19, 2018
TERT9Sep 19, 2018
TEX221Sep 19, 2018
TFR22Sep 19, 2018
TG3Sep 19, 2018
TGFB14Sep 19, 2018
TGFB26Sep 19, 2018
TGFBR19Sep 19, 2018
TGFBR25Sep 19, 2018
TGIF11Sep 19, 2018
TGM12Sep 19, 2018
TH9Sep 19, 2018
TH2-LCR1Sep 19, 2018
TH2LCRR2Sep 19, 2018
THAP11Sep 19, 2018
THPO7Sep 19, 2018
THRB7Sep 19, 2018
TIGD15Sep 19, 2018
TIMM8A1Sep 19, 2018
TIMP35Sep 19, 2018
TINF21Sep 19, 2018
TJP2185Sep 19, 2018
TK22Sep 19, 2018
TLDC21Sep 19, 2018
TMC114Sep 19, 2018
TMEM126A7Sep 19, 2018
TMEM1271Sep 19, 2018
TMEM132E8Sep 19, 2018
TMEM1381Sep 19, 2018
TMEM1653Sep 19, 2018
TMEM21626Sep 19, 2018
TMEM23111Sep 19, 2018
TMEM23711Sep 19, 2018
TMEM2401Sep 19, 2018
TMEM432Sep 19, 2018
TMEM6725Sep 19, 2018
TMEM702Sep 19, 2018
TMIE5Sep 19, 2018
TMPPE6Sep 19, 2018
TMPRSS316Sep 19, 2018
TNC1Sep 19, 2018
TNFRSF11A21Sep 19, 2018
TNFRSF11B11Sep 19, 2018
TNFRSF13B2Sep 19, 2018
TNFRSF1A1Sep 19, 2018
TNFSF1110Sep 19, 2018
TNNC11Sep 19, 2018
TNNI210Sep 19, 2018
TNNI38Sep 19, 2018
TNNT17Sep 19, 2018
TNNT24Sep 19, 2018
TNPO379Sep 19, 2018
TNXB6Sep 19, 2018
TOMM40L5Sep 19, 2018
TOMT5Sep 19, 2018
TOPORS29Sep 19, 2018
TOR1A3Sep 19, 2018
TP5316Sep 19, 2018
TP53BP11Sep 19, 2018
TP6314Sep 19, 2018
TPK12Sep 19, 2018
TPM11Sep 19, 2018
TPM216Sep 19, 2018
TPM34Sep 19, 2018
TPMT2Sep 19, 2018
TPO1Sep 19, 2018
TPP130Sep 19, 2018
TPRN14Sep 19, 2018
TRAPPC112Sep 19, 2018
TRAPPC2L1Sep 19, 2018
TRAPPC92Sep 19, 2018
TRB2Sep 19, 2018
TRDN3Sep 19, 2018
TREM215Sep 19, 2018
TREX16Sep 19, 2018
TRIM3297Sep 19, 2018
TRIM3714Sep 19, 2018
TRIM59-IFT8017Sep 19, 2018
TRIO7Sep 19, 2018
TRIOBP61Sep 19, 2018
TRIP1132Sep 19, 2018
TRIP121Sep 19, 2018
TRMT10A1Sep 19, 2018
TRMU67Sep 19, 2018
TRNT11Sep 19, 2018
TRPC62Sep 19, 2018
TRPM133Sep 19, 2018
TRPM21Sep 19, 2018
TRPM2-AS1Sep 19, 2018
TRPM42Sep 19, 2018
TRPS114Sep 19, 2018
TRPV31Sep 19, 2018
TRPV424Sep 19, 2018
TSC155Sep 19, 2018
TSC2123Sep 19, 2018
TSEN28Sep 19, 2018
TSEN344Sep 19, 2018
TSEN5437Sep 19, 2018
TSHR1Sep 19, 2018
TSPAN189Sep 19, 2018
TSPAN122Sep 19, 2018
TSPAN71Sep 19, 2018
TSPEAR12Sep 19, 2018
TSPEAR-AS11Sep 19, 2018
TSR25Sep 19, 2018
TTBK23Sep 19, 2018
TTC142Sep 19, 2018
TTC195Sep 19, 2018
TTC21B19Sep 19, 2018
TTC21B-AS13Sep 19, 2018
TTC3727Sep 19, 2018
TTC7A3Sep 19, 2018
TTC86Sep 19, 2018
TTI21Sep 19, 2018
TTLL53Sep 19, 2018
TTN3351Sep 19, 2018
TTN-AS11871Sep 19, 2018
TTPA7Sep 19, 2018
TTR7Sep 19, 2018
TUBA1A5Sep 19, 2018
TUBA84Sep 19, 2018
TUBB1Sep 19, 2018
TUBB2B2Sep 19, 2018
TUBB37Sep 19, 2018
TUBB4A1Sep 19, 2018
TUBGCP42Sep 19, 2018
TULP122Sep 19, 2018
TUSC310Sep 19, 2018
TWIST11Sep 19, 2018
TWNK8Sep 19, 2018
TYK22Sep 19, 2018
TYMP4Sep 19, 2018
TYR31Sep 19, 2018
TYROBP3Sep 19, 2018
TYRP19Sep 19, 2018
UACA1Sep 19, 2018
UBA11Sep 19, 2018
UBA51Sep 19, 2018
UBE2A1Sep 19, 2018
UBE3A33Sep 19, 2018
UBQLN21Sep 19, 2018
UBR11Sep 19, 2018
UGT1A76Sep 19, 2018
UGT1A176Sep 19, 2018
UGT1A1076Sep 19, 2018
UGT1A376Sep 19, 2018
UGT1A476Sep 19, 2018
UGT1A576Sep 19, 2018
UGT1A676Sep 19, 2018
UGT1A776Sep 19, 2018
UGT1A876Sep 19, 2018
UGT1A976Sep 19, 2018
UMOD15Sep 19, 2018
UMPS1Sep 19, 2018
UNC1193Sep 19, 2018
UNC13D5Sep 19, 2018
UNC809Sep 19, 2018
UPB11Sep 19, 2018
UPF3B5Sep 19, 2018
UQCRB2Sep 19, 2018
UROC11Sep 19, 2018
UROS1Sep 19, 2018
USH1C39Sep 19, 2018
USH1G12Sep 19, 2018
USH2A268Sep 19, 2018
USH2A-AS118Sep 19, 2018
USH2A-AS215Sep 19, 2018
USP9X1Sep 19, 2018
UTP14C3Sep 19, 2018
VAMP11Sep 19, 2018
VANGL13Sep 19, 2018
VARS22Sep 19, 2018
VAX16Sep 19, 2018
VCAN33Sep 19, 2018
VCAN-AS127Sep 19, 2018
VCL10Sep 19, 2018
VCP34Sep 19, 2018
VCX3A1Sep 19, 2018
VEGFA1Sep 19, 2018
VHL16Sep 19, 2018
VIM1Sep 19, 2018
VIPAS3959Sep 19, 2018
VKORC12Sep 19, 2018
VLDLR9Sep 19, 2018
VLDLR-AS14Sep 19, 2018
VPS13B150Sep 19, 2018
VPS33B62Sep 19, 2018
VPS37A6Sep 19, 2018
VRK16Sep 19, 2018
VRK21Nov 3, 2016
VSX213Sep 19, 2018
VWF23Sep 19, 2018
WAS4Sep 19, 2018
WASHC41Sep 19, 2018
WASHC58Sep 19, 2018
WASHC5-AS12Sep 19, 2018
WDPCP10Sep 19, 2018
WDR111Sep 19, 2018
WDR1914Sep 19, 2018
WDR261Sep 19, 2018
WDR3535Sep 19, 2018
WDR454Sep 19, 2018
WDR6280Sep 19, 2018
WDR734Sep 19, 2018
WDR813Sep 19, 2018
WDR871Sep 19, 2018
WDR931Sep 19, 2018
WFS195Sep 19, 2018
WHRN39Sep 19, 2018
WIPF11Sep 19, 2018
WNK120Sep 19, 2018
WNK41Sep 19, 2018
WNT10A1Sep 19, 2018
WNT34Sep 19, 2018
WNT5A10Sep 19, 2018
WNT7A9Sep 19, 2018
WRN37Sep 19, 2018
WT18Sep 19, 2018
WWOX2Sep 19, 2018
XIAP4Sep 19, 2018
XPNPEP32Sep 19, 2018
XRCC22Sep 19, 2018
XRCC41Sep 19, 2018
XYLT12Sep 19, 2018
YARS14Sep 19, 2018
YARS21Sep 19, 2018
ZAP703Sep 19, 2018
ZBTB242Sep 19, 2018
ZC3H141Sep 19, 2018
ZCCHC121Sep 19, 2018
ZDHHC153Sep 19, 2018
ZDHHC2417Sep 19, 2018
ZDHHC92Sep 19, 2018
ZEB11Sep 19, 2018
ZEB271Sep 19, 2018
ZFPM21Sep 19, 2018
ZFPM2-AS11Sep 19, 2018
ZFYVE2626Sep 19, 2018
ZFYVE276Sep 19, 2018
ZIC27Sep 19, 2018
ZIC36Sep 19, 2018
ZMPSTE247Sep 19, 2018
ZMYM34Sep 19, 2018
ZNF2761Sep 19, 2018
ZNF3356Sep 19, 2018
ZNF4071Sep 19, 2018
ZNF4081Sep 19, 2018
ZNF414Sep 19, 2018
ZNF4201Sep 19, 2018
ZNF42321Sep 19, 2018
ZNF4621Sep 19, 2018
ZNF46964Sep 19, 2018
ZNF5137Sep 19, 2018
ZNF6273Sep 19, 2018
ZNF6742Sep 19, 2018
ZNF7111Jun 9, 2015
ZNF811Sep 19, 2018
ZSWIM72Sep 19, 2018

Condition

NameSubmissionsLast Updated
not provided34030Sep 19, 2018
not specified10998Sep 19, 2018

Testing in GTR

Disease nameNumber of tests
3 Methylcrotonyl-CoA carboxylase 1 deficiency4 tests
3-Methylglutaconic aciduria type 12 tests
3-Methylglutaconic aciduria type 27 tests
3-Methylglutaconic aciduria type 37 tests
3-methylcrotonyl CoA carboxylase 2 deficiency4 tests
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome2 tests
3MC syndrome 12 tests
46,XY sex reversal, type 22 tests
46,XY sex reversal, type 32 tests
ADULT syndrome3 tests
AIP-Related Familial Isolated Pituitary Adenomas1 test
AKT2-related familial partial lipodystrophy2 tests
ALG1-CDG1 test
ALG12-congenital disorder of glycosylation4 tests
ALG2-CDG4 tests
ALG3-CDG4 tests
ALG8-CDG4 tests
ALG9 congenital disorder of glycosylation4 tests
Aarskog syndrome6 tests
Abetalipoproteinaemia4 tests
Abnormality of mitochondrial metabolism1 test
Acheiropodia3 tests
Achondrogenesis type II10 tests
Achondrogenesis, type IA3 tests
Achondrogenesis, type IB5 tests
Achondroplasia7 tests
Achromatopsia1 test
Achromatopsia 26 tests
Achromatopsia 39 tests
Achromatopsia 46 tests
Achromatopsia 62 tests
Acquired hemoglobin H disease5 tests
Acrocallosal syndrome12 tests
Acrocapitofemoral dysplasia5 tests
Acrocephalosyndactyly type I5 tests
Acrodysostosis4 tests
Acrodysostosis 1 with or without hormone resistance1 test
Acromesomelic dysplasia, Demirhan type5 tests
Acromesomelic dysplasia, Hunter-Thompson type5 tests
Acromesomelic dysplasia, Maroteaux type3 tests
Acromicric dysplasia9 tests
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins1 test
Acute lymphoid leukemia2 tests
Acute myeloid leukemia7 tests
Acyl-CoA dehydrogenase family, member 9, deficiency of3 tests
Adams-Oliver syndrome 13 tests
Adenylosuccinate lyase deficiency5 tests
Adrenocortical carcinoma, hereditary2 tests
Adrenoleukodystrophy2 tests
Adult hypophosphatasia3 tests
Adult neuronal ceroid lipofuscinosis9 tests
Adult polyglucosan body disease7 tests
Advanced maternal age gravida5 tests
Age-related macular degeneration 29 tests
Age-related macular degeneration 35 tests
Age-related macular degeneration 64 tests
Agenesis of the corpus callosum with peripheral neuropathy3 tests
Aicardi Goutieres syndrome 11 test
Aicardi Goutieres syndrome 21 test
Aicardi Goutieres syndrome 31 test
Aicardi Goutieres syndrome 48 tests
Aicardi Goutieres syndrome 51 test
Aicardi syndrome1 test
Alacrima, achalasia, and mental retardation syndrome1 test
Alagille syndrome 11 test
Alagille syndrome 23 tests
Albinism1 test
Albinism, ocular, with sensorineural deafness4 tests
Albinism, oculocutaneous, type VI3 tests
Albinism, oculocutaneous, type VII3 tests
Allan-Herndon-Dudley syndrome3 tests
Alpha mannosidosis type II1 test
Alpha thalassemia-X-linked intellectual disability syndrome7 tests
Alpha-1-antitrypsin deficiency4 tests
Alpha-B crystallinopathy4 tests
Alpha-N-acetylgalactosaminidase deficiency type 15 tests
Alpha-N-acetylgalactosaminidase deficiency type 25 tests
Alpha-methylacyl-CoA racemase deficiency1 test
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity1 test
Alport syndrome1 test
Alport syndrome 1, X-linked recessive2 tests
Alstrom syndrome6 tests
Alternating hemiplegia of childhood3 tests
Alternating hemiplegia of childhood 11 test
Alternating hemiplegia of childhood 21 test
Alzheimer disease, familial, 3, with spastic paraparesis and apraxia1 test
Ambiguous genitalia2 tests
Amelogenesis imperfecta, type IV2 tests
Aminoglycoside-induced deafness1 test
Amish lethal microcephaly3 tests
Amyloidogenic transthyretin amyloidosis5 tests
Amyotrophic lateral sclerosis1 test
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia1 test
Andersen Tawil syndrome5 tests
Anemia, nonspherocytic hemolytic, due to G6PD deficiency9 tests
Angelman syndrome11 tests
Angelman syndrome-like2 tests
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps4 tests
Aniridia 16 tests
Anophthalmia/microphthalmia-esophageal atresia syndrome5 tests
Anterior segment dysgenesis 14 tests
Anterior segment dysgenesis 36 tests
Anterior segment dysgenesis 47 tests
Antley-Bixler syndrome2 tests
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis2 tests
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis3 tests
Aortic aneurysm2 tests
Aortic aneurysm, familial thoracic 42 tests
Aortic aneurysm, familial thoracic 64 tests
Aortic aneurysm, familial thoracic 74 tests
Aortic valve disease 12 tests
Aplastic anemia7 tests
Arginine:glycine amidinotransferase deficiency3 tests
Argininosuccinate lyase deficiency4 tests
Aromatase deficiency2 tests
Aromatase excess syndrome2 tests
Arrhythmogenic right ventricular cardiomyopathy2 tests
Arrhythmogenic right ventricular cardiomyopathy, type 106 tests
Arrhythmogenic right ventricular cardiomyopathy, type 116 tests
Arrhythmogenic right ventricular cardiomyopathy, type 126 tests
Arrhythmogenic right ventricular cardiomyopathy, type 56 tests
Arrhythmogenic right ventricular dysplasia 86 tests
Arrhythmogenic right ventricular dysplasia 96 tests
Arrhythmogenic right ventricular dysplasia, familial, 133 tests
Arrhythmogenic right ventricular dysplasia, familial, 212 tests
Arterial calcification, generalized, of infancy, 12 tests
Arterial tortuosity syndrome6 tests
Arthrogryposis, renal dysfunction, and cholestasis 11 test
Arthrogryposis, renal dysfunction, and cholestasis 21 test
Arthropathy, erosive1 test
Arts syndrome7 tests
Aspartylglucosaminuria7 tests
Asperger syndrome X-linked 13 tests
Asphyxiating thoracic dystrophy 25 tests
Asphyxiating thoracic dystrophy 46 tests
Asphyxiating thoracic dystrophy 52 tests
Asthma, nasal polyps, and aspirin intolerance3 tests
Ataxia-hypogonadism-choroidal dystrophy syndrome2 tests
Ataxia-oculomotor apraxia type 12 tests
Ataxia-telangiectasia syndrome12 tests
Ataxia-telangiectasia-like disorder 16 tests
Ateleiotic dwarfism1 test
Atelosteogenesis type 13 tests
Atelosteogenesis type II4 tests
Atelosteogenesis type III3 tests
Atrial fibrillation, familial, 1011 tests
Atrial fibrillation, familial, 112 tests
Atrial fibrillation, familial, 122 tests
Atrial fibrillation, familial, 137 tests
Atrial fibrillation, familial, 37 tests
Atrial fibrillation, familial, 45 tests
Atrial fibrillation, familial, 62 tests
Atrial fibrillation, familial, 72 tests
Atrial fibrillation, familial, 95 tests
Atrial septal defect2 tests
Atrial septal defect 32 tests
Atrial septal defect 55 tests
Atrial septal defect 7 with or without atrioventricular conduction defects5 tests
Atrial septal defect 92 tests
Atrioventricular septal defect 21 test
Atrioventricular septal defect 52 tests
Atrophia bulborum hereditaria8 tests
Attenuated familial adenomatous polyposis2 tests
Atypical mycobacteriosis, familial, X-linked 22 tests
Autism spectrum disorder7 tests
Autism, susceptibility to, 182 tests
Autism, susceptibility to, X-linked 13 tests
Autism, susceptibility to, X-linked 25 tests
Autism, susceptibility to, X-linked 34 tests
Autism, susceptibility to, X-linked 45 tests
Autism, susceptibility to, X-linked 53 tests
Autoimmune lymphoproliferative syndrome, type III1 test
Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia1 test
Autoinflammation with infantile enterocolitis1 test
Autosomal dominant hypophosphatemic rickets2 tests
Autosomal dominant isolated somatotropin deficiency1 test
Autosomal dominant medullary cystic kidney disease with hyperuricemia4 tests
Autosomal dominant nonsyndromic deafness 172 tests
Autosomal dominant nonsyndromic deafness 222 tests
Autosomal dominant nonsyndromic deafness 2A2 tests
Autosomal dominant nonsyndromic deafness 64 tests
Autosomal dominant optic atrophy classic form5 tests
Autosomal dominant osteopetrosis 16 tests
Autosomal dominant osteopetrosis 22 tests
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 17 tests
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 32 tests
Autosomal hypohidrotic ectodermal dysplasia1 test
Autosomal recessive DOPA responsive dystonia2 tests
Autosomal recessive Kenny-Caffey syndrome4 tests
Autosomal recessive cutis laxa type 1B3 tests
Autosomal recessive cutis laxa type 2B2 tests
Autosomal recessive cutis laxa type 3B2 tests
Autosomal recessive cutis laxa type IA5 tests
Autosomal recessive hypophosphatemic bone disease2 tests
Autosomal recessive hypophosphatemic vitamin D refractory rickets2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2B7 tests
Autosomal recessive limb-girdle muscular dystrophy type 2D9 tests
Autosomal recessive limb-girdle muscular dystrophy type 2E9 tests
Autosomal recessive limb-girdle muscular dystrophy type 2F13 tests
Autosomal recessive limb-girdle muscular dystrophy type 2G13 tests
Autosomal recessive multiple pterygium syndrome2 tests
Autosomal recessive omodysplasia3 tests
Autosomal recessive osteopetrosis 12 tests
Autosomal recessive osteopetrosis 22 tests
Autosomal recessive osteopetrosis 42 tests
Autosomal recessive osteopetrosis 73 tests
Autosomal recessive polycystic kidney disease5 tests
Autosomal recessive pseudohypoaldosteronism type 14 tests
Avascular necrosis of the head of femur10 tests
Axenfeld-Rieger syndrome type 17 tests
Axenfeld-Rieger syndrome type 36 tests
Azoospermia2 tests
B4GALT1-CDG4 tests
BNAR syndrome4 tests
Baller-Gerold syndrome5 tests
Bamforth-Lazarus syndrome2 tests
Bannayan-Riley-Ruvalcaba syndrome12 tests
Baraitser-Winter Syndrome 25 tests
Baraitser-Winter syndrome 14 tests
Bardet-Biedl syndrome28 tests
Bardet-Biedl syndrome 11 test
Bardet-Biedl syndrome 101 test
Bartter disease type 4a2 tests
Basal cell carcinoma, susceptibility to, 18 tests
Basal cell carcinoma, susceptibility to, 72 tests
Beare-Stevenson cutis gyrata syndrome5 tests
Becker muscular dystrophy10 tests
Beckwith-Wiedemann syndrome14 tests
Behavior disorder2 tests
Benign familial neonatal seizures 13 tests
Benign familial neonatal seizures 23 tests
Benign recurrent intrahepatic cholestasis type 21 test
Bent bone dysplasia syndrome5 tests
Bernard Soulier syndrome1 test
Bestrophinopathy, autosomal recessive7 tests
Beta-A-mannosidosis1 test
Beta-D-mannosidosis8 tests
Bethlem myopathy 115 tests
Bietti crystalline corneoretinal dystrophy3 tests
Bifunctional peroxisomal enzyme deficiency2 tests
Bilateral right-sidedness sequence1 test
Bile acid malabsorption, primary1 test
Bile acid synthesis defect, congenital, 31 test
Bilirubin, serum level of, quantitative trait locus 11 test
Biotin-Responsive Multiple Carboxylase Deficiencies1 test
Biotin-responsive basal ganglia disease4 tests
Biotinidase deficiency7 tests
Bloom syndrome14 tests
Bone mineral density quantitative trait locus 16 tests
Boomerang dysplasia3 tests
Borjeson-Forssman-Lehmann syndrome11 tests
Bothnia retinal dystrophy5 tests
Brachydactyly type A15 tests
Brachydactyly type A25 tests
Brachydactyly type B16 tests
Brachydactyly type B23 tests
Brachydactyly type C5 tests
Brachydactyly type D3 tests
Brachydactyly type E13 tests
Brachydactyly type E23 tests
Brachydactyly, type a1, c5 tests
Brachydactyly-syndactyly syndrome3 tests
Brachyrachia (short spine dysplasia)5 tests
Bradyopsia5 tests
Brain small vessel disease 1 with or without ocular anomalies4 tests
Brain small vessel disease with hemorrhage4 tests
Brain tumor-polyposis syndrome 24 tests
Branched-chain keto acid dehydrogenase kinase deficiency5 tests
Branchiootic syndrome 12 tests
Branchiootic syndrome 32 tests
Branchiootorenal Syndrome 12 tests
Branchiootorenal syndrome 21 test
Breast and colorectal cancer, susceptibility to2 tests
Breast cancer, early-onset1 test
Breast cancer, familial male1 test
Breast cancer, lobular1 test
Breast cancer, susceptibility to8 tests
Breast-ovarian cancer, familial 18 tests
Breast-ovarian cancer, familial 29 tests
Breast-ovarian cancer, familial 42 tests
Brittle cornea syndrome 12 tests
Brittle cornea syndrome 22 tests
Brody myopathy1 test
Bronchiectasis with or without elevated sweat chloride 16 tests
Bronchiectasis with or without elevated sweat chloride 24 tests
Bronchiectasis with or without elevated sweat chloride 34 tests
Bruck syndrome 22 tests
Brugada syndrome2 tests
Brugada syndrome 111 tests
Brugada syndrome 24 tests
Brugada syndrome 310 tests
Brugada syndrome 44 tests
Brugada syndrome 57 tests
Brugada syndrome 64 tests
Brugada syndrome 74 tests
Brugada syndrome 86 tests
Brugada syndrome 92 tests
Brunner syndrome3 tests
CHARGE association8 tests
CHIME syndrome2 tests
CK syndrome3 tests
COG1 congenital disorder of glycosylation4 tests
COG7 congenital disorder of glycosylation4 tests
Camptodactyly-tall stature-scoliosis-hearing loss syndrome7 tests
Camptomelic dysplasia5 tests
Cancer of cervix5 tests
Capillary malformation-arteriovenous malformation 13 tests
Carcinoid tumor of intestine4 tests
Carcinoma of colon13 tests
Carcinoma of pancreas3 tests
Cardiac arrhythmia4 tests
Cardiac arrhythmia, ankyrin B-related5 tests
Cardiac valvular dysplasia, X-linked11 tests
Cardio-facio-cutaneous syndrome1 test
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency2 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 22 tests
Cardiofaciocutaneous syndrome 114 tests
Cardiofaciocutaneous syndrome 24 tests
Cardiofaciocutaneous syndrome 33 tests
Cardiofaciocutaneous syndrome 43 tests
Cardiomyopathy2 tests
Cardiomyopathy, dilated, 2b2 tests
Carney complex, type 15 tests
Carney-Stratakis syndrome5 tests
Carnitine acylcarnitine translocase deficiency4 tests
Carnitine deficiency, myopathic1 test
Carnitine palmitoyltransferase 1A deficiency5 tests
Carnitine palmitoyltransferase I deficiency , muscle1 test
Carnitine palmitoyltransferase II deficiency3 tests
Carnitine palmitoyltransferase II deficiency, infantile3 tests
Carnitine palmitoyltransferase II deficiency, lethal neonatal2 tests
Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced1 test
Carotid intimal medial thickness 12 tests
Carpal tunnel syndrome5 tests
Cataract 114 tests
Cataract 16, multiple types4 tests
Cataract 403 tests
Cataract 414 tests
Cataract-intellectual disability-hypogonadism syndrome3 tests
Catecholaminergic polymorphic ventricular tachycardia type 112 tests
Cellular mosaicism2 tests
Cenani-Lenz syndactyly syndrome4 tests
Central core myopathy3 tests
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant4 tests
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 17 tests
Cerebral cavernous malformations 12 tests
Cerebral cavernous malformations 22 tests
Cerebral cavernous malformations 32 tests
Cerebral creatine deficiency syndrome1 test
Cerebral folate transport deficiency7 tests
Cerebrooculofacioskeletal syndrome 11 test
Cerebrooculonasal syndrome1 test
Ceroid lipofuscinosis neuronal 210 tests
Ceroid lipofuscinosis, neuronal, 115 tests
Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant9 tests
Charcot-Marie-Tooth Neuropathy X Type 12 tests
Charcot-Marie-Tooth disease3 tests
Charcot-Marie-Tooth disease and deafness2 tests
Charcot-Marie-Tooth disease axonal type 2C3 tests
Charcot-Marie-Tooth disease axonal type 2F2 tests
Charcot-Marie-Tooth disease axonal type 2K2 tests
Charcot-Marie-Tooth disease dominant intermediate d2 tests
Charcot-Marie-Tooth disease type 2B2 tests
Charcot-Marie-Tooth disease type 2B113 tests
Charcot-Marie-Tooth disease type 2D2 tests
Charcot-Marie-Tooth disease type 2E2 tests
Charcot-Marie-Tooth disease type 2I2 tests
Charcot-Marie-Tooth disease type 2J2 tests
Charcot-Marie-Tooth disease, X-linked recessive, type 57 tests
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive2 tests
Charcot-Marie-Tooth disease, demyelinating, type 1b2 tests
Charcot-Marie-Tooth disease, demyelinating, type 1d2 tests
Charcot-Marie-Tooth disease, demyelinating, type 1f2 tests
Charcot-Marie-Tooth disease, demyelinating, type 4F2 tests
Charcot-Marie-Tooth disease, dominant intermediate B4 tests
Charcot-Marie-Tooth disease, dominant intermediate C2 tests
Charcot-Marie-Tooth disease, recessive intermediate A2 tests
Charcot-Marie-Tooth disease, recessive intermediate c4 tests
Charcot-Marie-Tooth disease, type 1C2 tests
Charcot-Marie-Tooth disease, type 2A12 tests
Charcot-Marie-Tooth disease, type 2A2A3 tests
Charcot-Marie-Tooth disease, type 2L2 tests
Charcot-Marie-Tooth disease, type 2N2 tests
Charcot-Marie-Tooth disease, type 4A2 tests
Charcot-Marie-Tooth disease, type 4B12 tests
Charcot-Marie-Tooth disease, type 4B22 tests
Charcot-Marie-Tooth disease, type 4C2 tests
Charcot-Marie-Tooth disease, type 4D2 tests
Charcot-Marie-Tooth disease, type 4H2 tests
Charcot-Marie-Tooth disease, type 4J2 tests
Charcot-Marie-Tooth disease, type IA2 tests
Charlevoix-Saguenay spastic ataxia3 tests
Child syndrome1 test
Childhood hypophosphatasia2 tests
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia9 tests
Cholestanol storage disease4 tests
Cholestasis of pregnancy1 test
Cholestasis, benign recurrent intrahepatic 11 test
Cholestasis, intrahepatic, of pregnancy 31 test
Cholestasis, progressive familial intrahepatic 11 test
Chondrocalcinosis 25 tests
Chondrodysplasia Blomstrand type3 tests
Chondrodysplasia punctata 2 X-linked dominant1 test
Chondrosarcoma5 tests
Choreoathetosis1 test
Choreoathetosis, hypothyroidism, and neonatal respiratory distress1 test
Choroid plexus papilloma2 tests
Choroidal dystrophy, central areolar 29 tests
Choroideremia6 tests
Christianson syndrome8 tests
Chromosome 1q41-q42 deletion syndrome1 test
Chromosome 22q deletion1 test
Chromosome 2q37 deletion syndrome3 tests
Chromosome 7q11.23 deletion syndrome, distal, 1.2-mb3 tests
Chronic granulomatous disease, X-linked2 tests
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 22 tests
Chronic infantile neurological, cutaneous and articular syndrome2 tests
Chronic obstructive pulmonary disease1 test
Chudley-McCullough syndrome2 tests
Chédiak-Higashi syndrome2 tests
Ciliary dyskinesia, primary, 105 tests
Ciliary dyskinesia, primary, 115 tests
Ciliary dyskinesia, primary, 125 tests
Ciliary dyskinesia, primary, 135 tests
Ciliary dyskinesia, primary, 145 tests
Ciliary dyskinesia, primary, 155 tests
Ciliary dyskinesia, primary, 165 tests
Ciliary dyskinesia, primary, 21 test
Ciliary dyskinesia, primary, 35 tests
Ciliary dyskinesia, primary, 65 tests
Ciliary dyskinesia, primary, 75 tests
Ciliary dyskinesia, primary, 95 tests
Citrullinemia type I4 tests
Citrullinemia type II2 tests
Classic homocystinuria10 tests
Classical galactosemia, homozygous Duarte-type3 tests
Classical maple syrup urine disease1 test
Cleidocranial dysostosis3 tests
Clubfoot3 tests
Cobalamin C disease5 tests
Cobalamin deficiency2 tests
Cockayne syndrome B1 test
Cockayne syndrome type A1 test
Coenzyme Q10 deficiency, primary, 42 tests
Coffin-Lowry syndrome6 tests
Cognitive impairment with or without cerebellar ataxia3 tests
Cohen syndrome6 tests
Cole disease2 tests
Coloboma of optic nerve (disease)6 tests
Colorectal adenoma6 tests
Colorectal cancer 102 tests
Colorectal cancer 22 tests
Colorectal cancer 45 tests
Colorectal cancer 58 tests
Colorectal cancer 84 tests
Combined cellular and humoral immune defects with granulomas1 test
Combined deficiency of sialidase AND beta galactosidase5 tests
Combined immunodeficiency due to ORAI1 deficiency1 test
Combined immunodeficiency due to STIM1 deficiency2 tests
Combined immunodeficiency due to ZAP70 deficiency2 tests
Combined immunodeficiency, X-linked1 test
Combined malonic and methylmalonic aciduria1 test
Combined oxidative phosphorylation deficiency 121 test
Combined oxidative phosphorylation deficiency 131 test
Combined saposin deficiency4 tests
Common variable immunodeficiency 12 tests
Common variable immunodeficiency 8, with autoimmunity2 tests
Complete trisomy 13 syndrome2 tests
Complete trisomy 18 syndrome2 tests
Complete trisomy 21 syndrome2 tests
Cone dystrophy 34 tests
Cone dystrophy 46 tests
Cone dystrophy with supernormal rod response5 tests
Cone-rod dystrophy1 test
Cone-rod dystrophy 105 tests
Cone-rod dystrophy 114 tests
Cone-rod dystrophy 127 tests
Cone-rod dystrophy 1311 tests
Cone-rod dystrophy 154 tests
Cone-rod dystrophy 165 tests
Cone-rod dystrophy 29 tests
Cone-rod dystrophy 310 tests
Cone-rod dystrophy 54 tests
Cone-rod dystrophy 69 tests
Cone-rod dystrophy 74 tests
Cone-rod dystrophy 95 tests
Cone-rod dystrophy, X-linked 111 tests
Congenital absence of salivary gland3 tests
Congenital adrenal hyperplasia1 test
Congenital adrenal hypoplasia, X-linked2 tests
Congenital bilateral aplasia of vas deferens from CFTR mutation6 tests
Congenital bile acid synthesis defect 11 test
Congenital bile acid synthesis defect 21 test
Congenital cataracts-facial dysmorphism-neuropathy syndrome2 tests
Congenital central hypoventilation7 tests
Congenital chromosomal disease7 tests
Congenital contractural arachnodactyly6 tests
Congenital defect of folate absorption1 test
Congenital disorder of deglycosylation2 tests
Congenital disorder of glycosylation14 tests
Congenital disorder of glycosylation type 1C4 tests
Congenital disorder of glycosylation type 1E6 tests
Congenital disorder of glycosylation type 1M4 tests
Congenital disorder of glycosylation type 1N4 tests
Congenital disorder of glycosylation type 1O6 tests
Congenital disorder of glycosylation type 1P3 tests
Congenital disorder of glycosylation type 1Q3 tests
Congenital disorder of glycosylation type 1t6 tests
Congenital disorder of glycosylation type 1u2 tests
Congenital disorder of glycosylation type 2B6 tests
Congenital disorder of glycosylation type 2F4 tests
Congenital disorder of glycosylation type 2H4 tests
Congenital disorder of glycosylation type 2J3 tests
Congenital disorder of glycosylation type 2L3 tests
Congenital disorder of glycosylation type 2i3 tests
Congenital disorder of glycosylation type 2k2 tests
Congenital disorder of glycosylation type Ir3 tests
Congenital disorder of glycosylation, type IIa4 tests
Congenital disorder of glycosylation, type Ia8 tests
Congenital dyserythropoietic anemia, type II3 tests
Congenital generalized lipodystrophy type 12 tests
Congenital generalized lipodystrophy type 24 tests
Congenital hyperammonemia, type I1 test
Congenital hypomyelinating neuropathy 1, autosomal recessive2 tests
Congenital hypothyroidism6 tests
Congenital hypotrichosis with juvenile macular dystrophy7 tests
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type2 tests
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi2 tests
Congenital muscular dystrophy2 tests
Congenital muscular dystrophy, LMNA-related15 tests
Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B514 tests
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A512 tests
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A214 tests
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A62 tests
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A77 tests
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B114 tests
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B214 tests
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B312 tests
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B64 tests
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B414 tests
Congenital muscular hypertrophy-cerebral syndrome8 tests
Congenital myasthenic syndrome 122 tests
Congenital myasthenic syndrome 132 tests
Congenital myasthenic syndrome 1B, fast-channel4 tests
Congenital myasthenic syndrome 4C4 tests
Congenital myasthenic syndrome, acetazolamide-responsive4 tests
Congenital myopathy with fiber type disproportion5 tests
Congenital ocular coloboma6 tests
Congenital primary aphakia4 tests
Congenital sensory neuropathy with selective loss of small myelinated fibers2 tests
Congenital stationary night blindness1 test
Congenital stationary night blindness, autosomal dominant 17 tests
Congenital stationary night blindness, autosomal dominant 25 tests
Congenital stationary night blindness, autosomal dominant 34 tests
Congenital stationary night blindness, type 1A4 tests
Congenital stationary night blindness, type 1B4 tests
Congenital stationary night blindness, type 1C4 tests
Congenital stationary night blindness, type 1D4 tests
Congenital stationary night blindness, type 1E4 tests
Congenital stationary night blindness, type 1F4 tests
Congenital stationary night blindness, type 2A6 tests
Congenital stationary night blindness, type 2B8 tests
Conotruncal heart malformations5 tests
Cornelia de Lange syndrome 110 tests
Cornelia de Lange syndrome 33 tests
Cornelia de Lange syndrome 42 tests
Cornelia de Lange syndrome 52 tests
Corpus callosum agenesis-abnormal genitalia syndrome8 tests
Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia3 tests
Corpus callosum, partial agenesis of, X-linked5 tests
Cortical dysplasia, complex, with other brain malformations 13 tests
Cortical malformations, occipital3 tests
Costello syndrome7 tests
Cowden syndrome11 tests
Cowden syndrome 13 tests
Cowden syndrome 37 tests
Coxa plana8 tests
Craniodiaphyseal dysplasia, autosomal dominant2 tests
Cranioectodermal dysplasia 13 tests
Cranioectodermal dysplasia 25 tests
Cranioectodermal dysplasia 32 tests
Cranioectodermal dysplasia 42 tests
Craniometaphyseal dysplasia, autosomal dominant5 tests
Crigler-Najjar syndrome1 test
Crigler-Najjar syndrome, type II1 test
Crouzon syndrome5 tests
Crouzon syndrome with acanthosis nigricans7 tests
Curry-Hall syndrome5 tests
Cushing syndrome4 tests
Cutaneous malignant melanoma 19 tests
Cutaneous malignant melanoma 24 tests
Cutaneous malignant melanoma 33 tests
Cutaneous malignant melanoma 92 tests
Cutaneous telangiectasia and cancer syndrome, familial1 test
Cutis laxa with osteodystrophy8 tests
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities3 tests
Cutis laxa, X-linked1 test
Cutis laxa, autosomal dominant 17 tests
Cutis laxa, autosomal dominant 25 tests
Cyclical neutropenia2 tests
Cystic fibrosis17 tests
Cystinosis, atypical nephropathic1 test
Cytochrome c oxidase i deficiency1 test
Czech dysplasia, metatarsal type10 tests
DE SANCTIS-CACCHIONE SYNDROME1 test
DOORS syndrome3 tests
DPAGT1-CDG5 tests
Danon disease16 tests
Deafness and myopia1 test
Deafness dystonia syndrome10 tests
Deafness with labyrinthine aplasia microtia and microdontia (LAMM)2 tests
Deafness, X-linked 15 tests
Deafness, X-linked 22 tests
Deafness, X-linked 42 tests
Deafness, X-linked 51 test
Deafness, X-linked 61 test
Deafness, autosomal dominant 12 tests
Deafness, autosomal dominant 102 tests
Deafness, autosomal dominant 117 tests
Deafness, autosomal dominant 122 tests
Deafness, autosomal dominant 138 tests
Deafness, autosomal dominant 205 tests
Deafness, autosomal dominant 232 tests
Deafness, autosomal dominant 252 tests
Deafness, autosomal dominant 282 tests
Deafness, autosomal dominant 2b2 tests
Deafness, autosomal dominant 362 tests
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 12 tests
Deafness, autosomal dominant 3a2 tests
Deafness, autosomal dominant 3b2 tests
Deafness, autosomal dominant 42 tests
Deafness, autosomal dominant 411 test
Deafness, autosomal dominant 442 tests
Deafness, autosomal dominant 482 tests
Deafness, autosomal dominant 4b2 tests
Deafness, autosomal dominant 52 tests
Deafness, autosomal dominant 642 tests
Deafness, autosomal dominant 651 test
Deafness, autosomal dominant 671 test
Deafness, autosomal dominant 681 test
Deafness, autosomal dominant 92 tests
Deafness, autosomal recessive 1011 test
Deafness, autosomal recessive 1021 test
Deafness, autosomal recessive 1031 test
Deafness, autosomal recessive 1041 test
Deafness, autosomal recessive 127 tests
Deafness, autosomal recessive 152 tests
Deafness, autosomal recessive 187 tests
Deafness, autosomal recessive 18b1 test
Deafness, autosomal recessive 1A4 tests
Deafness, autosomal recessive 1b2 tests
Deafness, autosomal recessive 27 tests
Deafness, autosomal recessive 212 tests
Deafness, autosomal recessive 222 tests
Deafness, autosomal recessive 237 tests
Deafness, autosomal recessive 242 tests
Deafness, autosomal recessive 252 tests
Deafness, autosomal recessive 282 tests
Deafness, autosomal recessive 292 tests
Deafness, autosomal recessive 32 tests
Deafness, autosomal recessive 302 tests
Deafness, autosomal recessive 317 tests
Deafness, autosomal recessive 352 tests
Deafness, autosomal recessive 372 tests
Deafness, autosomal recessive 392 tests
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct5 tests
Deafness, autosomal recessive 422 tests
Deafness, autosomal recessive 441 test
Deafness, autosomal recessive 483 tests
Deafness, autosomal recessive 492 tests
Deafness, autosomal recessive 538 tests
Deafness, autosomal recessive 592 tests
Deafness, autosomal recessive 62 tests
Deafness, autosomal recessive 612 tests
Deafness, autosomal recessive 632 tests
Deafness, autosomal recessive 661 test
Deafness, autosomal recessive 672 tests
Deafness, autosomal recessive 72 tests
Deafness, autosomal recessive 742 tests
Deafness, autosomal recessive 761 test
Deafness, autosomal recessive 772 tests
Deafness, autosomal recessive 792 tests
Deafness, autosomal recessive 82 tests
Deafness, autosomal recessive 84b1 test
Deafness, autosomal recessive 864 tests
Deafness, autosomal recessive 881 test
Deafness, autosomal recessive 891 test
Deafness, autosomal recessive 92 tests
Deafness, autosomal recessive 912 tests
Deafness, autosomal recessive 931 test
Deafness, autosomal recessive 981 test
Deafness, digenic, GJB2/GJB64 tests
Deafness, nonsyndromic sensorineural, mitochondrial2 tests
Deficiency of 3-hydroxyacyl-CoA dehydrogenase2 tests
Deficiency of N-acetylglucosamine-1-phosphotransferase2 tests
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase6 tests
Deficiency of acetyl-CoA acetyltransferase2 tests
Deficiency of alpha-mannosidase9 tests
Deficiency of aromatic-L-amino-acid decarboxylase1 test
Deficiency of butyryl-CoA dehydrogenase3 tests
Deficiency of galactokinase4 tests
Deficiency of glycerol kinase3 tests
Deficiency of guanidinoacetate methyltransferase3 tests
Deficiency of hyaluronoglucosaminidase3 tests
Deficiency of hydroxymethylglutaryl-CoA lyase4 tests
Deficiency of isobutyryl-CoA dehydrogenase3 tests
Deficiency of malonyl-CoA decarboxylase3 tests
Deficiency of steroid 17-alpha-monooxygenase2 tests
Dejerine-Sottas disease2 tests
Dent disease type 12 tests
Dent disease type 21 test
Denticles2 tests
Dentinogenesis imperfecta type 22 tests
Dentinogenesis imperfecta type 32 tests
Dermatofibrosis lenticularis disseminata2 tests
Desbuquois dysplasia 13 tests
Desmoid disease, hereditary2 tests
Desmosterolosis3 tests
Developmental delay1 test
Developmental malformations-deafness-dystonia syndrome3 tests
DiGeorge Syndrome1 test
DiGeorge syndrome/velocardiofacial syndrome complex 23 tests
Diabetes mellitus type 14 tests
Diabetes mellitus, insulin-dependent, 22 tests
Diabetes mellitus, insulin-dependent, 204 tests
Diabetes mellitus, ketosis-prone2 tests
Diabetes mellitus, neonatal, with congenital hypothyroidism2 tests
Diabetes mellitus, noninsulin-dependent, 11 test
Diabetes mellitus, permanent neonatal, with cerebellar agenesis2 tests
Diaphyseal dysplasia2 tests
Diarrhea 5, with tufting enteropathy, congenital1 test
Diastrophic dysplasia4 tests
Diffuse Gastric Cancer Syndrome2 tests
Digital arthropathy-brachydactyly, familial3 tests
Digital clubbing, isolated congenital2 tests
Dihydropteridine reductase deficiency1 test
Dihydropyrimidinase deficiency1 test
Dihydropyrimidine dehydrogenase deficiency2 tests
Dilated cardiomyopathy 1A13 tests
Dilated cardiomyopathy 1AA4 tests
Dilated cardiomyopathy 1BB6 tests
Dilated cardiomyopathy 1C6 tests
Dilated cardiomyopathy 1CC4 tests
Dilated cardiomyopathy 1DD4 tests
Dilated cardiomyopathy 1E11 tests
Dilated cardiomyopathy 1EE2 tests
Dilated cardiomyopathy 1FF5 tests
Dilated cardiomyopathy 1G11 tests
Dilated cardiomyopathy 1HH4 tests
Dilated cardiomyopathy 1I5 tests
Dilated cardiomyopathy 1II4 tests
Dilated cardiomyopathy 1J2 tests
Dilated cardiomyopathy 1JJ2 tests
Dilated cardiomyopathy 1KK4 tests
Dilated cardiomyopathy 1L11 tests
Dilated cardiomyopathy 1LL3 tests
Dilated cardiomyopathy 1M4 tests
Dilated cardiomyopathy 1O2 tests
Dilated cardiomyopathy 1P4 tests
Dilated cardiomyopathy 1R5 tests
Dilated cardiomyopathy 1S7 tests
Dilated cardiomyopathy 1W4 tests
Dilated cardiomyopathy 1X16 tests
Dilated cardiomyopathy 1Y5 tests
Dilated cardiomyopathy 1Z5 tests
Dilated cardiomyopathy 2A5 tests
Dilated cardiomyopathy 3B10 tests
Dilated cardiomyopathy with woolly hair and keratoderma6 tests
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome13 tests
Disorder of amino acid metabolism5 tests
Disorder of fatty acid metabolism4 tests
Disorder of organic acid metabolism5 tests
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency2 tests
Distal arthrogryposis type 1A3 tests
Distal arthrogryposis type 2B5 tests
Distal hereditary motor neuronopathy type 2A2 tests
Distal hereditary motor neuronopathy type 2B2 tests
Distal hereditary motor neuronopathy type 56 tests
Distal hereditary motor neuronopathy type 5B2 tests
Distal hereditary motor neuronopathy type 7B2 tests
Distal myopathy, Tateyama type11 tests
Distal spinal muscular atrophy, X-linked 31 test
Distal spinal muscular atrophy, autosomal recessive 42 tests
Distal spinal muscular atrophy, congenital nonprogressive3 tests
Dizygotic twins1 test
Dopa-responsive dystonia due to sepiapterin reductase deficiency1 test
Doyne honeycomb retinal dystrophy5 tests
Drash syndrome7 tests
Duane-radial ray syndrome5 tests
Dubin-Johnson syndrome1 test
Duchenne muscular dystrophy15 tests
Dyggve-Melchior-Clausen syndrome3 tests
Dyskeratosis congenita, X-linked3 tests
Dyskeratosis congenita, autosomal dominant, 22 tests
Dysmorphic features4 tests
Dystonia 11 test
Dystonia 271 test
Dystonia 95 tests
Dystonia, primary cervical1 test
Dystransthyretinemic euthyroidal hyperthyroxinemia5 tests
Dystrophinopathies2 tests
EAST syndrome5 tests
EEM syndrome8 tests
Early infantile epileptic encephalopathy 107 tests
Early infantile epileptic encephalopathy 113 tests
Early infantile epileptic encephalopathy 123 tests
Early infantile epileptic encephalopathy 133 tests
Early infantile epileptic encephalopathy 143 tests
Early infantile epileptic encephalopathy 155 tests
Early infantile epileptic encephalopathy 163 tests
Early infantile epileptic encephalopathy 26 tests
Early infantile epileptic encephalopathy 43 tests
Early infantile epileptic encephalopathy 53 tests
Early infantile epileptic encephalopathy 73 tests
Early infantile epileptic encephalopathy 86 tests
Early infantile epileptic encephalopathy 98 tests
Early myoclonic encephalopathy3 tests
Early repolarization associated with ventricular fibrillation2 tests
Early-onset parkinsonism-intellectual disability syndrome1 test
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant1 test
Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant1 test
Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive1 test
Ectodermal dysplasia, X-linked1 test
Ectopia lentis, isolated, autosomal dominant9 tests
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 33 tests
Ehlers-Danlos syndrome2 tests
Ehlers-Danlos syndrome dermatosparaxis type2 tests
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss2 tests
Ehlers-Danlos syndrome, cardiac valvular type4 tests
Ehlers-Danlos syndrome, classic type9 tests
Ehlers-Danlos syndrome, hydroxylysine-deficient2 tests
Ehlers-Danlos syndrome, musculocontractural type7 tests
Ehlers-Danlos syndrome, procollagen proteinase deficient7 tests
Ehlers-Danlos syndrome, progeroid type, 23 tests
Ehlers-Danlos syndrome, spondylodysplastic type, 14 tests
Ehlers-Danlos syndrome, type 34 tests
Ehlers-Danlos syndrome, type 44 tests
Eichsfeld type congenital muscular dystrophy7 tests
Eiken syndrome3 tests
Elevated serum creatine phosphokinase11 tests
Ellis-van Creveld syndrome5 tests
Emery-Dreifuss muscular dystrophy 1, X-linked13 tests
Emery-Dreifuss muscular dystrophy 2, autosomal dominant13 tests
Emery-Dreifuss muscular dystrophy 4, autosomal dominant2 tests
Emery-Dreifuss muscular dystrophy 62 tests
Emery-Dreifuss muscular dystrophy 7, autosomal dominant6 tests
Encephalopathy, progressive, with or without lipodystrophy2 tests
Endocrine-cerebroosteodysplasia3 tests
Endometrial carcinoma14 tests
Endplate acetylcholinesterase deficiency4 tests
Enhanced S-cone syndrome3 tests
Epidermal nevus10 tests
Epidermal nevus syndrome4 tests
Epidermolysis bullosa1 test
Epidermolysis bullosa simplex with muscular dystrophy7 tests
Epidermolysis bullosa simplex with pyloric atresia7 tests
Epidermolysis bullosa simplex, Ogna type7 tests
Epilepsy, X-linked, with variable learning disabilities and behavior disorders6 tests
Epilepsy, childhood absence 52 tests
Epilepsy, familial temporal lobe, 53 tests
Epilepsy, focal, with speech disorder and with or without mental retardation3 tests
Epilepsy, juvenile absence, susceptibility to, 11 test
Epilepsy, nocturnal frontal lobe, 53 tests
Epilepsy, nocturnal frontal lobe, type 13 tests
Epilepsy, nocturnal frontal lobe, type 33 tests
Epilepsy, nocturnal frontal lobe, type 43 tests
Epilepsy, progressive myoclonic 38 tests
Epilepsy, progressive myoclonic 4, with or without renal failure3 tests
Epilepsy, progressive myoclonic 52 tests
Epilepsy, progressive myoclonic 63 tests
Epileptic encephalopathy, early infantile, 19 tests
Epileptic encephalopathy, early infantile, 191 test
Epileptic encephalopathy, early infantile, 362 tests
Epiphyseal dysplasia, multiple, 27 tests
Epiphyseal dysplasia, multiple, 34 tests
Epiphyseal dysplasia, multiple, with myopia and conductive deafness10 tests
Episodic ataxia1 test
Episodic ataxia type 14 tests
Episodic ataxia type 22 tests
Episodic ataxia, type 55 tests
Episodic ataxia, type 62 tests
Episodic kinesigenic dyskinesia 12 tests
Erythrocyte AMP deaminase deficiency4 tests
Erythrocytosis, familial, 24 tests
Erythrokeratodermia variabilis et progressiva 12 tests
Ethylmalonic encephalopathy1 test
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis2 tests
Exudative vitreoretinopathy 13 tests
Exudative vitreoretinopathy 47 tests
Exudative vitreoretinopathy 54 tests
FG syndrome 18 tests
FG syndrome 213 tests
FLNA related disorders1 test
FRAXE5 tests
Fabry disease16 tests
Facioscapulohumeral muscular dystrophy 21 test
Failure of tooth eruption, primary3 tests
Familial Mediterranean fever4 tests
Familial X-linked hypophosphatemic vitamin D refractory rickets2 tests
Familial adenomatous polyposis 14 tests
Familial amyloid nephropathy with urticaria AND deafness2 tests
Familial atrial fibrillation2 tests
Familial atrial myxoma5 tests
Familial benign pemphigus1 test
Familial cancer of breast4 tests
Familial cold autoinflammatory syndrome 12 tests
Familial colorectal cancer6 tests
Familial dysautonomia7 tests
Familial expansile osteolysis3 tests
Familial exudative vitreoretinopathy, X-linked7 tests
Familial febrile seizures 83 tests
Familial hemiplegic migraine type 12 tests
Familial hemiplegic migraine type 23 tests
Familial hemiplegic migraine type 37 tests
Familial hemophagocytic lymphohistiocytosis1 test
Familial hemophagocytic lymphohistiocytosis 21 test
Familial hemophagocytic lymphohistiocytosis 31 test
Familial hemophagocytic lymphohistiocytosis 41 test
Familial hyperaldosteronism type 32 tests
Familial hypercholesterolemia 11 test
Familial hyperkalemic periodic paralysis4 tests
Familial hypertrophic cardiomyopathy 115 tests
Familial hypertrophic cardiomyopathy 105 tests
Familial hypertrophic cardiomyopathy 115 tests
Familial hypertrophic cardiomyopathy 124 tests
Familial hypertrophic cardiomyopathy 135 tests
Familial hypertrophic cardiomyopathy 142 tests
Familial hypertrophic cardiomyopathy 154 tests
Familial hypertrophic cardiomyopathy 164 tests
Familial hypertrophic cardiomyopathy 174 tests
Familial hypertrophic cardiomyopathy 184 tests
Familial hypertrophic cardiomyopathy 25 tests
Familial hypertrophic cardiomyopathy 204 tests
Familial hypertrophic cardiomyopathy 232 tests
Familial hypertrophic cardiomyopathy 35 tests
Familial hypertrophic cardiomyopathy 45 tests
Familial hypertrophic cardiomyopathy 67 tests
Familial hypertrophic cardiomyopathy 75 tests
Familial hypertrophic cardiomyopathy 85 tests
Familial hypertrophic cardiomyopathy 911 tests
Familial infantile myasthenia4 tests
Familial isolated deficiency of vitamin E3 tests
Familial juvenile hyperuricemic nephropathy type 12 tests
Familial mediterranean fever, autosomal dominant5 tests
Familial medullary thyroid carcinoma7 tests
Familial multiple polyposis syndrome4 tests
Familial pancreatic carcinoma1 test
Familial partial lipodystrophy 213 tests
Familial partial lipodystrophy 32 tests
Familial partial lipodystrophy 52 tests
Familial restrictive cardiomyopathy 15 tests
Familial restrictive cardiomyopathy 35 tests
Familial temporal lobe epilepsy 13 tests
Fanconi anemia2 tests
Fanconi anemia, complementation group B3 tests
Fanconi anemia, complementation group C3 tests
Fanconi anemia, complementation group D12 tests
Fanconi anemia, complementation group J2 tests
Fanconi anemia, complementation group N4 tests
Fanconi anemia, complementation group O2 tests
Fanconi anemia, complementation group U3 tests
Fanconi-Bickel syndrome6 tests
Farber disease2 tests
Febrile seizures, familial, 113 tests
Febrile seizures, familial, 410 tests
Feingold syndrome 14 tests
Fibrochondrogenesis 110 tests
Fibrochondrogenesis 28 tests
Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement3 tests
Fibular hypoplasia and complex brachydactyly5 tests
Fleck retina, familial benign5 tests
Floating-Harbor syndrome1 test
Focal cortical dysplasia type II8 tests
Focal dermal hypoplasia3 tests
Foveal hypoplasia and presenile cataract syndrome6 tests
Fragile X syndrome11 tests
Fragile X tremor/ataxia syndrome4 tests
Frank-Ter Haar syndrome3 tests
Fraser syndrome 14 tests
Frasier syndrome4 tests
Friedreich ataxia 12 tests
Frontometaphyseal dysplasia 111 tests
Fructose-biphosphatase deficiency4 tests
Fucosidosis8 tests
Fuhrmann syndrome3 tests
Fukuyama congenital muscular dystrophy16 tests
Fumarase deficiency5 tests
GLUT1 deficiency syndrome 17 tests
GLUT1 deficiency syndrome 25 tests
GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY2 tests
GM1 gangliosidosis5 tests
GM1 gangliosidosis type 23 tests
GM1 gangliosidosis type 33 tests
GM2-gangliosidosis, B, B1, AB variant1 test
GM3 synthase deficiency5 tests
GNE myopathy10 tests
GRACILE syndrome2 tests
Galactosemia2 tests
Galactosylceramide beta-galactosidase deficiency6 tests
Gallbladder disease 41 test
Gamma-aminobutyric acid transaminase deficiency2 tests
Gardner syndrome2 tests
Gastrointestinal stromal tumor6 tests
Gaucher disease12 tests
Gaucher disease type 3C2 tests
Gaucher disease type I2 tests
Gaucher disease type II2 tests
Gaucher disease type III2 tests
Gaucher disease, atypical, due to saposin C deficiency4 tests
Gaucher disease, perinatal lethal2 tests
Geleophysic dysplasia 29 tests
Generalized epilepsy with febrile seizures plus, type 17 tests
Generalized epilepsy with febrile seizures plus, type 27 tests
Generalized epilepsy with febrile seizures plus, type 73 tests
Generalized juvenile polyposis/juvenile polyposis coli6 tests
Geroderma osteodysplastica2 tests
Ghosal hematodiaphyseal dysplasia2 tests
Giant axonal neuropathy 12 tests
Gilbert syndrome1 test
Gillespie syndrome6 tests
Gingival fibromatosis 13 tests
Glaucoma 1, open angle, A2 tests
Glaucoma 3, primary congenital, A4 tests
Glaucoma 3, primary congenital, d2 tests
Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset1 test
Glaucoma, normal tension, susceptibility to2 tests
Glioma susceptibility 32 tests
Global developmental delay4 tests
Glomerulocystic kidney disease with hyperuricemia and isosthenuria2 tests
Glucocorticoid deficiency with achalasia1 test
Glucose 6 phosphate dehydrogenase deficiency2 tests
Glucose-6-phosphate transport defect8 tests
Glutaric aciduria, type 15 tests
Glutaryl-CoA oxidase deficiency1 test
Glycogen storage disease4 tests
Glycogen storage disease 0, muscle5 tests
Glycogen storage disease II, adult form4 tests
Glycogen storage disease IIIa1 test
Glycogen storage disease IXb6 tests
Glycogen storage disease IXc4 tests
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA6 tests
Glycogen storage disease due to hepatic glycogen synthase deficiency5 tests
Glycogen storage disease due to muscle beta-enolase deficiency5 tests
Glycogen storage disease of heart, lethal congenital9 tests
Glycogen storage disease type III7 tests
Glycogen storage disease type IXa14 tests
Glycogen storage disease type X4 tests
Glycogen storage disease, type II18 tests
Glycogen storage disease, type IV7 tests
Glycogen storage disease, type V15 tests
Glycogen storage disease, type VI5 tests
Glycogen storage disease, type VII5 tests
Gnathodiaphyseal dysplasia11 tests
Goldberg-Shprintzen megacolon syndrome3 tests
Gonadotropin-independent familial sexual precocity2 tests
Gorlin syndrome6 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative2 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III2 tests
Grebe syndrome5 tests
Greig cephalopolysyndactyly syndrome8 tests
Griscelli syndrome type 11 test
Griscelli syndrome type 22 tests
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions5 tests
Growth delay due to insulin-like growth factor I resistance1 test
Growth delay due to insulin-like growth factor type 1 deficiency1 test
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive3 tests
Guillain-Barre syndrome, familial2 tests
HSD10 disease1 test
Haim-Munk syndrome1 test
Hajdu-Cheney syndrome3 tests
Hamartoma of hypothalamus8 tests
Hay-Wells syndrome of ectodermal dysplasia3 tests
Heart-hand syndrome, Slovenian type13 tests
Heme oxygenase 1 deficiency1 test
Hemochromatosis type 14 tests
Hemophagocytic lymphohistiocytosis, familial, 53 tests
Hepatic adenomas, familial4 tests
Hepatic methionine adenosyltransferase deficiency1 test
Hepatocellular carcinoma2 tests
Hereditary amyloidosis4 tests
Hereditary breast and ovarian cancer syndrome4 tests
Hereditary cancer-predisposing syndrome1 test
Hereditary diffuse gastric cancer10 tests
Hereditary disease5 tests
Hereditary factor IX deficiency disease1 test
Hereditary factor XI deficiency disease1 test
Hereditary fructosuria1 test
Hereditary gingival fibromatosis3 tests
Hereditary hearing loss and deafness2 tests
Hereditary hemorrhagic telangiectasia type 14 tests
Hereditary insensitivity to pain with anhidrosis2 tests
Hereditary leiomyomatosis and renal cell cancer5 tests
Hereditary liability to pressure palsies2 tests
Hereditary mixed polyposis syndrome 13 tests
Hereditary mixed polyposis syndrome 22 tests
Hereditary motor and sensory neuropathy with optic atrophy3 tests
Hereditary nonpolyposis colorectal cancer type 44 tests
Hereditary nonpolyposis colorectal cancer type 58 tests
Hereditary nonpolyposis colorectal cancer type 64 tests
Hereditary nonpolyposis colorectal cancer type 82 tests
Hereditary pancreatitis7 tests
Hereditary sensory and autonomic neuropathy type 12 tests
Hereditary sensory and autonomic neuropathy type IC1 test
Hereditary sensory and autonomic neuropathy type IIA2 tests
Hereditary sensory and autonomic neuropathy type IIB2 tests
Hereditary sensory neuropathy type 1D2 tests
Hereditary sensory neuropathy type IE2 tests
Hereditary spastic paraplegia 102 tests
Hereditary spastic paraplegia 152 tests
Hereditary spastic paraplegia 26 tests
Hereditary spastic paraplegia 392 tests
Hereditary spastic paraplegia 3A2 tests
Hereditary spastic paraplegia 5A1 test
Hereditary spastic paraplegia 62 tests
Hereditary spastic paraplegia 72 tests
Hereditary spastic paraplegia 82 tests
Hermansky-Pudlak syndrome1 test
Hermansky-Pudlak syndrome 14 tests
Hermansky-Pudlak syndrome 24 tests
Hermansky-Pudlak syndrome 32 tests
Hermansky-Pudlak syndrome 46 tests
Hermansky-Pudlak syndrome 51 test
Hermansky-Pudlak syndrome 64 tests
Hermansky-Pudlak syndrome 72 tests
Hermansky-Pudlak syndrome 82 tests
Hermansky-Pudlak syndrome 93 tests
Heterotaxy, visceral, 1, X-linked2 tests
Heterotaxy, visceral, 4, autosomal1 test
Heterotopia, periventricular, autosomal recessive3 tests
Hidrotic ectodermal dysplasia syndrome2 tests
Histiocytic medullary reticulosis3 tests
Histiocytosis-lymphadenopathy plus syndrome2 tests
Holocarboxylase synthetase deficiency4 tests
Holoprosencephaly 23 tests
Holoprosencephaly 36 tests
Holoprosencephaly 41 test
Holoprosencephaly 51 test
Holoprosencephaly 76 tests
Holoprosencephaly 92 tests
Holt-Oram syndrome3 tests
Homocystinuria1 test
Homocystinuria due to methylene tetrahydrofolate reductase deficiency2 tests
Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type1 test
Human HOXA1 syndromes2 tests
Huntington disease1 test
Hurler syndrome3 tests
Hutchinson-Gilford syndrome13 tests
Hydatidiform mole, recurrent, 11 test
Hydrolethalus syndrome 12 tests
Hydrolethalus syndrome 212 tests
Hyper-IgE recurrent infection syndrome 1, autosomal dominant3 tests
Hyper-IgM syndrome type 12 tests
Hyper-IgM syndrome type 22 tests
Hyperammonemia, type III1 test
Hypercholanemia, familial3 tests
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency3 tests
Hyperhomocysteinemia1 test
Hyperimmunoglobulin D with periodic fever4 tests
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive3 tests
Hyperinsulinemic hypoglycemia familial 53 tests
Hyperinsulinemic hypoglycemia, familial, 12 tests
Hyperinsulinemic hypoglycemia, familial, 24 tests
Hyperinsulinemic hypoglycemia, familial, 44 tests
Hyperinsulinism due to glucokinase deficiency4 tests
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1 test
Hyperparathyroidism2 tests
Hyperparathyroidism 12 tests
Hyperparathyroidism 22 tests
Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency1 test
Hyperphosphatasemia tarda2 tests
Hyperphosphatasemia with bone disease2 tests
Hyperphosphatasia with mental retardation syndrome 16 tests
Hyperphosphatasia with mental retardation syndrome 23 tests
Hyperphosphatasia with mental retardation syndrome 31 test
Hyperphosphatasia with mental retardation syndrome 41 test
Hyperphosphatasia with mental retardation syndrome 61 test
Hyperphosphatemic familial tumoral calcinosis 15 tests
Hypertrichotic osteochondrodysplasia Cantu type2 tests
Hypertrophic cardiomyopathy 259 tests
Hypertrophic osteoarthropathy, primary, autosomal recessive, 12 tests
Hypocalcemia, autosomal dominant 14 tests
Hypocalciuric hypercalcemia, familial, type 14 tests
Hypoceruloplasminemia1 test
Hypochondroplasia7 tests
Hypoglycemia, neonatal, simulating foetopathia diabetica2 tests
Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities1 test
Hypogonadotropic hypogonadism 10 with or without anosmia2 tests
Hypogonadotropic hypogonadism 11 with or without anosmia2 tests
Hypogonadotropic hypogonadism 12 with or without anosmia2 tests
Hypogonadotropic hypogonadism 13 with or without anosmia2 tests
Hypogonadotropic hypogonadism 2 with or without anosmia5 tests
Hypogonadotropic hypogonadism 4 with or without anosmia2 tests
Hypogonadotropic hypogonadism 5 with or without anosmia4 tests
Hypogonadotropic hypogonadism 6 with or without anosmia3 tests
Hypogonadotropic hypogonadism 7 with or without anosmia2 tests
Hypogonadotropic hypogonadism 8 with or without anosmia2 tests
Hypogonadotropic hypogonadism 9 with or without anosmia2 tests
Hypokalemic periodic paralysis, type 24 tests
Hypomyelination, global cerebral1 test
Hypoparathyroidism-retardation-dysmorphism syndrome4 tests
Hypophosphatemic rickets, X-linked recessive2 tests
Hypophosphatemic rickets, autosomal recessive, 22 tests
Hypoplastic left heart syndrome 27 tests
Hypothyroidism, congenital, nongoitrous, 53 tests
Hypotrichosis 71 test
Hystrix-like ichthyosis with deafness2 tests
IFAP syndrome with or without BRESHECK syndrome3 tests
Ichthyosis prematurity syndrome1 test
Ichthyosis, spastic quadriplegia, and mental retardation4 tests
Idiopathic Pulmonary Fibrosis2 tests
Idiopathic basal ganglia calcification 11 test
Idiopathic generalized epilepsy2 tests
Ige responsiveness, atopic2 tests
Immunodeficiency 134 tests
Immunodeficiency 182 tests
Immunodeficiency 192 tests
Immunodeficiency 352 tests
Immunodeficiency due to defect in cd3-zeta1 test
Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia1 test
Indifference to pain, congenital, autosomal recessive3 tests
Infantile GM1 gangliosidosis3 tests
Infantile Refsum disease2 tests
Infantile convulsions and choreoathetosis2 tests
Infantile cortical hyperostosis7 tests
Infantile hypophosphatasia1 test
Infantile myofibromatosis 11 test
Infantile nephronophthisis10 tests
Infantile onset spinocerebellar ataxia2 tests
Infertility4 tests
Infertility due to oligospermia2 tests
Inflammatory bowel disease 11 test
Inflammatory bowel disease 141 test
Inflammatory bowel disease 28, autosomal recessive2 tests
Insulin-dependent diabetes mellitus secretory diarrhea syndrome4 tests
Insulin-resistant diabetes mellitus AND acanthosis nigricans3 tests
Intellectual disability4 tests
Intellectual disability, X-linked 142 tests
Intellectual disability, X-linked 213 tests
Interleukin 2 receptor, alpha, deficiency of2 tests
Intermediate maple syrup urine disease type 21 test
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked11 tests
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies5 tests
Irido-corneo-trabecular dysgenesis10 tests
Isolated growth hormone deficiency type IB2 tests
Isolated lutropin deficiency2 tests
Isolated sulfite oxidase deficiency1 test
Isovaleryl-CoA dehydrogenase deficiency5 tests
Jackson-Weiss syndrome7 tests
Jalili syndrome6 tests
Jervell and Lange-Nielsen syndrome 17 tests
Jervell and Lange-Nielsen syndrome 27 tests
Joubert syndrome 108 tests
Joubert syndrome 136 tests
Joubert syndrome 148 tests
Joubert syndrome 158 tests
Joubert syndrome 164 tests
Joubert syndrome 175 tests
Joubert syndrome 187 tests
Joubert syndrome 214 tests
Joubert syndrome 201 test
Joubert syndrome 39 tests
Joubert syndrome 413 tests
Joubert syndrome 519 tests
Joubert syndrome 610 tests
Joubert syndrome 712 tests
Joubert syndrome 86 tests
Joubert syndrome 913 tests
Joubert syndrome with hepatic defect13 tests
Juvenile myelomonocytic leukemia10 tests
Juvenile myoclonic epilepsy1 test
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1 test
Juvenile nephropathic cystinosis2 tests
Juvenile polyposis of infancy2 tests
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome10 tests
Juvenile retinoschisis3 tests
Kabuki syndrome4 tests
Kabuki syndrome 13 tests
Kabuki syndrome 21 test
Kahrizi syndrome2 tests
Kallmann syndrome 32 tests
Kartagener syndrome5 tests
Keratitis, hereditary6 tests
Keratitis-ichthyosis-deafness syndrome, autosomal dominant2 tests
Keratosis follicularis spinulosa decalvans, X-linked1 test
Keratosis palmoplantaris striata II6 tests
Keutel syndrome3 tests
Kleefstra syndrome 15 tests
Klinefelter syndrome1 test
Kniest dysplasia10 tests
Known OR suspected fetal abnormality affecting management of mother1 test
Knuckle pads, deafness AND leukonychia syndrome2 tests
Krabbe disease, atypical, due to saposin A deficiency4 tests
Kufor-Rakeb syndrome3 tests
L-2-hydroxyglutaric aciduria1 test
L1 syndrome2 tests
LEOPARD syndrome 111 tests
LEOPARD syndrome 26 tests
LEOPARD syndrome 35 tests
Lafora disease3 tests
Langer mesomelic dysplasia syndrome5 tests
Laron-type isolated somatotropin defect1 test
Larsen syndrome3 tests
Late-onset retinal degeneration4 tests
Lchad deficiency with maternal acute fatty liver of pregnancy1 test
Leber congenital amaurosis1 test
Leber congenital amaurosis 19 tests
Leber congenital amaurosis 1019 tests
Leber congenital amaurosis 117 tests
Leber congenital amaurosis 126 tests
Leber congenital amaurosis 139 tests
Leber congenital amaurosis 147 tests
Leber congenital amaurosis 157 tests
Leber congenital amaurosis 167 tests
Leber congenital amaurosis 27 tests
Leber congenital amaurosis 37 tests
Leber congenital amaurosis 49 tests
Leber congenital amaurosis 56 tests
Leber congenital amaurosis 611 tests
Leber congenital amaurosis 79 tests
Leber congenital amaurosis 87 tests
Leber hereditary optic neuropathy1 test
Left ventricular noncompaction2 tests
Left ventricular noncompaction 12 tests
Left ventricular noncompaction 105 tests
Left ventricular noncompaction 65 tests
Legius syndrome2 tests
Leigh syndrome5 tests
Leigh syndrome due to mitochondrial complex I deficiency2 tests
Lenz microphthalmia syndrome1 test
Leprechaunism syndrome3 tests
Leri-Weill dyschondrosteosis5 tests
Lesch-Nyhan syndrome4 tests
Lethal Kniest-like syndrome3 tests
Lethal acantholytic epidermolysis bullosa6 tests
Lethal arthrogryposis with anterior horn cell disease2 tests
Lethal congenital contracture syndrome 12 tests
Lethal congenital contracture syndrome 54 tests
Lethal multiple pterygium syndrome4 tests
Lethal osteosclerotic bone dysplasia3 tests
Lethal tight skin contracture syndrome15 tests
Leucine-induced hypoglycemia2 tests
Leukocyte adhesion deficiency type II4 tests
Leukocyte adhesion deficiency, type III2 tests
Leukoencephalopathy with dystonia and motor neuropathy1 test
Leukoencephalopathy with vanishing white matter12 tests
Levy-Hollister syndrome7 tests
Leydig cell hypoplasia, type 12 tests
Li-Fraumeni syndrome15 tests
Li-Fraumeni syndrome 14 tests
Li-Fraumeni syndrome 22 tests
Liddle syndrome 14 tests
Liebenberg syndrome3 tests
Lig4 syndrome2 tests
Limb-girdle muscular dystrophy3 tests
Limb-girdle muscular dystrophy, type 1B15 tests
Limb-girdle muscular dystrophy, type 2A9 tests
Limb-girdle muscular dystrophy, type 2J9 tests
Limb-girdle muscular dystrophy, type 2L11 tests
Limb-girdle muscular dystrophy, type 2Q5 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C114 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C214 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C312 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C414 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C514 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C96 tests
Limb-mammary syndrome3 tests
Linear skin defects with multiple congenital anomalies 17 tests
Lipodystrophy, congenital generalized, type 31 test
Lipodystrophy, congenital generalized, type 44 tests
Lissencephaly 2, X-linked8 tests
Lissencephaly 33 tests
Lissencephaly 43 tests
Lissencephaly due to LIS1 mutation9 tests
Lissencephaly, X-linked8 tests
Loeys-Dietz syndrome2 tests
Loeys-Dietz syndrome 14 tests
Loeys-Dietz syndrome 24 tests
Loeys-Dietz syndrome 34 tests
Loeys-Dietz syndrome 42 tests
Long QT syndrome2 tests
Long QT syndrome 17 tests
Long QT syndrome 104 tests
Long QT syndrome 114 tests
Long QT syndrome 124 tests
Long QT syndrome 132 tests
Long QT syndrome 143 tests
Long QT syndrome 25 tests
Long QT syndrome 311 tests
Long QT syndrome 57 tests
Long QT syndrome 65 tests
Long QT syndrome 911 tests
Long chain fatty acids, defect in transport of1 test
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency3 tests
Low phospholipid associated cholelithiasis1 test
Lowe syndrome3 tests
Lucey-Driscoll syndrome1 test
Lung carcinoma1 test
Lymphangiomyomatosis8 tests
Lymphedema, primary, with myelodysplasia1 test
Lymphoproliferative syndrome 11 test
Lymphoproliferative syndrome 1, X-linked3 tests
Lymphoproliferative syndrome 21 test
Lymphoproliferative syndrome 2, X-linked3 tests
Lynch syndrome1 test
Lynch syndrome I15 tests
Lynch syndrome II7 tests
Lysinuric protein intolerance2 tests
Lysosomal acid lipase deficiency5 tests
MASA syndrome5 tests
MASS syndrome9 tests
MERRF syndrome1 test
METHYLMALONIC ACIDURIA, mut(-) TYPE1 test
METHYLMALONIC ACIDURIA, mut(0) TYPE2 tests
MPDU1-CDG4 tests
MPI-CDG5 tests
MYH-associated polyposis5 tests
MYH7-related late-onset scapuloperoneal muscular dystrophy7 tests
Macrocephaly, macrosomia, facial dysmorphism syndrome2 tests
Macrocephaly/autism syndrome11 tests
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss2 tests
Macular corneal dystrophy2 tests
Macular degeneration, X-linked atrophic11 tests
Macular dystrophy, patterned, 19 tests
Macular dystrophy, vitelliform, adult-onset9 tests
Majeed syndrome2 tests
Male infertility2 tests
Malignant hyperthermia susceptibility2 tests
Malignant hyperthermia, susceptibility to, 13 tests
Malignant melanoma of skin2 tests
Malignant tumor of esophagus4 tests
Malignant tumor of prostate7 tests
Malignant tumor of testis9 tests
Mandibuloacral dysplasia with type A lipodystrophy13 tests
Mandibuloacral dysplasia with type B lipodystrophy6 tests
Maple syrup urine disease4 tests
Maple syrup urine disease type 1B3 tests
Maple syrup urine disease, type 34 tests
Marfan syndrome11 tests
Marinesco-Sjögren syndrome7 tests
Marshall syndrome9 tests
Marshall-Smith syndrome3 tests
Mast syndrome2 tests
Matthew-Wood syndrome4 tests
Maturity-onset diabetes of the young type 44 tests
Maturity-onset diabetes of the young type 62 tests
Maturity-onset diabetes of the young type 72 tests
Maturity-onset diabetes of the young type 92 tests
Maturity-onset diabetes of the young, type 14 tests
Maturity-onset diabetes of the young, type 102 tests
Maturity-onset diabetes of the young, type 112 tests
Maturity-onset diabetes of the young, type 24 tests
Maturity-onset diabetes of the young, type 34 tests
McCune-Albright syndrome4 tests
McKusick-Kaufman syndrome6 tests
Meacham syndrome4 tests
Meckel syndrome type 113 tests
Meckel syndrome type 613 tests
Meckel syndrome type 78 tests
Meckel syndrome type 86 tests
Meckel syndrome, type 102 tests
Meckel syndrome, type 111 test
Meckel syndrome, type 211 tests
Meckel syndrome, type 310 tests
Meckel syndrome, type 419 tests
Meckel syndrome, type 512 tests
Meckel syndrome, type 92 tests
Medium-chain acyl-coenzyme A dehydrogenase deficiency7 tests
Medulloblastoma4 tests
Megaconial type congenital muscular dystrophy2 tests
Megalencephalic leukoencephalopathy with subcortical cysts 11 test
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome, Somatic2 tests
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 12 tests
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 22 tests
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
Meier-Gorlin syndrome 21 test
Meier-Gorlin syndrome 31 test
Meier-Gorlin syndrome 41 test
Meier-Gorlin syndrome 51 test
Melanoma1 test
Melanoma and neural system tumor syndrome2 tests
Melanoma-pancreatic cancer syndrome6 tests
Melnick-Needles syndrome11 tests
Melorheostosis2 tests
Meningioma, familial9 tests
Menkes kinky-hair syndrome5 tests
Mental retardation 17, X-linked3 tests
Mental retardation 3, X-linked1 test
Mental retardation 30, X-linked3 tests
Mental retardation 46, X-linked2 tests
Mental retardation 58, X-linked3 tests
Mental retardation 63, X-linked3 tests
Mental retardation 9, X-linked3 tests
Mental retardation 91, X-linked3 tests
Mental retardation 92, X-linked2 tests
Mental retardation 95, X-linked2 tests
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance10 tests
Mental retardation and microcephaly with pontine and cerebellar hypoplasia8 tests
Mental retardation with language impairment and with or without autistic features4 tests
Mental retardation with panhypopituitarism, X-linked4 tests
Mental retardation, CASK-related, X-linked2 tests
Mental retardation, X-linked 11 test
Mental retardation, X-linked 194 tests
Mental retardation, X-linked 452 tests
Mental retardation, X-linked 725 tests
Mental retardation, X-linked 933 tests
Mental retardation, X-linked 963 tests
Mental retardation, X-linked 981 test
Mental retardation, X-linked, syndromic 101 test
Mental retardation, X-linked, syndromic 136 tests
Mental retardation, X-linked, syndromic 321 test
Mental retardation, X-linked, syndromic, Hedera type6 tests
Mental retardation, X-linked, syndromic, Raymond type3 tests
Mental retardation, X-linked, syndromic, wu type3 tests
Mental retardation, autosomal dominant 17 tests
Mental retardation, autosomal dominant 152 tests
Mental retardation, autosomal dominant 23 tests
Mental retardation, autosomal dominant 61 test
Mental retardation, autosomal recessive 125 tests
Mental retardation, autosomal recessive 152 tests
Mental retardation, autosomal recessive 74 tests
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations9 tests
Mental retardation, syndromic 14, X-linked4 tests
Mental retardation, syndromic, Claes-Jensen type, X-linked5 tests
Mental retardation, with or without seizures, ARX-related, X-linked10 tests
Merosin deficient congenital muscular dystrophy7 tests
Mesothelioma, malignant4 tests
Metabolic syndrome X2 tests
Metachondromatosis9 tests
Metachromatic leukodystrophy7 tests
Metaphyseal anadysplasia 23 tests
Metaphyseal chondrodysplasia, Jansen type3 tests
Metaphyseal chondrodysplasia, Schmid type3 tests
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly3 tests
Metaphyseal dysplasia without hypotrichosis1 test
Metatrophic dysplasia3 tests
Methylcobalamin deficiency type cblG1 test
Methylcrotonyl-CoA carboxylase deficiency3 tests
Methylmalonic acidemia2 tests
Methylmalonic acidemia with homocystinuria cblD3 tests
Methylmalonic aciduria and homocystinuria type cblF2 tests
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency4 tests
Methylmalonic aciduria due to transcobalamin receptor defect1 test
Methylmalonyl-CoA epimerase deficiency2 tests
Mevalonic aciduria4 tests
Microarray Confirmation1 test
Microcephalic osteodysplastic primordial dwarfism type II4 tests
Microcephaly with mental retardation and digital anomalies1 test
Microcephaly, epilepsy, and diabetes syndrome2 tests
Microcephaly, normal intelligence and immunodeficiency3 tests
Microcephaly, short stature, and polymicrogyria with or without seizures3 tests
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma2 tests
Microdeletion syndromes2 tests
Microduplication syndromes2 tests
Microphthalmia with brain and digit anomalies4 tests
Microphthalmia with limb anomalies4 tests
Microphthalmia, isolated 24 tests
Microphthalmia, isolated 54 tests
Microphthalmia, isolated, with coloboma 34 tests
Microphthalmia, isolated, with coloboma 56 tests
Microphthalmia, syndromic 114 tests
Microspherophakia2 tests
Minicore myopathy with external ophthalmoplegia3 tests
Mitchell-Riley syndrome2 tests
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)1 test
Mitochondrial DNA depletion syndrome 4B, MNGIE type8 tests
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)1 test
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)1 test
Mitochondrial DNA depletion syndrome, hepatocerebral form1 test
Mitochondrial DNA-depletion syndrome 3, hepatocerebral1 test
Mitochondrial complex 1 deficiency, nuclear type 282 tests
Mitochondrial complex I deficiency7 tests
Mitochondrial complex II deficiency, nuclear type 13 tests
Mitochondrial complex III deficiency, nuclear type 13 tests
Mitochondrial complex III deficiency, nuclear type 22 tests
Mitochondrial complex III deficiency, nuclear type 32 tests
Mitochondrial complex III deficiency, nuclear type 42 tests
Mitochondrial complex IV deficiency2 tests
Mitochondrial diseases4 tests
Mitochondrial trifunctional protein deficiency4 tests
Miyoshi muscular dystrophy 17 tests
Miyoshi muscular dystrophy 311 tests
Mononeuropathy of the median nerve, mild2 tests
Morbid obesity1 test
Morquio syndrome1 test
Mosaic variegated aneuploidy syndrome 12 tests
Mowat-Wilson syndrome7 tests
Moyamoya disease 54 tests
Moyamoya disease 6 with achalasia1 test
Mucolipidosis III alpha/beta, atypical1 test
Mucolipidosis type II6 tests
Mucolipidosis type III gamma4 tests
Mucolipidosis type IV9 tests
Mucopolysaccharidosis4 tests
Mucopolysaccharidosis type 14 tests
Mucopolysaccharidosis type 610 tests
Mucopolysaccharidosis type 77 tests
Mucopolysaccharidosis, MPS-I-H/S4 tests
Mucopolysaccharidosis, MPS-I-S3 tests
Mucopolysaccharidosis, MPS-II8 tests
Mucopolysaccharidosis, MPS-III-A6 tests
Mucopolysaccharidosis, MPS-III-B5 tests
Mucopolysaccharidosis, MPS-III-C5 tests
Mucopolysaccharidosis, MPS-III-D4 tests
Mucopolysaccharidosis, MPS-IV-A7 tests
Mucopolysaccharidosis, MPS-IV-B6 tests
Muenke syndrome7 tests
Muir-Torré syndrome15 tests
Mulibrey nanism syndrome1 test
Multicentric carpo-tarsal osteolysis with or without nephropathy2 tests
Multicentric osteolysis, nodulosis and arthropathy2 tests
Multiminicore Disease2 tests
Multiple acyl-CoA dehydrogenase deficiency4 tests
Multiple congenital anomalies12 tests
Multiple congenital anomalies-hypotonia-seizures syndrome 22 tests
Multiple congenital exostosis5 tests
Multiple endocrine neoplasia, type 18 tests
Multiple endocrine neoplasia, type 22 tests
Multiple endocrine neoplasia, type 2a14 tests
Multiple endocrine neoplasia, type 2b12 tests
Multiple endocrine neoplasia, type 42 tests
Multiple epiphyseal dysplasia 14 tests
Multiple epiphyseal dysplasia 68 tests
Multiple epiphyseal dysplasia type 44 tests
Multiple epiphyseal dysplasia type 54 tests
Multiple exostoses type 25 tests
Multiple fibrofolliculomas8 tests
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects2 tests
Multiple myeloma1 test
Multiple sulfatase deficiency5 tests
Multiple synostoses syndrome 25 tests
Multisystemic smooth muscle dysfunction syndrome4 tests
Muscle AMP deaminase deficiency7 tests
Muscle eye brain disease14 tests
Muscular dystrophy1 test
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency7 tests
Muscular dystrophy, limb-girdle, type 2R5 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 115 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 102 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 112 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 82 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 92 tests
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 72 tests
Muscular hypotonia1 test
Mutilating keratoderma3 tests
Myasthenia, limb-girdle, familial4 tests
Myasthenic syndrome, slow-channel congenital4 tests
Myhre syndrome3 tests
Myoclonic dystonia 116 tests
Myoclonic epilepsy, familial infantile3 tests
Myofibrillar myopathy2 tests
Myofibrillar myopathy 15 tests
Myofibrillar myopathy 37 tests
Myofibrillar myopathy, BAG3-related4 tests
Myofibrillar myopathy, ZASP-related6 tests
Myofibrillar myopathy, filamin C-related4 tests
Myoglobinuria, acute recurrent, autosomal recessive2 tests
Myokymia 11 test
Myopathy with postural muscle atrophy, X-linked2 tests
Myopathy, centronuclear, 14 tests
Myopathy, centronuclear, 22 tests
Myopathy, distal, 17 tests
Myopathy, distal, 44 tests
Myopathy, distal, with anterior tibial onset5 tests
Myopathy, early-onset, with fatal cardiomyopathy9 tests
Myopathy, myofibrillar, 9, with early respiratory failure9 tests
Myopathy, proximal, and ophthalmoplegia2 tests
Myopathy, reducing body, X-linked, childhood-onset2 tests
Myopathy, reducing body, X-linked, early-onset, severe2 tests
Myopia 62 tests
Myosclerosis, autosomal recessive7 tests
Myosin storage myopathy5 tests
Myotonic dystrophy2 tests
N-terminal acetyltransferase deficiency1 test
NARP syndrome1 test
NDE1-related microhydranencephaly3 tests
NEUROPATHY, HEREDITARY SENSORY, TYPE IC1 test
Namaqualand hip dysplasia10 tests
Nance-Horan syndrome5 tests
Nanophthalmos 24 tests
Nasopharyngeal carcinoma2 tests
Navajo neurohepatopathy1 test
Naxos disease6 tests
Nemaline myopathy2 tests
Nemaline myopathy 15 tests
Nemaline myopathy 28 tests
Nemaline myopathy 35 tests
Nemaline myopathy 45 tests
Nemaline myopathy 55 tests
Nemaline myopathy 72 tests
Neonatal ichthyosis-sclerosing cholangitis syndrome1 test
Neonatal intrahepatic cholestasis caused by citrin deficiency2 tests
Neonatal severe hyperparathyroidism4 tests
Neoplasm of ovary2 tests
Neoplasm of stomach7 tests
Nephroblastoma5 tests
Nephronophthisis 115 tests
Nephronophthisis 1110 tests
Nephronophthisis 126 tests
Nephronophthisis 132 tests
Nephronophthisis 145 tests
Nephronophthisis 151 test
Nephronophthisis 310 tests
Nephronophthisis 410 tests
Nephronophthisis 72 tests
Nephronophthisis 92 tests
Nephronophthisis-like nephropathy 12 tests
Nephropathic cystinosis2 tests
Nephrotic syndrome1 test
Nephrotic syndrome, type 42 tests
Netherton syndrome2 tests
Neuroblastoma 25 tests
Neuroblastoma 34 tests
Neuroblastoma with Hirschsprung disease2 tests
Neurocutaneous melanocytosis2 tests
Neurodegeneration with brain iron accumulation2 tests
Neurodegeneration with brain iron accumulation 2b1 test
Neurodegeneration with brain iron accumulation 51 test
Neurofibromatosis, type 24 tests
Neurogenic scapuloperoneal syndrome, Kaeser type5 tests
Neuronal ceroid lipofuscinosis1 test
Neuronal ceroid lipofuscinosis 110 tests
Neuronal ceroid lipofuscinosis 108 tests
Neuronal ceroid lipofuscinosis 311 tests
Neuronal ceroid lipofuscinosis 4B5 tests
Neuronal ceroid lipofuscinosis 510 tests
Neuronal ceroid lipofuscinosis 69 tests
Neuronal ceroid lipofuscinosis 79 tests
Neuronal ceroid lipofuscinosis 810 tests
Neutropenia, severe congenital 1, autosomal dominant2 tests
Neutrophil immunodeficiency syndrome2 tests
Newfoundland rod-cone dystrophy5 tests
Niemann-Pick disease type C16 tests
Niemann-Pick disease, type A11 tests
Niemann-Pick disease, type B8 tests
Niemann-Pick disease, type C2 tests
Niemann-Pick disease, type C1, adult form2 tests
Niemann-Pick disease, type C1, juvenile form2 tests
Niemann-Pick disease, type C27 tests
Nijmegen breakage syndrome-like disorder3 tests
Non-acquired combined pituitary hormone deficiency with spine abnormalities1 test
Non-ketotic hyperglycinemia1 test
Non-syndromic X-linked intellectual disability4 tests
Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive3 tests
Noonan syndrome4 tests
Noonan syndrome 111 tests
Noonan syndrome 35 tests
Noonan syndrome 46 tests
Noonan syndrome 56 tests
Noonan syndrome 65 tests
Noonan syndrome 77 tests
Noonan syndrome 83 tests
Noonan syndrome with multiple lentigines2 tests
Noonan syndrome-like disorder with loose anagen hair1 test
Noonan syndrome-like disorder with loose anagen hair 12 tests
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia1 test
Norman-Roberts syndrome9 tests
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 13 tests
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 23 tests
Nystagmus 6, congenital, X-linked4 tests
Obesity4 tests
Obesity, hyperphagia, and developmental delay1 test
Obsessive-compulsive disorder3 tests
Ocular albinism, type I4 tests
Ocular albinism, type II6 tests
Ocular cystinosis2 tests
Oculocutaneous albinism type 1B4 tests
Oculocutaneous albinism type 34 tests
Oculocutaneous albinism type 44 tests
Oculofaciocardiodental syndrome7 tests
Oculootoradial syndrome5 tests
Oculopharyngeal muscular dystrophy3 tests
Oculotrichoanal syndrome4 tests
Oguchi disease5 tests
Ohdo syndrome, X-linked10 tests
Opitz GBBB syndrome, type I5 tests
Optic atrophy3 tests
Optic atrophy 36 tests
Optic atrophy 73 tests
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy4 tests
Optic nerve hypoplasia, bilateral7 tests
Ornithine aminotransferase deficiency3 tests
Ornithine carbamoyltransferase deficiency5 tests
Orofacial cleft 114 tests
Orofacial-digital syndrome IV7 tests
Orofaciodigital syndrome I10 tests
Ossification of the posterior longitudinal ligament of the spine5 tests
Osteoarthritis of hip5 tests
Osteogenesis imperfecta type 102 tests
Osteogenesis imperfecta type 122 tests
Osteogenesis imperfecta type 52 tests
Osteogenesis imperfecta type 72 tests
Osteogenesis imperfecta type 82 tests
Osteogenesis imperfecta type 92 tests
Osteogenesis imperfecta type I7 tests
Osteogenesis imperfecta type III7 tests
Osteogenesis imperfecta with normal sclerae, dominant form7 tests
Osteogenesis imperfecta, recessive perinatal lethal7 tests
Osteogenesis imperfecta, type XI2 tests
Osteoglophonic dysplasia5 tests
Osteopetrosis with renal tubular acidosis1 test
Osteopetrosis, autosomal recessive 52 tests
Osteoporosis with pseudoglioma6 tests
Osteosarcoma4 tests
Oto-palato-digital syndrome, type I11 tests
Oto-palato-digital syndrome, type II11 tests
Otofaciocervical syndrome 12 tests
Otopalatodigital Spectrum Disorders2 tests
Otospondylomegaepiphyseal dysplasia, autosomal dominant8 tests
Otospondylomegaepiphyseal dysplasia, autosomal recessive12 tests
Ovarian dysgenesis 12 tests
Ovarian dysgenesis 22 tests
Ovarian dysgenesis 32 tests
Ovarian hyperstimulation syndrome2 tests
PTEN hamartoma tumor syndrome11 tests
PTEN hamartoma tumor syndrome with granular cell tumor4 tests
Paget disease of bone 2, early-onset3 tests
Pallister-Hall syndrome8 tests
Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked1 test
Palmoplantar keratoderma-deafness syndrome2 tests
Pancreatic agenesis 14 tests
Pancreatic agenesis and congenital heart disease2 tests
Pancreatic cancer 22 tests
Pancreatic cancer 31 test
Panhypopituitarism, X-linked2 tests
Papillary thyroid carcinoma5 tests
Paragangliomas 16 tests
Paragangliomas 27 tests
Paragangliomas 37 tests
Paragangliomas 48 tests
Paramyotonia congenita of von Eulenburg4 tests
Parastremmatic dwarfism3 tests
Parathyroid carcinoma2 tests
Parkes Weber syndrome1 test
Parkinson disease 151 test
Parkinson disease 61 test
Parkinsonism with spasticity, X-linked4 tests
Parkinsonism-dystonia, infantile, 11 test
Paroxysmal extreme pain disorder3 tests
Paroxysmal familial ventricular fibrillation 111 tests
Paroxysmal nocturnal hemoglobinuria2 tests
Paroxysmal nonkinesigenic dyskinesia 21 test
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy3 tests
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency2 tests
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome1 test
Partington syndrome8 tests
Paternal uniparental disomy of chromosome 141 test
Pelizaeus-Merzbacher disease5 tests
Pelviscapular dysplasia3 tests
Pena-Shokeir syndrome type I4 tests
Pendred syndrome3 tests
Peripheral neuropathy, myopathy, hoarseness, and hearing loss2 tests
Periventricular nodular heterotopia 112 tests
Permanent neonatal diabetes mellitus6 tests
Peroxisome biogenesis disorder 10A2 tests
Peroxisome biogenesis disorder 11A2 tests
Peroxisome biogenesis disorder 11B2 tests
Peroxisome biogenesis disorder 12A2 tests
Peroxisome biogenesis disorder 13A2 tests
Peroxisome biogenesis disorder 14B