GeneDx, GDX

General information

GeneDx, GDX

207 Perry Parkway
Gaithersburg
Maryland
United States - 20877
http://www.genedx.com/
Organization ID: 26957

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 121912

Gene

GeneSubmissionsLast Updated
A2ML1163Jan 29, 2019
AAAS17Jan 29, 2019
AAGAB1Mar 13, 2019
AARS1124Oct 15, 2019
AARS2115Oct 15, 2019
AASS2Jan 29, 2019
ABAT3Jan 29, 2019
ABCA11Jan 29, 2019
ABCA1238Oct 15, 2019
ABCA135Jan 29, 2019
ABCA37Oct 15, 2019
ABCA4269Oct 15, 2019
ABCB15Apr 12, 2019
ABCB1164Apr 12, 2019
ABCB458Apr 12, 2019
ABCB61Jan 29, 2019
ABCB734Apr 12, 2019
ABCC23Oct 15, 2019
ABCC665Apr 12, 2019
ABCC87Jan 29, 2019
ABCC9230Apr 12, 2019
ABCD135Oct 15, 2019
ABCD462Apr 12, 2019
ABCG54Oct 15, 2019
ABCG84Jan 29, 2019
ABHD1219Oct 15, 2019
ABHD14A-ACY11Jan 29, 2019
ABHD182Apr 12, 2019
ABHD511Apr 12, 2019
ABL11Jan 29, 2019
ABR1Jun 21, 2014
ABRA1Jun 21, 2014
ABRAXAS116Jan 29, 2019
ACACB1Jun 21, 2014
ACAD818Apr 12, 2019
ACAD988Oct 15, 2019
ACADL1Jan 29, 2019
ACADM69Apr 12, 2019
ACADS49Sep 17, 2019
ACADSB3Jan 29, 2019
ACADVL110Oct 15, 2019
ACAN14Oct 15, 2019
ACAT110Jan 29, 2019
ACBD52Mar 13, 2019
ACBD64Jan 29, 2019
ACD2Jan 29, 2019
ACE9Jan 29, 2019
ACMSD1Apr 12, 2019
ACO268Apr 12, 2019
ACOT71Jan 29, 2019
ACOX12Apr 12, 2019
ACSF379Apr 12, 2019
ACSL45Jan 29, 2019
ACTA142Oct 15, 2019
ACTA274Apr 12, 2019
ACTA2-AS125Apr 12, 2019
ACTB71Jan 29, 2019
ACTC192Apr 12, 2019
ACTG1122Jan 29, 2019
ACTG210Jan 29, 2019
ACTN12Jan 29, 2019
ACTN2242Apr 12, 2019
ACTN44Jan 29, 2019
ACVR13Jan 29, 2019
ACVR2B2Mar 26, 2018
ACVRL156Apr 12, 2019
ACY11Jan 29, 2019
ACYP11Nov 28, 2017
ADA19Jan 29, 2019
ADA24Jan 29, 2019
ADAM221Apr 12, 2019
ADAM96Apr 12, 2019
ADAMTS105Apr 12, 2019
ADAMTS135Jan 29, 2019
ADAMTS2173Apr 12, 2019
ADAMTS41Mar 26, 2018
ADAMTSL223Apr 12, 2019
ADAMTSL413Apr 12, 2019
ADAMTSL4-AS25Apr 12, 2019
ADAR15Oct 15, 2019
ADAT37Jan 29, 2019
ADCY11Jan 29, 2019
ADCY101Jan 29, 2019
ADCY21Jun 21, 2014
ADCY527Oct 15, 2019
ADGRG147Apr 12, 2019
ADGRG61Jan 29, 2019
ADGRL31Jul 13, 2016
ADGRV1267Oct 15, 2019
ADIPOQ2Jan 29, 2019
ADIPOQ-AS12Jan 29, 2019
ADNP42Oct 15, 2019
ADNP-AS16Jan 29, 2019
ADRA2A1Mar 26, 2018
ADRB11Mar 26, 2018
ADSL124Apr 12, 2019
ADSS11Mar 26, 2018
AFF220Oct 29, 2020
AFF42Jan 29, 2019
AFG3L268Apr 12, 2019
AGA14Apr 12, 2019
AGAP11Jun 21, 2014
AGBL44Jun 21, 2014
AGK54Apr 12, 2019
AGL113Oct 15, 2019
AGO11Jan 29, 2019
AGPAT24Jan 29, 2019
AGPS25Apr 12, 2019
AGRN106Apr 12, 2019
AGT4Apr 12, 2019
AGTR29Jan 29, 2019
AGXT6Apr 12, 2019
AHCY4Jan 29, 2019
AHDC140Oct 15, 2019
AHI196Oct 15, 2019
AHRR1Jun 21, 2014
AICDA2Jan 29, 2019
AIFM145Apr 12, 2019
AIMP11Jan 29, 2019
AIP5Jan 29, 2019
AIPL16Jan 29, 2019
AIRE26Oct 15, 2019
AK26Jan 29, 2019
AK91Apr 12, 2019
AKAP101Jan 29, 2019
AKAP9120Apr 12, 2019
AKR1D11Jan 29, 2019
AKR1E21Apr 12, 2019
AKT12Mar 26, 2018
AKT330Apr 12, 2019
ALAD4Jan 29, 2019
ALAS252Apr 12, 2019
ALB1Oct 15, 2019
ALDH18A185Apr 12, 2019
ALDH1A37Apr 12, 2019
ALDH1A3-AS16Apr 12, 2019
ALDH1B124Jan 29, 2019
ALDH3A217Mar 13, 2019
ALDH5A114Oct 15, 2019
ALDH7A1196Oct 15, 2019
ALDOA41Jan 29, 2019
ALDOB26Apr 12, 2019
ALG150Apr 12, 2019
ALG1115Jan 29, 2019
ALG124Apr 12, 2019
ALG13135Apr 12, 2019
ALG148Jan 29, 2019
ALG14-AS14Jan 29, 2019
ALG224Apr 12, 2019
ALG319Oct 15, 2019
ALG634Apr 12, 2019
ALG85Jan 29, 2019
ALG934Apr 12, 2019
ALK85Apr 12, 2019
ALMS1337Oct 15, 2019
ALOX12B19Mar 13, 2019
ALOXE310Oct 15, 2019
ALPK3177Oct 15, 2019
ALPL18Jan 29, 2019
ALS213Jan 29, 2019
ALX43Jan 29, 2019
AMACR17Mar 26, 2018
AMD12Jul 27, 2020
AMER110Oct 15, 2019
AMH4Jan 29, 2019
AMHR22Jan 29, 2019
AMMECR12Oct 15, 2019
AMN1Nov 28, 2017
AMPD17Jan 29, 2019
AMPD27Mar 13, 2019
AMT6Oct 15, 2019
ANAPC11Jun 21, 2014
ANAPC154Apr 12, 2019
ANGPT22Jan 29, 2019
ANK14Jan 29, 2019
ANK2402Oct 15, 2019
ANK361Oct 15, 2019
ANKH2Jan 29, 2019
ANKRD171Apr 12, 2019
ANKRD11120Oct 15, 2019
ANKRD267Jan 29, 2019
ANKRD30A1Jun 21, 2014
ANKRD30B2Jun 21, 2014
ANKS1B1Jun 21, 2014
ANKS66Jan 29, 2019
ANO1012Apr 12, 2019
ANO36Jan 29, 2019
ANO5106Apr 12, 2019
ANO62Jan 29, 2019
ANOS124Oct 15, 2019
ANTXR24Jan 29, 2019
AOPEP173Apr 12, 2019
AP1S12Mar 13, 2019
AP1S26Jan 29, 2019
AP2S14Jan 29, 2019
AP3B26Oct 15, 2019
AP4B119Oct 15, 2019
AP4B1-AS114Oct 15, 2019
AP4E148Apr 12, 2019
AP4M131Oct 15, 2019
AP4S110Apr 12, 2019
AP5Z16Oct 15, 2019
APBB12Jan 29, 2019
APC1007Oct 15, 2019
APEX21Apr 12, 2019
APIP4Apr 12, 2019
APOA11Jan 29, 2019
APOA1-AS1Jan 29, 2019
APOA53Jan 29, 2019
APOB133Apr 12, 2019
APOB3'MAR1Jan 29, 2019
APOC21Jan 29, 2019
APOC32Apr 12, 2019
APOC4-APOC21Jan 29, 2019
APOE2Jan 29, 2019
APOO1Jun 21, 2014
APP4Jan 29, 2019
APTX34Jan 29, 2019
AQP21Jan 29, 2019
AR51Oct 15, 2019
ARFGEF119Apr 12, 2019
ARFGEF1-DT4Jan 29, 2019
ARFGEF289Oct 15, 2019
ARG118Apr 12, 2019
ARHGAP211Jan 29, 2019
ARHGAP243Jan 29, 2019
ARHGAP313Jan 29, 2019
ARHGAP331Mar 26, 2018
ARHGAP51Jun 21, 2014
ARHGAP93Jan 29, 2019
ARHGEF106Jan 29, 2019
ARHGEF151Mar 26, 2018
ARHGEF610Jan 29, 2019
ARHGEF946Oct 15, 2019
ARID1A19Jan 29, 2019
ARID1B105Oct 15, 2019
ARID212Oct 15, 2019
ARL13B23Apr 12, 2019
ARL6IP11Mar 13, 2019
ARMC51Jan 29, 2019
ARSA23Oct 15, 2019
ARSB20Apr 12, 2019
ARSL34Apr 12, 2019
ARV12Oct 15, 2019
ARX81Oct 15, 2019
ASAH145Oct 15, 2019
ASB103Apr 12, 2019
ASB182Dec 21, 2016
ASCC34Jan 29, 2019
ASH1L4Oct 15, 2019
ASIC4-AS137Oct 15, 2019
ASL46Apr 12, 2019
ASNS13Oct 15, 2019
ASPA8Jan 29, 2019
ASPH1Jan 29, 2019
ASPM251Oct 15, 2019
ASPN1Jan 29, 2019
ASS159Apr 12, 2019
ASTN230Apr 12, 2019
ASXL127Oct 15, 2019
ASXL24Oct 15, 2019
ASXL346Oct 15, 2019
ATAD3A8Jan 29, 2019
ATF21Jan 29, 2019
ATF61Mar 13, 2019
ATG71Jun 21, 2014
ATL155Apr 12, 2019
ATL33Jan 29, 2019
ATM1868Oct 29, 2020
ATN15Jan 29, 2019
ATP10A3Jan 29, 2019
ATP11C1Jan 29, 2019
ATP13A28Jan 29, 2019
ATP13A42Apr 12, 2019
ATP1A2209Oct 15, 2019
ATP1A337Apr 12, 2019
ATP2A192Oct 15, 2019
ATP2A227Oct 15, 2019
ATP2B27Jan 29, 2019
ATP2B317Jan 29, 2019
ATP2C114Oct 15, 2019
ATP5F1A40Apr 12, 2019
ATP5F1E11Apr 12, 2019
ATP6AP13Apr 12, 2019
ATP6AP251Apr 12, 2019
ATP6V0A293Apr 12, 2019
ATP6V0A46Jan 29, 2019
ATP6V1B131Apr 12, 2019
ATP6V1B1-AS12Mar 26, 2018
ATP6V1B23Jan 29, 2019
ATP6V1E11Jan 29, 2019
ATP7A99Apr 12, 2019
ATP7B141Oct 15, 2019
ATP8A213Jan 29, 2019
ATP8B171Sep 10, 2020
ATPAF230Apr 12, 2019
ATR76Apr 12, 2019
ATRIP16Oct 15, 2019
ATRIP-TREX116Oct 15, 2019
ATRX60Apr 12, 2019
ATXN11Jan 29, 2019
ATXN21Jan 29, 2019
ATXN7L3-AS13Mar 13, 2019
AUH40Apr 12, 2019
AUTS237Oct 15, 2019
AVP2Jan 29, 2019
AVPR24Jan 29, 2019
AXDND11Oct 15, 2019
AXIN2287Apr 12, 2019
B3GALNT250Apr 12, 2019
B3GALT632Apr 12, 2019
B3GAT34Mar 13, 2019
B3GLCT8Oct 15, 2019
B3GNT43Mar 26, 2018
B4GALNT123Oct 15, 2019
B4GALT113Apr 12, 2019
B4GALT1-AS13Jan 29, 2019
B4GALT745Apr 12, 2019
B4GAT124Apr 12, 2019
B9D117Apr 12, 2019
BAG3129Oct 15, 2019
BAG51Apr 12, 2019
BAP171Apr 12, 2019
BARD1388Apr 12, 2019
BBS113Oct 15, 2019
BBS109Oct 15, 2019
BBS122Jan 29, 2019
BBS21Jan 29, 2019
BBS43Jan 29, 2019
BBS53Jan 29, 2019
BBS72Jan 29, 2019
BBS97Jan 29, 2019
BCAP313Mar 13, 2019
BCKDHA55Apr 12, 2019
BCKDHB34Apr 12, 2019
BCKDK3Jan 29, 2019
BCL11A14Oct 15, 2019
BCL11B6Apr 16, 2020
BCL2L2-PABPN13Jan 29, 2019
BCOR29Apr 12, 2019
BCORL119Apr 12, 2019
BCS1L51Apr 12, 2019
BDNF1Mar 26, 2018
BDNF-AS1Mar 26, 2018
BDNF-AS11Mar 26, 2018
BDP152Apr 12, 2019
BEND21Jan 29, 2019
BEST138Oct 15, 2019
BET11Sep 10, 2020
BFSP17Apr 12, 2019
BFSP21Apr 12, 2019
BGN1Oct 15, 2019
BICC13Jan 29, 2019
BICD267Apr 12, 2019
BIN1106Apr 12, 2019
BLK3Nov 28, 2017
BLM73Jan 29, 2019
BLOC1S1-RDH56Apr 12, 2019
BMP136Apr 12, 2019
BMP157Apr 12, 2019
BMP23Mar 13, 2019
BMP46Apr 12, 2019
BMP72Apr 12, 2019
BMPER1Jan 29, 2019
BMPR1A196Oct 15, 2019
BMPR1B4Jan 29, 2019
BMPR223Apr 12, 2019
BOD1L11Jan 29, 2019
BOLA316Apr 12, 2019
BOLA3-AS11Apr 12, 2019
BPNT22Jan 29, 2019
BPTF7Oct 15, 2019
BRAF179Jan 29, 2019
BRAT114Oct 15, 2019
BRCA11444Oct 15, 2019
BRCA22364Jan 7, 2020
BRD41Jan 29, 2019
BRF12Jan 29, 2019
BRIP1523Jul 19, 2019
BRPF19Oct 15, 2019
BRSK21Jan 29, 2019
BRWD11Mar 26, 2018
BRWD326Mar 13, 2019
BSCL257Apr 12, 2019
BSND13Apr 12, 2019
BTD37Jan 29, 2019
BTK36Oct 15, 2019
BTRC1Jan 29, 2019
BUB11Jan 29, 2019
BUB1B1Oct 15, 2019
BUB1B-PAK61Oct 15, 2019
C10orf10529Apr 12, 2019
C11orf65715Oct 29, 2020
C11orf721Apr 12, 2019
C12orf293Jan 29, 2019
C12orf41Jan 29, 2019
C12orf432Apr 12, 2019
C12orf574Mar 13, 2019
C12orf602Jan 29, 2019
C17orf10727Oct 15, 2019
C19orf1217Apr 12, 2019
C1QTNF3-AMACR17Mar 26, 2018
C1QTNF54Oct 15, 2019
C1R1Mar 26, 2018
C2CD319Jan 29, 2019
C37Jan 29, 2019
C3orf801Mar 26, 2018
C61Jan 29, 2019
C73Jan 29, 2019
C8A2Jan 29, 2019
C8B1Jan 29, 2019
C91Feb 15, 2017
C9orf721Jan 29, 2019
CA43Jan 29, 2019
CA5A12Apr 12, 2019
CABP28Oct 15, 2019
CABP42Oct 15, 2019
CACNA1A560Oct 15, 2019
CACNA1C366Apr 12, 2019
CACNA1C-AS179Apr 12, 2019
CACNA1C-AS27Apr 12, 2019
CACNA1D45Apr 12, 2019
CACNA1E13Jan 29, 2019
CACNA1F17Apr 12, 2019
CACNA1G36Jan 29, 2019
CACNA1G-AS11Jan 29, 2019
CACNA1H40Apr 12, 2019
CACNA1S243Apr 12, 2019
CACNA2D1107Apr 12, 2019
CACNA2D1-AS19Apr 12, 2019
CACNA2D24Mar 13, 2019
CACNA2D45Jan 29, 2019
CACNB2119Apr 12, 2019
CACNB441Jan 29, 2019
CAD12Oct 15, 2019
CADM22Jun 21, 2014
CADPS21Jun 21, 2014
CALHM11Jan 29, 2019
CALM129Apr 12, 2019
CALM226Apr 12, 2019
CALM321Apr 12, 2019
CALN12Jun 21, 2014
CALR33Mar 26, 2018
CAMK1D1Jun 21, 2014
CAMK2A1Mar 13, 2019
CAMK2B1Mar 13, 2019
CAMK41Jun 21, 2014
CAMTA121Oct 15, 2019
CAMTA21Jan 29, 2019
CANT13Jan 29, 2019
CAPN14Oct 15, 2019
CAPN101Mar 26, 2018
CAPN21Jun 21, 2014
CAPN3129Oct 15, 2019
CAPN51Jan 29, 2019
CARD118Jan 29, 2019
CARD11-AS11Jan 29, 2019
CARD147Jan 29, 2019
CARMIL21Mar 13, 2019
CARS270Oct 15, 2019
CASD111Oct 15, 2019
CASK78Oct 15, 2019
CASP103Jan 29, 2019
CASQ15Jan 29, 2019
CASQ2106Apr 12, 2019
CASR66Apr 12, 2019
CASTOR31Jan 29, 2019
CASZ13Jun 21, 2014
CATIP-AS24Jan 29, 2019
CATSPER26Jan 29, 2019
CAV16Apr 12, 2019
CAV364Apr 12, 2019
CAVIN439Apr 12, 2019
CBL120Jan 29, 2019
CBR410Jan 29, 2019
CBS196Apr 12, 2019
CC2D1A2Jan 29, 2019
CC2D2A88Oct 15, 2019
CCBE14Jan 29, 2019
CCDC1071Feb 15, 2017
CCDC1403Oct 15, 2019
CCDC1631Apr 12, 2019
CCDC227Jan 29, 2019
CCDC28B1Jan 29, 2019
CCDC398Oct 15, 2019
CCDC401Jan 29, 2019
CCDC5027Apr 12, 2019
CCDC651Jan 29, 2019
CCDC787Jan 29, 2019
CCDC81Jan 29, 2019
CCDC88C10Jan 29, 2019
CCM223Apr 12, 2019
CCN61Oct 15, 2019
CCND212Apr 12, 2019
CCND2-AS13Apr 12, 2019
CCNF1Mar 26, 2018
CCNH34Oct 15, 2019
CCNO1Jan 29, 2019
CCNQ3Jan 29, 2019
CCNT2-AS11Apr 12, 2019
CCT51Jan 29, 2019
CCZ11Jun 21, 2014
CD1648Apr 12, 2019
CD192Jan 29, 2019
CD2473Jan 29, 2019
CD32019Apr 12, 2019
CD362Jan 29, 2019
CD3D4Jan 29, 2019
CD3E3Mar 26, 2018
CD402Mar 26, 2018
CD40LG14Oct 15, 2019
CD79A1Jan 29, 2019
CD79B1Mar 26, 2018
CDAN110Oct 15, 2019
CDC14A18Apr 12, 2019
CDC426Jan 29, 2019
CDC42BPA1Jun 21, 2014
CDC7328Apr 12, 2019
CDCA32Apr 12, 2019
CDH1542Oct 1, 2020
CDH121Jun 21, 2014
CDH1512Jan 29, 2019
CDH23228Oct 15, 2019
CDH23-AS17Apr 12, 2019
CDH311Apr 12, 2019
CDH81Jul 13, 2016
CDHR19Apr 12, 2019
CDK11A1Jan 29, 2019
CDK1314Mar 13, 2019
CDK141Jun 21, 2014
CDK161Jan 29, 2019
CDK193Jul 27, 2020
CDK464Apr 12, 2019
CDK5RAP276Apr 12, 2019
CDKL5238Oct 15, 2019
CDKN1A1Jan 29, 2019
CDKN1B1Jan 29, 2019
CDKN1C2Jan 29, 2019
CDKN2A153Apr 12, 2019
CDKN2B1Jan 29, 2019
CDKN2B-AS11Jan 29, 2019
CDON5Jan 29, 2019
CDSN2Jan 29, 2019
CDT12Jan 29, 2019
CEACAM1619Apr 12, 2019
CEBPA2Jan 29, 2019
CEL1Mar 26, 2018
CELF52Dec 21, 2016
CELF61Mar 26, 2018
CELSR110Jan 29, 2019
CELSR21Jan 29, 2019
CELSR31Mar 26, 2018
CENPE6Jan 29, 2019
CENPF12Oct 15, 2019
CENPJ53Apr 12, 2019
CENPP1Jan 29, 2019
CEP1205Jan 29, 2019
CEP1281Jun 21, 2014
CEP1356Jan 29, 2019
CEP15260Oct 15, 2019
CEP1647Oct 15, 2019
CEP290165Oct 15, 2019
CEP4121Apr 12, 2019
CEP833Jan 29, 2019
CEP85L21Apr 12, 2019
CERKL10Oct 15, 2019
CERS110Jan 29, 2019
CERS32Jan 29, 2019
CERT15Apr 12, 2019
CES11Apr 12, 2019
CETP1Jan 29, 2019
CFAP2991Jun 21, 2014
CFAP4103Oct 15, 2019
CFAP471Jun 21, 2014
CFAP9218Apr 12, 2019
CFC110Jan 29, 2019
CFH4Apr 12, 2019
CFHR53Jan 29, 2019
CFI8Jan 29, 2019
CFL216Apr 12, 2019
CFTR41Jun 14, 2019
CFTR-AS16Apr 12, 2019
CHAMP113Oct 15, 2019
CHAT60Oct 15, 2019
CHCHD105Mar 26, 2018
CHCHD41Apr 12, 2019
CHD12Jan 29, 2019
CHD1L6Jan 29, 2019
CHD2346Oct 15, 2019
CHD33Jan 29, 2019
CHD410Jan 29, 2019
CHD7197Oct 15, 2019
CHD844Nov 14, 2019
CHEK2511Jan 6, 2020
CHKB48Apr 12, 2019
CHKB-CPT1B44Apr 12, 2019
CHKB-DT4Apr 12, 2019
CHL12Mar 26, 2018
CHM32Oct 15, 2019
CHMP1A36Apr 12, 2019
CHMP2B1Jan 29, 2019
CHN12Jan 29, 2019
CHODL1Jun 21, 2014
CHPT11Apr 12, 2019
CHRDL11Jan 29, 2019
CHRM231Apr 12, 2019
CHRNA133Apr 12, 2019
CHRNA2132Apr 12, 2019
CHRNA32Jan 29, 2019
CHRNA4236Apr 12, 2019
CHRNB122Apr 12, 2019
CHRNB294Apr 12, 2019
CHRND21Apr 12, 2019
CHRNE49Oct 15, 2019
CHRNG6Jan 29, 2019
CHST1421Oct 15, 2019
CHST32Jan 29, 2019
CHSY14Apr 12, 2019
CHUK1Jan 29, 2019
CIAPIN13Mar 26, 2018
CIB210Oct 15, 2019
CIC8Oct 15, 2019
CIITA3Jan 29, 2019
CISD23Mar 26, 2018
CIT1Jan 29, 2019
CITED22Apr 12, 2019
CIZ112Apr 12, 2019
CKAP2L5Oct 15, 2019
CLCC14Mar 26, 2018
CLCN1127Oct 15, 2019
CLCN26Mar 13, 2019
CLCN421Jan 29, 2019
CLCN59Oct 15, 2019
CLCN76Oct 15, 2019
CLCNKB4Jan 29, 2019
CLDN11Jan 29, 2019
CLDN1410Apr 12, 2019
CLDN162Jan 29, 2019
CLIC512Apr 12, 2019
CLN3154Oct 15, 2019
CLN598Oct 15, 2019
CLN6111Apr 12, 2019
CLN880Apr 12, 2019
CLP110Apr 12, 2019
CLPB63Apr 12, 2019
CLPP8Apr 12, 2019
CLRN117Apr 12, 2019
CLRN1-AS14Apr 12, 2019
CLTC17Oct 15, 2019
CLTCL14Jan 29, 2019
CLUH2Apr 12, 2019
CNBD11Jun 21, 2014
CNGA16Oct 15, 2019
CNGA37Jan 29, 2019
CNGB115Jan 29, 2019
CNGB316Oct 15, 2019
CNKSR11Jan 29, 2019
CNKSR212Oct 15, 2019
CNNM27Oct 15, 2019
CNNM41Jan 29, 2019
CNOT11Jan 29, 2019
CNOT71Apr 12, 2019
CNTN188Apr 12, 2019
CNTN29Jan 29, 2019
CNTN44Jun 21, 2014
CNTN51Jun 21, 2014
CNTN62Jun 21, 2014
CNTNAP17Oct 15, 2019
CNTNAP2398Oct 15, 2019
COA57Apr 12, 2019
COA615Apr 12, 2019
COA6-AS16Apr 12, 2019
COA825Apr 12, 2019
COASY30Apr 12, 2019
COCH20Apr 12, 2019
COG16Apr 12, 2019
COG21Apr 12, 2019
COG456Nov 20, 2020
COG544Oct 15, 2019
COG636Apr 12, 2019
COG744Apr 12, 2019
COG833Apr 12, 2019
COL10A14Oct 15, 2019
COL11A1238Oct 15, 2019
COL11A2209Oct 15, 2019
COL12A137Mar 13, 2019
COL13A15Jan 29, 2019
COL14A11Jan 29, 2019
COL17A116Oct 15, 2019
COL18A113Jan 29, 2019
COL1A1270Oct 15, 2019
COL1A2197Oct 15, 2019
COL1A2-AS11Mar 26, 2018
COL25A12Jan 29, 2019
COL27A11Jan 29, 2019
COL2A1295Oct 15, 2019
COL3A1316Oct 15, 2019
COL4A166Oct 15, 2019
COL4A245Apr 12, 2019
COL4A2-AS110Apr 12, 2019
COL4A2-AS26Apr 12, 2019
COL4A360Apr 12, 2019
COL4A476Oct 15, 2019
COL4A536Apr 12, 2019
COL4A642Apr 12, 2019
COL5A1773Oct 15, 2019
COL5A2351Apr 12, 2019
COL6A1231Oct 15, 2019
COL6A2251Apr 12, 2019
COL6A3367Apr 12, 2019
COL7A1131Oct 15, 2019
COL9A1147Apr 12, 2019
COL9A2103Oct 15, 2019
COL9A348Apr 12, 2019
COLQ43Apr 12, 2019
COMETT1Apr 12, 2019
COMMD102Jun 21, 2014
COMP20Jan 29, 2019
COMT7Apr 12, 2019
COPA1Jan 29, 2019
COPB24Apr 12, 2019
COQ241Oct 15, 2019
COQ431Apr 12, 2019
COQ640Apr 12, 2019
COQ713Apr 12, 2019
COQ7-DT1Apr 12, 2019
COQ8A99Apr 12, 2019
COQ8B46Apr 12, 2019
COQ935Apr 12, 2019
CORO1A8Jan 29, 2019
COX1050Apr 12, 2019
COX10-AS11Apr 12, 2019
COX144Jan 29, 2019
COX1540Apr 12, 2019
COX181Mar 26, 2018
COX2032Apr 12, 2019
COX4I26Apr 12, 2019
COX6A18Apr 12, 2019
COX6B110Apr 12, 2019
COX7B5Jan 29, 2019
COX8A3Apr 12, 2019
CP9Mar 13, 2019
CPA12Jan 29, 2019
CPA65Jan 29, 2019
CPEB1-AS16Oct 15, 2019
CPLANE1148Oct 15, 2019
CPNE71Jun 21, 2014
CPOX10Jan 29, 2019
CPQ1Mar 26, 2018
CPS1101Apr 12, 2019
CPT1A58Apr 12, 2019
CPT245Oct 15, 2019
CR22Mar 13, 2019
CRB117Mar 13, 2019
CRB28Oct 15, 2019
CRBN2Oct 15, 2019
CREB3L13Jan 29, 2019
CREBBP58Oct 15, 2019
CRELD19Oct 15, 2019
CRLF13Jan 29, 2019
CROCC21Jun 21, 2014
CRPPA64Oct 15, 2019
CRPPA-AS120Apr 12, 2019
CRTAP33Apr 12, 2019
CRX6Jan 29, 2019
CRYAA3Apr 12, 2019
CRYAB27Apr 12, 2019
CRYBA12Apr 12, 2019
CRYBA49Apr 12, 2019
CRYBB11Jan 29, 2019
CRYBB27Apr 12, 2019
CRYBB34Apr 12, 2019
CRYBG11Jun 21, 2014
CRYGB2Apr 12, 2019
CRYGC3Mar 13, 2019
CRYGD3Apr 12, 2019
CRYM11Apr 12, 2019
CSF1R5Jan 29, 2019
CSF3R3Jan 29, 2019
CSMD15Jun 21, 2014
CSMD31Jun 21, 2014
CSNK2A113Oct 15, 2019
CSNK2B4Jan 29, 2019
CSPP166Oct 15, 2019
CSRP362Apr 12, 2019
CSRP3-AS16Mar 26, 2018
CSTA2Oct 15, 2019
CSTB36Apr 12, 2019
CTBP13Jan 29, 2019
CTBP1-AS1Jan 29, 2019
CTC16Jan 29, 2019
CTCF12Jan 29, 2019
CTDP17Apr 12, 2019
CTLA43Jan 29, 2019
CTNNA315Mar 26, 2018
CTNNB136Oct 15, 2019
CTNND11Jan 29, 2019
CTNND211Oct 15, 2019
CTNS9Apr 12, 2019
CTPS12Jan 29, 2019
CTRC5Jan 29, 2019
CTSA10Oct 15, 2019
CTSB1Mar 26, 2018
CTSC7Jan 29, 2019
CTSD141Apr 12, 2019
CTSF5Apr 12, 2019
CTSK1Jan 29, 2019
CUBN21Apr 12, 2019
CUL33Jan 29, 2019
CUL4B37Oct 15, 2019
CUL76Jan 29, 2019
CWF19L15Jan 29, 2019
CXCR42Jan 29, 2019
CYB561D21Jan 29, 2019
CYB5R33Jan 29, 2019
CYBA4Jan 29, 2019
CYBB45Oct 15, 2019
CYC114Apr 12, 2019
CYLD3Oct 15, 2019
CYP11A14Jan 29, 2019
CYP11B13Jan 29, 2019
CYP11B21Mar 26, 2018
CYP17A17Jan 29, 2019
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TARDBP2Jan 29, 2019
TARID3Jan 29, 2019
TARS251Apr 12, 2019
TAT5Mar 13, 2019
TAT-AS12Mar 13, 2019
TATDN111Apr 12, 2019
TAZ52Apr 12, 2019
TBC1D2018Apr 12, 2019
TBC1D24158Oct 15, 2019
TBCD13Oct 15, 2019
TBCE3Jan 29, 2019
TBCEL-TECTA53Apr 12, 2019
TBCK9Oct 15, 2019
TBK18Apr 12, 2019
TBL1XR120Oct 15, 2019
TBR13Oct 15, 2019
TBX128Oct 15, 2019
TBX183Jan 29, 2019
TBX192Jan 29, 2019
TBX203Jan 29, 2019
TBX222Jan 29, 2019
TBX45Oct 15, 2019
TBX536Oct 15, 2019
TBX61Jan 29, 2019
TBXA2R1Jan 29, 2019
TBXAS13Jan 29, 2019
TBXT2Jan 29, 2019
TCAP39Apr 12, 2019
TCF128Oct 15, 2019
TCF2029Nov 20, 2020
TCF4172Oct 15, 2019
TCF4-AS18Apr 12, 2019
TCIRG11Jan 29, 2019
TCN21Jan 29, 2019
TCOF136Oct 15, 2019
TCTN131Apr 12, 2019
TCTN259Apr 12, 2019
TCTN336Apr 12, 2019
TDP21Mar 13, 2019
TDRD75Apr 12, 2019
TECPR269Oct 15, 2019
TECTA53Apr 12, 2019
TEK3Jan 29, 2019
TELO27Jan 29, 2019
TENM321Apr 12, 2019
TERC6Nov 28, 2017
TERT14Jan 29, 2019
TET22Jan 29, 2019
TET2-AS12Jan 29, 2019
TEX111Jun 21, 2014
TFAM12Apr 12, 2019
TFAP2A2Oct 15, 2019
TFAP2B1Jan 29, 2019
TFG32Apr 12, 2019
TFR22Jan 29, 2019
TG15Mar 13, 2019
TGFB11Jan 29, 2019
TGFB273Oct 15, 2019
TGFB2-AS12Apr 12, 2019
TGFB367Oct 15, 2019
TGFBR1107Apr 12, 2019
TGFBR2120Apr 12, 2019
TGIF117Apr 12, 2019
TGM138Oct 15, 2019
TGM59Oct 15, 2019
TGM62Jan 29, 2019
TH11Apr 12, 2019
TH2-LCR3Jan 29, 2019
TH2LCRR7Jan 29, 2019
THADA2Jun 21, 2014
THAP12Oct 15, 2019
THBD1Jan 29, 2019
THPO1Dec 21, 2016
THRB5Jan 29, 2019
TIA12Jan 29, 2019
TIMM4432Jan 29, 2019
TIMM8A5Mar 26, 2018
TINF26Jan 29, 2019
TIPIN4Sep 14, 2018
TJP236Apr 12, 2019
TK249Apr 12, 2019
TKT1Nov 28, 2017
TLK213Oct 15, 2019
TLL12Jan 29, 2019
TM9SF41Jun 21, 2014
TMC119Apr 12, 2019
TMC61Jan 29, 2019
TMCC21Jan 29, 2019
TMCO12Jan 29, 2019
TMCO69Apr 12, 2019
TMEM126A20Apr 12, 2019
TMEM126B6Apr 12, 2019
TMEM12716Apr 12, 2019
TMEM1388Apr 12, 2019
TMEM16513Apr 12, 2019
TMEM1991Apr 12, 2019
TMEM21610Apr 12, 2019
TMEM23137Apr 12, 2019
TMEM23729Apr 12, 2019
TMEM2404Jan 29, 2019
TMEM255A1Dec 21, 2016
TMEM38B7Apr 12, 2019
TMEM43101Apr 12, 2019
TMEM6751Apr 12, 2019
TMEM7029Oct 15, 2019
TMEM941Oct 15, 2019
TMEM998Apr 12, 2019
TMIE6Oct 15, 2019
TMLHE7Jan 29, 2019
TMPO74Apr 12, 2019
TMPO-AS112Apr 12, 2019
TMPPE1Dec 21, 2016
TMPRSS151Jan 29, 2019
TMPRSS323Apr 12, 2019
TMPRSS523Apr 12, 2019
TMPRSS62Jan 29, 2019
TMTC22Jun 21, 2014
TMTC32Jan 29, 2019
TMX2-CTNND11Jan 29, 2019
TNFAIP33Jan 29, 2019
TNFRSF11A4Oct 15, 2019
TNFRSF13B8Oct 15, 2019
TNFRSF13C1Mar 26, 2018
TNFRSF1A48Apr 12, 2019
TNFSF121Mar 26, 2018
TNFSF12-TNFSF131Mar 26, 2018
TNK22Jan 29, 2019
TNNC138Apr 12, 2019
TNNI221Apr 12, 2019
TNNI3112Apr 12, 2019
TNNT142Apr 12, 2019
TNNT2164Apr 12, 2019
TNNT33Jan 29, 2019
TNPO370Apr 12, 2019
TNXB26Oct 15, 2019
TOE114Jan 29, 2019
TOP3A1Oct 15, 2019
TOPBP11Apr 12, 2019
TOPORS5Jan 29, 2019
TOR1A4Jan 29, 2019
TOR1AIP11Oct 15, 2019
TP53364Oct 15, 2019
TP53BP11Jan 29, 2019
TP6330Mar 13, 2019
TPK125Oct 15, 2019
TPM1136Apr 12, 2019
TPM1-AS11Apr 12, 2019
TPM238Apr 12, 2019
TPM320Apr 12, 2019
TPMT2Apr 12, 2019
TPO11Oct 15, 2019
TPP1155Apr 12, 2019
TPRN24Oct 15, 2019
TPTE22Jun 21, 2014
TRA1Jun 21, 2014
TRAF3IP11Jan 29, 2019
TRAP13Jan 29, 2019
TRAPPC1114Oct 15, 2019
TRAPPC21Jan 29, 2019
TRAPPC914Oct 15, 2019
TRB4Jan 29, 2019
TRDN149Apr 12, 2019
TRDN-AS16Apr 12, 2019
TRERF11Apr 12, 2019
TREX116Oct 15, 2019
TRIM3228Apr 12, 2019
TRIM373Oct 15, 2019
TRIM581Jun 21, 2014
TRIM59-IFT806Jan 29, 2019
TRIM631Dec 21, 2016
TRIO12Oct 15, 2019
TRIOBP62Oct 15, 2019
TRIP1171Apr 12, 2019
TRIP129Oct 15, 2019
TRIP43Oct 15, 2019
TRIT15Apr 12, 2019
TRMT10C2Apr 12, 2019
TRMU74Apr 12, 2019
TRNT147Oct 15, 2019
TROAP-AS11Nov 28, 2017
TRPM18Apr 12, 2019
TRPM31Jan 29, 2019
TRPM4128Apr 12, 2019
TRPM62Jan 29, 2019
TRPS111Oct 15, 2019
TRPV32Jan 29, 2019
TRPV4164Apr 12, 2019
TRPV61Oct 15, 2019
TRRAP1Jan 29, 2019
TSC1349Oct 15, 2019
TSC21023Oct 29, 2020
TSEN228Apr 12, 2019
TSEN3419Apr 12, 2019
TSEN5442Oct 15, 2019
TSFM25Apr 12, 2019
TSHB1Jan 29, 2019
TSHR6Jan 29, 2019
TSNAX-DISC11Jun 21, 2014
TSPAN147Apr 12, 2019
TSPAN123Jan 29, 2019
TSPAN3126Apr 12, 2019
TSPEAR26Oct 15, 2019
TSPEAR-AS14Oct 15, 2019
TSR21Jan 29, 2019
TTBK21Jan 29, 2019
TTC1961Apr 12, 2019
TTC21B79Apr 12, 2019
TTC21B-AS113Apr 12, 2019
TTC344Jun 21, 2014
TTC375Oct 15, 2019
TTC7A6Mar 13, 2019
TTC81Jan 29, 2019
TTLL56Oct 15, 2019
TTN4662Oct 15, 2019
TTN-AS12516Oct 15, 2019
TTPA2Oct 15, 2019
TTR52Apr 12, 2019
TUBA1A53Jan 29, 2019
TUBA3E1Mar 26, 2018
TUBA4A1Oct 15, 2019
TUBA819Apr 12, 2019
TUBB10Apr 12, 2019
TUBB12Jan 29, 2019
TUBB2A25Apr 12, 2019
TUBB2B25Apr 12, 2019
TUBB348Apr 12, 2019
TUBB4A26Apr 12, 2019
TUBB68Apr 12, 2019
TUBG122Apr 12, 2019
TUBGCP46Jan 29, 2019
TUBGCP615Oct 15, 2019
TUFM32Apr 12, 2019
TULP14Jan 29, 2019
TUSC35Apr 12, 2019
TWIST16Oct 15, 2019
TWNK60Apr 12, 2019
TXNL4A1Jan 29, 2019
TXNRD2141Apr 12, 2019
TYK269Apr 12, 2019
TYMP76Oct 15, 2019
TYR23Oct 15, 2019
TYRP13Jan 29, 2019
UBA150Apr 12, 2019
UBA26Sep 23, 2020
UBA53Jan 29, 2019
UBE2A4Jan 29, 2019
UBE2G21Dec 21, 2016
UBE3A122Oct 15, 2019
UBE3B6Oct 15, 2019
UBQLN41Apr 12, 2019
UBR17Jan 29, 2019
UBTF3Mar 13, 2019
UCP31Jan 29, 2019
UGGT21Jun 21, 2014
UGT1A3Jan 29, 2019
UGT1A13Jan 29, 2019
UGT1A103Jan 29, 2019
UGT1A33Jan 29, 2019
UGT1A43Jan 29, 2019
UGT1A53Jan 29, 2019
UGT1A63Jan 29, 2019
UGT1A73Jan 29, 2019
UGT1A83Jan 29, 2019
UGT1A93Jan 29, 2019
UGT81Jan 29, 2019
ULK41Jun 21, 2014
UMOD6Jan 29, 2019
UMPS2Mar 13, 2019
UNC13D10Mar 13, 2019
UNC45B4Apr 12, 2019
UNC501Apr 12, 2019
UNC5B1Jan 29, 2019
UNC8012Jan 29, 2019
UNG1Jan 29, 2019
UPB14Jan 29, 2019
UPF3B21Apr 12, 2019
UPK3A3Jan 29, 2019
UPRT2Jun 21, 2014
UQCC215Apr 12, 2019
UQCC38Apr 12, 2019
UQCRB16Apr 12, 2019
UQCRC221Apr 12, 2019
UQCRQ15Apr 12, 2019
UROC11Jan 29, 2019
UROD1Jan 29, 2019
USH1C69Oct 15, 2019
USH1G12Apr 12, 2019
USH2A245Nov 19, 2019
USH2A-AS117Oct 15, 2019
USH2A-AS214Apr 12, 2019
USP341Apr 12, 2019
USP9X24Apr 12, 2019
UTP14C7Jan 29, 2019
UTRN3Mar 26, 2018
VAC141Jan 29, 2019
VAMP12Jan 29, 2019
VAMP25Jun 24, 2020
VANGL12Jan 29, 2019
VANGL22Jan 29, 2019
VAPB1Mar 26, 2018
VARS11Apr 12, 2019
VARS286Apr 12, 2019
VCL154Apr 12, 2019
VCP13Jan 29, 2019
VDR2Jan 29, 2019
VEGFA1Jun 21, 2014
VEGFC2Jan 29, 2019
VHL143Apr 12, 2019
VIL11Mar 26, 2018
VIM1Apr 12, 2019
VKORC16Apr 12, 2019
VLDLR57Apr 12, 2019
VLDLR-AS110Apr 12, 2019
VMA211Mar 26, 2018
VPS13A11Mar 13, 2019
VPS13B83Oct 15, 2019
VPS33A1Apr 12, 2019
VPS33B4Jan 29, 2019
VPS352Jan 29, 2019
VPS37A24Apr 12, 2019
VPS451Jan 29, 2019
VPS5357Oct 15, 2019
VRK140Apr 12, 2019
VRK23Jan 29, 2019
VSX11Jan 29, 2019
VSX24Apr 12, 2019
VWF24Apr 12, 2019
WAC28Oct 15, 2019
WAS26Oct 15, 2019
WASHC549Apr 12, 2019
WASHC5-AS13Mar 26, 2018
WDR111Jan 29, 2019
WDR1911Oct 15, 2019
WDR264Oct 15, 2019
WDR3514Apr 12, 2019
WDR362Apr 12, 2019
WDR4565Apr 12, 2019
WDR62126Oct 15, 2019
WDR724Jan 29, 2019
WDR7310Oct 15, 2019
WDR8110Apr 12, 2019
WDR8715Apr 12, 2019
WFDC31Jun 21, 2014
WFS1256Apr 12, 2019
WHRN36Apr 12, 2019
WNK149Apr 12, 2019
WNK31Jan 29, 2019
WNK41Mar 26, 2018
WNT18Apr 12, 2019
WNT10A18Mar 13, 2019
WNT10B2Apr 12, 2019
WNT2B2Nov 10, 2020
WNT31Mar 26, 2018
WNT5A1Jan 29, 2019
WNT7A1Jan 29, 2019
WRAP538Jan 29, 2019
WRN10Apr 12, 2019
WT129Apr 12, 2019
WT1-AS1Apr 12, 2019
WWC31Jun 21, 2014
WWOX178Apr 12, 2019
XAB21Apr 12, 2019
XIAP1Jan 29, 2019
XIST1Jun 21, 2014
XKR31Jun 21, 2014
XPA5Jan 29, 2019
XPC1Jan 29, 2019
XPNPEP22Mar 26, 2018
XPR11Jan 29, 2019
XRCC2120Apr 12, 2019
XRCC41Jan 29, 2019
XYLT15Apr 12, 2019
XYLT21Jan 29, 2019
YARS142Apr 12, 2019
YARS286Apr 12, 2019
YWHAE2Jul 13, 2016
YY13Oct 15, 2019
ZAN1Mar 26, 2018
ZAP7013Jan 29, 2019
ZBTB188Oct 15, 2019
ZBTB207Nov 20, 2020
ZBTB20-AS11Jan 29, 2019
ZBTB241Jan 29, 2019
ZBTB331Dec 21, 2016
ZC4H214Oct 15, 2019
ZDHHC142Jun 21, 2014
ZDHHC249Oct 15, 2019
ZDHHC96Jan 29, 2019
ZEB14Oct 15, 2019
ZEB1-AS11Jan 29, 2019
ZEB2223Nov 19, 2019
ZEB2-AS11Mar 26, 2018
ZFHX31Jun 21, 2014
ZFHX41Jan 29, 2019
ZFPM25Oct 15, 2019
ZFPM2-AS15Oct 15, 2019
ZFYVE2688Oct 15, 2019
ZFYVE271Jan 29, 2019
ZIC14Oct 15, 2019
ZIC212Oct 15, 2019
ZIC34Jan 29, 2019
ZMPSTE245Oct 15, 2019
ZMYM31Mar 26, 2018
ZMYND1114Jan 29, 2019
ZNF2764Jan 29, 2019
ZNF2921Jan 29, 2019
ZNF3353Oct 15, 2019
ZNF385D2Jun 21, 2014
ZNF4075Sep 4, 2019
ZNF4083Oct 15, 2019
ZNF4236Jan 29, 2019
ZNF4627Oct 15, 2019
ZNF469330Oct 15, 2019
ZNF6441Jan 29, 2019
ZNF7117Jan 29, 2019
ZNF831Jul 13, 2016
ZRANB36Jan 29, 2019
ZRS3Apr 12, 2019
ZSCAN251Apr 12, 2019
ZSWIM64Mar 13, 2019
ZSWIM77Apr 12, 2019

Testing in GTR

Disease nameNumber of tests
13q partial monosomy syndrome1 test
2q24 microdeletion syndrome1 test
3-Methylglutaconic aciduria type 11 test
3-Methylglutaconic aciduria type 22 tests
3-Methylglutaconic aciduria type 31 test
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1 test
46,XX sex reversal 41 test
46,XX sex reversal, type 12 tests
46,XY disorder of sex development and 46,XY complete gonadal dysgenesis1 test
46,XY gonadal dysgenesis, partial, with minifascicular neuropathy1 test
46,XY sex reversal, type 12 tests
46,XY sex reversal, type 32 tests
46,XY sex reversal, type 61 test
46,XY sex reversal, type 71 test
8p23.1 microdeletion syndrome1 test
ABCD syndrome1 test
ADULT syndrome3 tests
Abnormal pyramidal signs1 test
Abnormality of lipid metabolism3 tests
Abnormality of the thorax1 test
Achondrogenesis2 tests
Achondroplasia2 tests
Achromatopsia1 test
Acrocallosal syndrome1 test
Acrocephalosyndactyly type I1 test
Acrodysostosis 1 with or without hormone resistance1 test
Acute myeloid leukemia1 test
Acute neuronopathic Gaucher's disease1 test
Adams-Oliver syndrome3 tests
Adducted thumb1 test
Adenylosuccinate lyase deficiency3 tests
Adrenoleukodystrophy2 tests
Adult polyglucosan body disease1 test
Age-related macular degeneration 51 test
Aicardi Goutieres syndrome2 tests
Albinism, ocular, with sensorineural deafness1 test
Alexander Disease2 tests
Alport syndrome1 test
Alstrom syndrome1 test
Alternating hemiplegia of childhood 21 test
Aminoglycoside-induced deafness4 tests
Amyloidogenic transthyretin amyloidosis1 test
Amyotonia congenita1 test
Amyotrophic lateral sclerosis3 tests
Anauxetic dysplasia 12 tests
Andersen Tawil syndrome1 test
Androgen resistance syndrome1 test
Angelman syndrome4 tests
Angelman syndrome-like4 tests
Aniridia 11 test
Anophthalmia/microphthalmia-esophageal atresia syndrome2 tests
Anteverted nares1 test
Antley-Bixler syndrome1 test
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis1 test
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis1 test
Aplastic anemia1 test
Arginase deficiency2 tests
Argininosuccinate lyase deficiency1 test
Arrhythmogenic right ventricular cardiomyopathy7 tests
Arrhythmogenic right ventricular dysplasia, familial 11 test
Arterial tortuosity syndrome3 tests
Arthrogryposis multiplex congenita1 test
Arthrogryposis, renal dysfunction, and cholestasis 11 test
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome1 test
Arts syndrome1 test
Aspartylglucosaminuria1 test
Ataxia2 tests
Ataxia-telangiectasia syndrome10 tests
Atrophia bulborum hereditaria1 test
Attenuated familial adenomatous polyposis9 tests
Atypical Rett syndrome6 tests
Autism spectrum disorder3 tests
Autism, susceptibility to, X-linked 41 test
Autoimmune lymphoproliferative syndrome1 test
Autoimmune lymphoproliferative syndrome type 2B1 test
Autosomal dominant hypophosphatemic rickets1 test
Autosomal dominant nocturnal frontal lobe epilepsy1 test
Autosomal dominant retinitis pigmentosa1 test
Autosomal dominant torsion dystonia 41 test
Autosomal recessive DOPA responsive dystonia1 test
Autosomal recessive axonal neuropathy with neuromyotonia1 test
Autosomal recessive multiple pterygium syndrome1 test
Autosomal recessive polycystic kidney disease2 tests
Autosomal recessive retinitis pigmentosa1 test
Azorean disease2 tests
BCC12 tests
BH4-deficient hyperphenylalaninemia A1 test
Bannayan-Riley-Ruvalcaba syndrome7 tests
Baraitser-Winter syndrome1 test
Bardet-Biedl syndrome1 test
Bartter syndrome2 tests
Beare-Stevenson cutis gyrata syndrome1 test
Becker muscular dystrophy1 test
Benign familial neonatal seizures4 tests
Bent bone dysplasia syndrome1 test
Bethlem myopathy 11 test
Biotin-responsive basal ganglia disease2 tests
Biotinidase deficiency2 tests
Blepharophimosis - intellectual disability syndrome, SBBYS type1 test
Bosch-Boonstra-Schaaf optic atrophy syndrome2 tests
Brachycephaly1 test
Brachyrachia (short spine dysplasia)1 test
Brain malformation2 tests
Brain malformations and urinary tract defects1 test
Branchiooculofacial syndrome1 test
Branchiootic syndrome 11 test
Branchiootic syndrome 31 test
Branchiootorenal Syndrome 12 tests
Breast and colorectal cancer, susceptibility to6 tests
Breast and/or ovarian cancer6 tests
Breast cancer, early-onset15 tests
Breast cancer, familial male15 tests
Breast cancer, lobular6 tests
Breast cancer, susceptibility to15 tests
Breast neoplasm6 tests
Breast-ovarian cancer, familial 117 tests
Breast-ovarian cancer, familial 217 tests
Breast-ovarian cancer, familial 41 test
Brittle cornea syndrome 12 tests
Brown-Vialetto-Van Laere syndrome1 test
Bruck syndrome1 test
Bruck syndrome 21 test
Brugada syndrome6 tests
Bulbous nose1 test
Bullous ichthyosiform erythroderma1 test
CARASIL1 test
CDC73-Related Disorders1 test
CHARGE association4 tests
CHROMOSOME 1qter DELETION SYNDROME1 test
CK syndrome1 test
Calcaneovalgus deformity1 test
Camptodactyly1 test
Camptomelic dysplasia1 test
Carcinoma of colon6 tests
Carcinoma of pancreas12 tests
Cardio-facio-cutaneous syndrome2 tests
Cardiofaciocutaneous syndrome 11 test
Cardiomyopathy1 test
Cardiomyopathy, left ventricular noncompaction5 tests
Carney complex, type 11 test
Carney-Stratakis syndrome3 tests
Carnitine acylcarnitine translocase deficiency1 test
Carnitine palmitoyltransferase 1A deficiency1 test
Cataract (disease)1 test
Catecholaminergic polymorphic ventricular tachycardia4 tests
Cenani-Lenz syndactyly syndrome2 tests
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome1 test
Cerebellar atrophy1 test
Cerebral atrophy1 test
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 11 test
Cerebral creatine deficiency syndrome3 tests
Cerebral folate transport deficiency4 tests
Cerebrooculofacioskeletal syndrome 11 test
Ceroid lipofuscinosis neuronal 22 tests
Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant1 test
Charcot-Marie-Tooth disease4 tests
Charcot-Marie-Tooth disease axonal type 2C1 test
Charcot-Marie-Tooth disease dominant intermediate d1 test
Charcot-Marie-Tooth disease type 2I1 test
Charcot-Marie-Tooth disease type 2J1 test
Charcot-Marie-Tooth disease, X-linked recessive, type 51 test
Charcot-Marie-Tooth disease, demyelinating, type 1b1 test
Charcot-Marie-Tooth disease, demyelinating, type 1d1 test
Child syndrome4 tests
Cholestanol storage disease3 tests
Chondrodysplasia punctata2 tests
Choroideremia2 tests
Chromosome 1, deletion q21 q251 test
Chromosome 1, duplication 1p21 p321 test
Chromosome 1, monosomy 1p22 p131 test
Chromosome 1, monosomy 1p31 p221 test
Chromosome 1, monosomy 1p321 test
Chromosome 1, monosomy 1p34 p321 test
Chromosome 1, monosomy 1q25 q321 test
Chromosome 1, monosomy 1q32 q421 test
Chromosome 1, trisomy 1q32 qter1 test
Chromosome 1, trisomy 1q42-qter1 test
Chromosome 1, uniparental disomy 1q12 q211 test
Chromosome 10, distal trisomy 10q1 test
Chromosome 10, trisomy 10pter p131 test
Chromosome 10q22.3-q23.2 deletion syndrome1 test
Chromosome 10q26 deletion syndrome1 test
Chromosome 11, deletion 11p1 test
Chromosome 11, partial trisomy 11q1 test
Chromosome 11;14 translocation1 test
Chromosome 11p, partial deletion1 test
Chromosome 11q trisomy1 test
Chromosome 12p deletion1 test
Chromosome 13, partial monosomy 13q1 test
Chromosome 13p duplication1 test
Chromosome 13q deletion1 test
Chromosome 13q-mosaicism1 test
Chromosome 14 deletion1 test
Chromosome 14 trisomy1 test
Chromosome 14, deletion 14q, partial duplication 14p1 test
Chromosome 14;16 translocation1 test
Chromosome 14q, partial deletions1 test
Chromosome 14q, proximal duplication1 test
Chromosome 14q11-q22 deletion syndrome1 test
Chromosome 15, distal trisomy 15q1 test
Chromosome 15q duplication mosaicism1 test
Chromosome 15q, partial deletion1 test
Chromosome 15q, tetrasomy1 test
Chromosome 15q11-q13 duplication syndrome1 test
Chromosome 15q11.2 deletion syndrome1 test
Chromosome 15q11.2 duplication syndrome1 test
Chromosome 15q25 deletion syndrome1 test
Chromosome 15q26-qter deletion syndrome1 test
Chromosome 16 inversion, 0.45-mb1 test
Chromosome 16, trisomy1 test
Chromosome 16, uniparental disomy1 test
Chromosome 16p11.2 deletion syndrome, 220 kb1 test
Chromosome 16p11.2 duplication syndrome1 test
Chromosome 16p12.1 deletion syndrome, 520kb1 test
Chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-MB1 test
Chromosome 16p13.3 duplication syndrome1 test
Chromosome 16q22 deletion syndrome1 test
Chromosome 17, deletion 17q23 q241 test
Chromosome 17p deletion1 test
Chromosome 17p13.1 deletion syndrome1 test
Chromosome 17p13.3, centromeric, duplication syndrome1 test
Chromosome 17q11.2 deletion syndrome, 1.4 MB1 test
Chromosome 17q12 deletion syndrome1 test
Chromosome 17q12 duplication syndrome1 test
Chromosome 17q21.31 duplication syndrome1 test
Chromosome 17q23.1-q23.2 deletion syndrome1 test
Chromosome 17q23.1-q23.2 duplication syndrome1 test
Chromosome 18 mosaic monosomy1 test
Chromosome 18 pericentric inversion1 test
Chromosome 19 ring syndrome1 test
Chromosome 19p13.13 deletion syndrome1 test
Chromosome 19q13.11 deletion syndrome1 test
Chromosome 1p36 deletion syndrome1 test
Chromosome 1q deletion1 test
Chromosome 1q, duplication 1q12 q211 test
Chromosome 1q21.1 duplication syndrome1 test
Chromosome 2, monosomy 2p221 test
Chromosome 2, monosomy 2pter p241 test
Chromosome 2, trisomy 2pter p241 test
Chromosome 2, trisomy 2q371 test
Chromosome 21, monosomy 21q221 test
Chromosome 21, tetrasomy 21q1 test
Chromosome 21, uniparental disomy of1 test
Chromosome 22, monosome mosaic1 test
Chromosome 22, trisomy q11 q131 test
Chromosome 22q deletion1 test
Chromosome 22q11.2 deletion syndrome, distal1 test
Chromosome 22q13 duplication syndrome1 test
Chromosome 2p12-p11.2 deletion syndrome1 test
Chromosome 2q23.1 deletion syndrome1 test
Chromosome 2q23.1 duplication syndrome1 test
Chromosome 2q31.1 duplication syndrome1 test
Chromosome 2q31.2 deletion syndrome1 test
Chromosome 2q32-q33 deletion syndrome1 test
Chromosome 2q37 deletion syndrome1 test
Chromosome 3 duplication syndrome1 test
Chromosome 3, monosomy 3p1 test
Chromosome 3, monosomy 3p14 p111 test
Chromosome 3, monosomy 3q131 test
Chromosome 3, monosomy 3q21 231 test
Chromosome 3, monosomy 3q271 test
Chromosome 3, trisomy 3p251 test
Chromosome 3, trisomy 3q13 2 q251 test
Chromosome 3pter-p25 deletion syndrome1 test
Chromosome 3q13.31 deletion syndrome1 test
Chromosome 3q29 microduplication syndrome1 test
Chromosome 4 short arm deletion1 test
Chromosome 4, Trisomy 4p1 test
Chromosome 4, monosomy 4p14 p161 test
Chromosome 4, monosomy 4q321 test
Chromosome 4, monosomy distal 4q1 test
Chromosome 4, partial trisomy distal 4q1 test
Chromosome 4, trisomy 4q211 test
Chromosome 4, trisomy 4q25 qter1 test
Chromosome 4q21 deletion syndrome1 test
Chromosome 4q32.1-q32.2 triplication syndrome1 test
Chromosome 5, trisomy 5pter p13 31 test
Chromosome 5, uniparental disomy1 test
Chromosome 5p13 duplication syndrome1 test
Chromosome 5q12 deletion syndrome1 test
Chromosome 5q14.3 deletion syndrome1 test
Chromosome 6, deletion 6q13 q151 test
Chromosome 6, monosomy 6p231 test
Chromosome 6, monosomy 6q11 test
Chromosome 6, monosomy 6q21 test
Chromosome 6pter-p24 deletion syndrome1 test
Chromosome 6q24-q25 deletion syndrome1 test
Chromosome 7, monosomy1 test
Chromosome 7, monosomy 7q21 test
Chromosome 7, monosomy 7q211 test
Chromosome 7, monosomy 7q31 test
Chromosome 7, partial monosomy 7p1 test
Chromosome 7, trisomy 7p13 p12 21 test
Chromosome 7q11.23 deletion syndrome, distal, 1.2-mb1 test
Chromosome 8, monosomy 8p1 test
Chromosome 8, monosomy 8p21 test
Chromosome 8, mosaic trisomy1 test
Chromosome 8, partial trisomy1 test
Chromosome 8-derived supernumerary ring/marker1 test
Chromosome 8p11 myeloproliferative syndrome1 test
Chromosome 8q21.11 deletion syndrome1 test
Chromosome 9 translocation1 test
Chromosome 9, deletion 9q21.33q22.321 test
Chromosome 9, duplication 9q211 test
Chromosome 9, trisomy 9p1 test
Chromosome 9, trisomy 9q1 test
Chromosome 9, trisomy 9q321 test
Chromosome 9p deletion syndrome1 test
Chromosome 9q duplication1 test
Chromosome Xp11.3 deletion syndrome1 test
Chromosome Xp21 deletion syndrome1 test
Chromosome Xq26.3 duplication syndrome1 test
Chromosome Xq27.3-q28 duplication syndrome1 test
Chromosome Xq28 deletion syndrome1 test
Chromosomes 1 and 2, monosomy 2q duplication 1p1 test
Chronic infantile neurological, cutaneous and articular syndrome3 tests
Chudley-McCullough syndrome1 test
Ciliopathy2 tests
Citrullinemia type I1 test
Citrullinemia type II1 test
Classic homocystinuria3 tests
Clear cell carcinoma of kidney1 test
Cleft palate1 test
Clubfoot1 test
Cobalamin C disease1 test
Cockayne syndrome1 test
Cockayne syndrome B1 test
Coenzyme Q10 deficiency, primary3 tests
Coffin-Siris syndrome3 tests
Coffin-Siris syndrome 11 test
Coffin-Siris syndrome 51 test
Colorectal cancer4 tests
Colorectal cancer, susceptibility to, 124 tests
Combined malonic and methylmalonic aciduria1 test
Combined oxidative phosphorylation deficiency2 tests
Combined oxidative phosphorylation deficiency 11 test
Combined saposin deficiency1 test
Complex V deficiency3 tests
Cone-rod dystrophy1 test
Cone-rod dystrophy 21 test
Congenital adrenal hypoplasia, X-linked1 test
Congenital bilateral aplasia of vas deferens from CFTR mutation1 test
Congenital cataracts, hearing loss, and neurodegeneration1 test
Congenital cerebellar hypoplasia2 tests
Congenital contractural arachnodactyly4 tests
Congenital contracture1 test
Congenital contractures of the limbs and face, hypotonia, and developmental delay1 test
Congenital hypomyelinating neuropathy 1, autosomal recessive1 test
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies1 test
Congenital muscular dystrophy with hyperlaxity1 test
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B41 test
Congenital muscular hypertrophy-cerebral syndrome1 test
Congenital myasthenic syndrome1 test
Congenital myasthenic syndrome 121 test
Congenital myasthenic syndrome 131 test
Congenital myasthenic syndrome 1B, fast-channel1 test
Congenital myasthenic syndrome 4C1 test
Congenital myasthenic syndrome, acetazolamide-responsive1 test
Congenital myopathy with fiber type disproportion1 test
Congenital myotonia, autosomal dominant form1 test
Congenital myotonia, autosomal recessive form1 test
Congenital ocular coloboma1 test
Constipation1 test
Cornelia de Lange syndrome 12 tests
Cornelia de Lange syndrome 31 test
Cornelia de Lange syndrome 41 test
Cornelia de Lange syndrome 51 test
Cortical dysplasia, complex, with other brain malformations 12 tests
Cortical malformations, occipital2 tests
Costello syndrome2 tests
Cowden syndrome8 tests
Cowden syndrome 16 tests
Craniometaphyseal dysplasia1 test
Craniosynostosis 11 test
Crouzon syndrome1 test
Cryptorchidism1 test
Cutaneous malignant melanoma 12 tests
Cutaneous malignant melanoma 23 tests
Cutaneous malignant melanoma 33 tests
Cutaneous malignant melanoma 81 test
Cutis laxa2 tests
Cyclic neutropenia1 test
Cyclical neutropenia1 test
Cystic fibrosis1 test
DE SANCTIS-CACCHIONE SYNDROME1 test
DFNA6/14/38 Nonsyndromic Low-Frequency Sensorineural Hearing Loss2 tests
DOORS syndrome1 test
DPAGT1-CDG1 test
Danon disease2 tests
De Lange syndrome3 tests
Deafness and myopia1 test
Deafness dystonia syndrome3 tests
Deafness with labyrinthine aplasia microtia and microdontia (LAMM)1 test
Deafness, autosomal dominant 231 test
Deafness, autosomal dominant 34, with or without inflammation2 tests
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 11 test
Deafness, autosomal recessive 1A1 test
Deafness-infertility syndrome1 test
Decreased fetal movement1 test
Decreased motor nerve conduction velocity1 test
Deficiency of 2-methylbutyryl-CoA dehydrogenase1 test
Deficiency of 3-hydroxyacyl-CoA dehydrogenase1 test
Deficiency of acetyl-CoA acetyltransferase1 test
Deficiency of butyryl-CoA dehydrogenase1 test
Deficiency of galactokinase1 test
Deficiency of glycerol kinase1 test
Deficiency of hydroxymethylglutaryl-CoA lyase2 tests
Deficiency of malonyl-CoA decarboxylase1 test
Deficiency of steroid 17-alpha-monooxygenase2 tests
Dejerine-Sottas disease1 test
Delayed speech and language development1 test
Deletion of long arm of chromosome 181 test
Deletion of short arm of chromosome 181 test
Desmosterolosis1 test
DiGeorge Syndrome1 test
Diabetes-deafness syndrome maternally transmitted4 tests
Diamond-Blackfan anemia1 test
Digital arthropathy-brachydactyly, familial1 test
Dihydropteridine reductase deficiency1 test
Dilated cardiomyopathy 1X1 test
Disorder of the urea cycle metabolism1 test
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency1 test
Distal arthrogryposis1 test
Distal arthrogryposis type 1A2 tests
Distal arthrogryposis type 1B1 test
Distal monosomy 9p1 test
Distal spinal muscular atrophy, congenital nonprogressive1 test
Distal trisomy 14q1 test
Distal trisomy 6q1 test
Drash syndrome1 test
Duane-radial ray syndrome3 tests
Duchenne muscular dystrophy1 test
Dyskeratosis congenita1 test
Dyskeratosis congenita, autosomal dominant, 31 test
Dysphagia1 test
Dystonia2 tests
Dystonia 11 test
Dystonia 121 test
Dystonia 161 test
Dystonia 241 test
Dystonia 52 tests
Dystonia 91 test
EAST syndrome2 tests
Early infantile epileptic encephalopathy 104 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 153 tests
Early infantile epileptic encephalopathy 163 tests
Early infantile epileptic encephalopathy 173 tests
Early infantile epileptic encephalopathy 183 tests
Early infantile epileptic encephalopathy 24 tests
Early infantile epileptic encephalopathy 213 tests
Early infantile epileptic encephalopathy 43 tests
Early infantile epileptic encephalopathy 53 tests
Early infantile epileptic encephalopathy 73 tests
Early infantile epileptic encephalopathy 83 tests
Early infantile epileptic encephalopathy 93 tests
Early infantile epileptic encephalopathy with suppression bursts2 tests
Early onset epileptic encephalopathy1 test
Ectodermal dysplasia and immunodeficiency 12 tests
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 33 tests
Ehlers-Danlos syndrome6 tests
Ehlers-Danlos syndrome, musculocontractural type1 test
Ehlers-Danlos syndrome, type 45 tests
Elbow flexion contracture1 test
Elevated serum creatine phosphokinase1 test
Encephalopathy due to defective mitochondrial and peroxisomal fission2 tests
Endometrial carcinoma10 tests
Endplate acetylcholinesterase deficiency1 test
Epidermolysis bullosa1 test
Epidermolytic palmoplantar keratoderma1 test
Epilepsy4 tests
Epilepsy, X-linked, with variable learning disabilities and behavior disorders1 test
Epilepsy, focal, with speech disorder and with or without mental retardation2 tests
Epileptic encephalopathy, childhood-onset3 tests
Epileptic encephalopathy, early infantile, 14 tests
Epileptic encephalopathy, early infantile, 193 tests
Epileptic encephalopathy, early infantile, 233 tests
Epileptic encephalopathy, early infantile, 243 tests
Epileptic encephalopathy, early infantile, 253 tests
Epileptic encephalopathy, early infantile, 263 tests
Epileptic encephalopathy, early infantile, 273 tests
Epileptic encephalopathy, early infantile, 421 test
Epileptic spasms2 tests
Episodic ataxia type 21 test
Episodic kinesigenic dyskinesia 12 tests
Erythrokeratodermia variabilis et progressiva 11 test
Ethylmalonic encephalopathy2 tests
FG syndrome 12 tests
FG syndrome 21 test
Fabry disease1 test
Facial palsy1 test
Familial Mediterranean fever1 test
Familial X-linked hypophosphatemic vitamin D refractory rickets1 test
Familial adenomatous polyposis 18 tests
Familial amyloid nephropathy with urticaria AND deafness4 tests
Familial atrial myxoma1 test
Familial cancer of breast17 tests
Familial cold autoinflammatory syndrome1 test
Familial cold autoinflammatory syndrome 13 tests
Familial colorectal cancer12 tests
Familial dysautonomia1 test
Familial exudative vitreoretinopathy1 test
Familial hemiplegic migraine type 11 test
Familial hemiplegic migraine type 21 test
Familial hemiplegic migraine type 31 test
Familial hypercholesterolemia 14 tests
Familial hyperkalemic periodic paralysis1 test
Familial infantile myasthenia2 tests
Familial pancreatic carcinoma10 tests
Familial prostate carcinoma10 tests
Familial temporal lobe epilepsy 11 test
Familial thoracic aortic aneurysm and aortic dissection5 tests
Fanconi anemia4 tests
Fanconi anemia, complementation group D18 tests
Fanconi anemia, complementation group J5 tests
Fanconi anemia, complementation group N6 tests
Feeding difficulties1 test
Feingold syndrome1 test
Fetal akinesia deformation sequence 21 test
Fetal akinesia sequence1 test
Fever-associated acute infantile liver failure syndrome2 tests
Fibrochondrogenesis 15 tests
Fibrous dysplasia of jaw1 test
Flexion contracture1 test
Focal epilepsy2 tests
Foveal hypoplasia and presenile cataract syndrome1 test
Fragile X syndrome1 test
Fragile X tremor/ataxia syndrome1 test
Freeman-Sheldon syndrome1 test
Frontometaphyseal dysplasia 11 test
Frontotemporal dementia1 test
Fucosidosis1 test
Fukuyama congenital muscular dystrophy1 test
Full cheeks1 test
Fumarase deficiency3 tests
Furrowed tongue1 test
GLUT1 deficiency syndrome2 tests
GLUT1 deficiency syndrome 14 tests
GLUT1 deficiency syndrome 21 test
GM1 gangliosidosis1 test
GM1 gangliosidosis type 31 test
GRACILE syndrome2 tests
Galactosylceramide beta-galactosidase deficiency1 test
Gardner syndrome4 tests
Gastroesophageal reflux1 test
Gastrointestinal stromal tumor1 test
Gaucher disease type 3C1 test
Gaucher disease, atypical, due to saposin C deficiency1 test
Gaucher disease, perinatal lethal1 test
Gaucher's disease, type 11 test
Generalized epilepsy with febrile seizures plus5 tests
Generalized epilepsy with febrile seizures plus, type 21 test
Generalized epilepsy with febrile seizures plus, type 71 test
Generalized juvenile polyposis/juvenile polyposis coli6 tests
Genitopatellar syndrome1 test
Gillespie syndrome1 test
Glaucoma1 test
Global developmental delay1 test
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome1 test
Glucocorticoid deficiency with achalasia2 tests
Glutaric aciduria, type 11 test
Glycogen storage disease IV, congenital neuromuscular1 test
Glycogen storage disease, type IV1 test
Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors1 test
Gordon's syndrome1 test
Gorlin syndrome3 tests
Greenberg dysplasia1 test
Greig cephalopolysyndactyly syndrome1 test
HSD10 disease1 test
Hartsfield syndrome1 test
Hay-Wells syndrome of ectodermal dysplasia2 tests
Hb SS disease2 tests
Hepatic methionine adenosyltransferase deficiency1 test
Hepatocellular carcinoma1 test
Hereditary Paraganglioma-Pheochromocytoma Syndromes2 tests
Hereditary angioedema type 31 test
Hereditary breast and ovarian cancer syndrome15 tests
Hereditary cancer-predisposing syndrome4 tests
Hereditary diffuse gastric cancer9 tests
Hereditary disease6 tests
Hereditary hearing loss and deafness1 test
Hereditary hemorrhagic telangiectasia type 12 tests
Hereditary insensitivity to pain with anhidrosis1 test
Hereditary leiomyomatosis and renal cell cancer3 tests
Hereditary liability to pressure palsies1 test
Hereditary motor and sensory neuropathy3 tests
Hereditary nonpolyposis colorectal cancer type 45 tests
Hereditary nonpolyposis colorectal cancer type 55 tests
Hereditary nonpolyposis colorectal cancer type 85 tests
Hereditary ovarian carcinoma10 tests
Hereditary pancreatitis1 test
Hereditary sensory and autonomic neuropathy1 test
Hereditary sensory and autonomic neuropathy type 11 test
Hereditary sensory and autonomic neuropathy type II1 test
Hereditary sensory neuropathy type IE1 test
Hereditary spastic paraplegia1 test
Hidrotic ectodermal dysplasia syndrome1 test
Highly arched eyebrow1 test
Hip contracture1 test
Holocarboxylase synthetase deficiency1 test
Holoprosencephaly 31 test
Holoprosencephaly 72 tests
Holoprosencephaly sequence1 test
Holt-Oram syndrome3 tests
Homocystinuria1 test
Homocystinuria due to MTHFR deficiency1 test
Hydrolethalus syndrome 21 test
Hyper-IgE syndrome1 test
Hyperammonemia1 test
Hyperammonemia, type III1 test
Hyperekplexia 11 test
Hyperimmunoglobulin D with periodic fever1 test
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive1 test
Hyperinsulinemic hypoglycemia, familial, 41 test
Hyperlordosis1 test
Hyperparathyroidism 11 test
Hyperparathyroidism 21 test
Hyperphenylalaninemia, BH4-deficient, D1 test
Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency1 test
Hyperphosphatasia with mental retardation syndrome 11 test
Hypertrophic cardiomyopathy6 tests
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis2 tests
Hypochondroplasia1 test
Hypogonadism with anosmia2 tests
Hypogonadotropic hypogonadism 13 with or without anosmia1 test
Hypogonadotropic hypogonadism 2 with or without anosmia1 test
Hypogonadotropic hypogonadism 7 with or without anosmia1 test
Hypokalemic periodic paralysis 12 tests
Hypokalemic periodic paralysis, type 22 tests
Hypokinesia1 test
Hypomyelinating leukodystrophy2 tests
Hypomyelination and Congenital Cataract1 test
Hypoparathyroidism-deafness-renal disease syndrome1 test
Hypophosphatemic rickets1 test
Hypoplastic labia majora1 test
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration1 test
Hypotonia, ataxia, and delayed development syndrome1 test
Hypotonia, infantile, with psychomotor retardation and characteristic facies 11 test
Ichthyosis, cyclic, with epidermolytic hyperkeratosis1 test
Idiopathic generalized epilepsy2 tests
Idiopathic hypereosinophilic syndrome1 test
Imerslund-Gräsbeck syndrome2 tests
Immunodeficiency-centromeric instability-facial anomalies syndrome 11 test
Inborn disorder of lysosomal amino acid transport1 test
Incontinentia pigmenti syndrome2 tests
Infantile GM1 gangliosidosis1 test
Infantile convulsions and choreoathetosis2 tests
Infantile epilepsy1 test
Inguinal hernia1 test
Intellectual disability3 tests
Irido-corneo-trabecular dysgenesis1 test
Isolated coronal synostosis1 test
Isovaleryl-CoA dehydrogenase deficiency1 test
Jackson-Weiss syndrome1 test
Jarcho-Levin syndrome1 test
Jervell and Lange-Nielsen syndrome1 test
Joubert syndrome3 tests
Joubert syndrome 31 test
Joubert syndrome and related disorders1 test
Joubert syndrome with hepatic defect2 tests
Juvenile myoclonic epilepsy2 tests
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke3 tests
KBG syndrome1 test
Kearns Sayre syndrome3 tests
Keratitis ichthyosis and deafness syndrome1 test
Keutel syndrome1 test
Kleefstra syndrome 11 test
Knee flexion contracture1 test
Koolen-de Vries syndrome2 tests
Kostmann syndrome1 test
Krabbe disease, atypical, due to saposin A deficiency2 tests
Lactic acidosis4 tests
Leber congenital amaurosis 141 test
Leber congenital amaurosis 151 test
Leber congenital amaurosis 31 test
Leber congenital amaurosis with early-onset deafness1 test
Leber's optic atrophy3 tests
Legius syndrome1 test
Leigh syndrome5 tests
Lethal arthrogryposis with anterior horn cell disease1 test
Lethal congenital contracture syndrome 41 test
Lethal multiple pterygium syndrome2 tests
Lethal tight skin contracture syndrome1 test
Leukodystrophy1 test
Leukodystrophy, adult-onset, autosomal dominant1 test
Leukodystrophy, hypomyelinating, 61 test
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome2 tests
Leukoencephalopathy with vanishing white matter1 test
Levy-Hollister syndrome2 tests
Lewy body dementia1 test
Li-Fraumeni syndrome9 tests
Li-Fraumeni syndrome 14 tests
Li-Fraumeni syndrome 21 test
Limb-girdle muscular dystrophy-dystroglycanopathy, type C41 test
Limb-mammary syndrome2 tests
Lipoyltransferase 1 deficiency2 tests
Lissencephaly5 tests
Lissencephaly 2, X-linked1 test
Lissencephaly 32 tests
Lissencephaly 41 test
Lissencephaly 51 test
Lissencephaly 6, with microcephaly1 test
Lissencephaly 7 with cerebellar hypoplasia2 tests
Lissencephaly 81 test
Lissencephaly due to LIS1 mutation1 test
Lissencephaly, X-linked1 test
Loeys-Dietz syndrome3 tests
Loeys-Dietz syndrome 51 test
Long QT syndrome5 tests
Long philtrum1 test
Low-set ears1 test
Lung carcinoma2 tests
Lynch syndrome8 tests
Lynch syndrome I6 tests
Lynch syndrome II5 tests
Lysosomal acid lipase deficiency1 test
MERRF syndrome3 tests
MYH-associated polyposis7 tests
Macrocephalus1 test
Macrocephaly/autism syndrome1 test
Macrotia1 test
Majeed syndrome1 test
Malignant hyperthermia, susceptibility to, 51 test
Malignant tumor of prostate7 tests
Maple syrup urine disease1 test
Maple syrup urine disease, type 32 tests
Marden-Walker syndrome1 test
Marfan syndrome6 tests
Marshall syndrome4 tests
Maturity onset diabetes mellitus in young1 test
Meckel syndrome type 11 test
Meckel-Gruber syndrome1 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
Medulloblastoma1 test
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness2 tests
Megalocornea-intellectual disability syndrome1 test
Melanoma5 tests
Melanoma-pancreatic cancer syndrome4 tests
Meningioma, familial1 test
Menkes kinky-hair syndrome1 test
Mental retardation and microcephaly with pontine and cerebellar hypoplasia1 test
Mental retardation, autosomal dominant 221 test
Metabolic myopathy1 test
Metachromatic leukodystrophy3 tests
Metaphyseal anadysplasia1 test
Metaphyseal chondrodysplasia, McKusick type2 tests
Metaphyseal dysplasia without hypotrichosis2 tests
Metatrophic dysplasia1 test
Methylmalonic acidemia2 tests
Microcephaly, normal intelligence and immunodeficiency6 tests
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy2 tests
Micrognathia1 test
Microphthalmia, isolated, with coloboma 101 test
Mitochondrial DNA Deletion Syndromes3 tests
Mitochondrial DNA depletion syndrome2 tests
Mitochondrial complex I deficiency3 tests
Mitochondrial complex II deficiency3 tests
Mitochondrial complex III deficiency, nuclear type 13 tests
Mitochondrial complex IV deficiency3 tests
Mitochondrial diseases5 tests
Mitochondrial encephalopathy2 tests
Mitochondrial myopathy4 tests
Mitochondrial myopathy and sideroblastic anemia2 tests
Mitochondrial neurogastrointestinal encephalomyopathy3 tests
Mitochondrial pyruvate carrier deficiency2 tests
Mitochondrial short-chain enoyl-coa hydratase 1 deficiency2 tests
Monosomy 211 test
Morquio syndrome C1 test
Mosaic trisomy 101 test
Mosaic trisomy 141 test
Mosaic trisomy 151 test
Mosaic trisomy 221 test
Mosaic trisomy 71 test
Mosaic trisomy 91 test
Mowat-Wilson syndrome4 tests
Mucolipidosis type IV1 test
Mucopolysaccharidosis type 61 test
Mucopolysaccharidosis, MPS-III-C2 tests
Mucopolysaccharidosis, MPS-IV-A1 test
Mucopolysaccharidosis, MPS-IV-B1 test
Muir-Torré syndrome7 tests
Multiple acyl-CoA dehydrogenase deficiency5 tests
Multiple endocrine neoplasia, type 41 test
Multiple epiphyseal dysplasia (disease)3 tests
Multiple fibrofolliculomas1 test
Multiple mitochondrial dysfunctions syndrome2 tests
Multiple sclerosis susceptibility2 tests
Multiple sclerosis, susceptibility to, 52 tests
Multiple sulfatase deficiency2 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11 test
Muscular hypotonia1 test
Muscular hypotonia of the trunk1 test
Mutilating keratoderma1 test
Myasthenia, limb-girdle, familial2 tests
Myasthenic syndrome, congenital, 81 test
Myasthenic syndrome, slow-channel congenital1 test
Myelodysplastic syndrome1 test
Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to1 test
Myoclonic epilepsy myopathy sensory ataxia2 tests
Myoclonic epilepsy, familial infantile2 tests
Myofibrillar myopathy1 test
Myopathy with lactic acidosis, hereditary2 tests
Myopathy, centronuclear, 21 test
Myopathy, congenital, with neuropathy and deafness1 test
Myopathy, lactic acidosis, and sideroblastic anemia 11 test
Myopathy, proximal, and ophthalmoplegia1 test
Myosclerosis, autosomal recessive1 test
Myotonic dystrophy type 21 test
NARP syndrome3 tests
Nemaline bodies1 test
Nemaline myopathy1 test
Nemaline myopathy 11 test
Nemaline myopathy 21 test
Nemaline myopathy 41 test
Nemaline myopathy 51 test
Neonatal intrahepatic cholestasis caused by citrin deficiency1 test
Neoplasm of ovary6 tests
Neoplasm of stomach7 tests
Nephrocalcinosis1 test
Nephrolithiasis1 test
Nephrotic syndrome2 tests
Neuroblastoma 21 test
Neurodegeneration with brain iron accumulation2 tests
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter2 tests
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements1 test
Neurofibromas1 test
Neurofibromatosis, type 15 tests
Neurofibromatosis, type 22 tests
Neurofibromatosis-Noonan syndrome4 tests
Neuromuscular disease1 test
Neuronal ceroid lipofuscinosis3 tests
Neuronal ceroid lipofuscinosis 11 test
Neuronal ceroid lipofuscinosis 51 test
Neuronal ceroid lipofuscinosis 61 test
Neuronal ceroid lipofuscinosis 71 test
Niemann-Pick disease type C12 tests
Non-syndromic intellectual disability1 test
Nonsyndromic Deafness1 test
Nonsyndromic microcephaly2 tests
Noonan syndrome8 tests
Noonan syndrome 101 test
Noonan syndrome with multiple lentigines1 test
Noonan syndrome-like disorder with loose anagen hair 11 test
Norman-Roberts syndrome1 test
Nystagmus2 tests
Nystagmus 6, congenital, X-linked1 test
Ocular albinism with late-onset sensorineural deafness1 test
Oculocutaneous albinism1 test
Oculofaciocardiodental syndrome1 test
Oculopharyngeal muscular dystrophy1 test
Optic atrophy5 tests
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1 test
Ornithine carbamoyltransferase deficiency3 tests
Orofaciodigital syndrome type 61 test
Osteochondrodysplasia1 test
Osteogenesis imperfecta4 tests
Osteosarcoma1 test
Otospondylomegaepiphyseal dysplasia, autosomal dominant3 tests
Otospondylomegaepiphyseal dysplasia, autosomal recessive2 tests
Ovarian cancer16 tests
Ovarian dysgenesis 11 test
Ovarian dysgenesis 21 test
Ovarioleukodystrophy1 test
PTEN hamartoma tumor syndrome7 tests
Pallister-Hall syndrome1 test
Pancreatic cancer 16 tests
Pancreatic cancer 25 tests
Pancreatic cancer 31 test
Pancreatic cancer 47 tests
Paragangliomas 13 tests
Parastremmatic dwarfism1 test
Parathyroid carcinoma1 test
Parkes Weber syndrome2 tests
Parkinson disease3 tests
Parkinson disease 11 test
Parkinson disease 21 test
Paroxysmal extreme pain disorder1 test
Partial deletion of the long arm of chromosome 111 test
Partial deletion of the long arm of chromosome 21 test
Partial deletion of the long arm of chromosome 41 test
Partial deletion of the long arm of chromosome 61 test
Partial deletion of the long arm of chromosome 81 test
Partial deletion of the short arm of chromosome 11 test
Partial deletion of the short arm of chromosome 101 test
Partial duplication of the long arm of chromosome 121 test
Partial duplication of the long arm of chromosome 151 test
Partial duplication of the long arm of chromosome 171 test
Partial duplication of the long arm of chromosome 191 test
Partial duplication of the long arm of chromosome 21 test
Partial duplication of the long arm of chromosome 31 test
Partial duplication of the long arm of chromosome 41 test
Partial duplication of the long arm of chromosome 71 test
Partial duplication of the long arm of chromosome X1 test
Partial duplication of the short arm of chromosome 161 test
Partial duplication of the short arm of chromosome 21 test
Partial duplication of the short arm of chromosome 61 test
Partial duplication of the short arm of chromosome 71 test
Partial monosomy of the long arm of chromosome 101 test
Partial monosomy of the short arm of chromosome 201 test
Partial trisomy of the long arm of chromosome 161 test
Partial trisomy of the long arm of chromosome 181 test
Partial trisomy of the long arm of chromosome 51 test
Paternal uniparental disomy of chromosome 141 test
Pearson syndrome3 tests
Pectus carinatum1 test
Pelviscapular dysplasia2 tests
Pena-Shokeir syndrome type I2 tests
Pendred syndrome1 test
Peripheral neuropathy, myopathy, hoarseness, and hearing loss1 test
Periventricular nodular heterotopia4 tests
Permanent neonatal diabetes mellitus1 test
Peroxisome biogenesis disorders2 tests
Perrault syndrome4 tests
Peutz-Jeghers syndrome9 tests
Pfeiffer syndrome1 test
Phenylketonuria1 test
Pheochromocytoma4 tests
Phytanic acid storage disease1 test
Pigmentary pallidal degeneration1 test
Pigmentary retinal dystrophy1 test
Pigmented nodular adrenocortical disease, primary, 11 test
Pili torti-deafness syndrome2 tests
Pitt-Hopkins syndrome3 tests
Pleuropulmonary blastoma1 test
Pneumothorax, primary spontaneous1 test
Polycystic kidney disease 21 test
Polycystic kidney disease 31 test
Polycystic kidney disease, adult type2 tests
Polydactyly, preaxial II1 test
Polymicrogyria1 test
Polymicrogyria with optic nerve hypoplasia2 tests
Polymicrogyria, asymmetric2 tests
Polymicrogyria, bilateral frontoparietal3 tests
Pontocerebellar hypoplasia type 13 tests
Pontocerebellar hypoplasia type 22 tests
Pontocerebellar hypoplasia type 2A1 test
Pontocerebellar hypoplasia type 2D2 tests
Pontocerebellar hypoplasia type 32 tests
Pontocerebellar hypoplasia type 44 tests
Pontocerebellar hypoplasia type 62 tests
Pontocerebellar hypoplasia type 82 tests
Pontocerebellar hypoplasia, type 102 tests
Pontocerebellar hypoplasia, type 112 tests
Pontocerebellar hypoplasia, type 1b1 test
Pontocerebellar hypoplasia, type 1c2 tests
Pontocerebellar hypoplasia, type 2e2 tests
Pontocerebellar hypoplasia, type 2f2 tests
Pontocerebellar hypoplasia, type 72 tests
Pontoneocerebellar hypoplasia3 tests
Poor eye contact1 test
Potassium-aggravated myotonia1 test
Potocki-Lupski syndrome1 test
Prader-Willi syndrome1 test
Prader-Willi-like syndrome associated with chromosome 61 test
Premature ovarian failure1 test
Premature ovarian failure 71 test
Primary autosomal recessive microcephaly 11 test
Primary dilated cardiomyopathy6 tests
Primary erythromelalgia1 test
Progressive external ophthalmoplegia4 tests
Progressive myoclonic epilepsy5 tests
Progressive sclerosing poliodystrophy3 tests
Prolidase deficiency1 test
Prominent forehead1 test
Propionic acidemia4 tests
Prostate cancer, hereditary, 13 tests
Prostate cancer, hereditary, 91 test
Protoporphyria, erythropoietic, X-linked2 tests
Pseudo-TORCH syndrome 12 tests
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome1 test
Pseudoxanthoma elasticum1 test
Pursed lips1 test
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1 test
Pyridoxine-dependent epilepsy4 tests
Pyruvate carboxylase deficiency3 tests
Pyruvate dehydrogenase E1-alpha deficiency1 test
Pyruvate dehydrogenase E1-beta deficiency1 test
Pyruvate dehydrogenase complex deficiency2 tests
Pyruvate dehydrogenase lipoic acid synthetase deficiency2 tests
Radial aplasia-thrombocytopenia syndrome1 test
Rapadilino syndrome4 tests
Rapp-Hodgkin ectodermal dysplasia syndrome2 tests
Rasopathy1 test
Relative macrocephaly1 test
Renal carnitine transport defect3 tests
Renal cell carcinoma, nonpapillary2 tests
Renal cell carcinoma, papillary, 11 test
Renal tubular acidosis with progressive nerve deafness1 test
Respiratory failure1 test
Retinal dystrophy1 test
Retinitis pigmentosa1 test
Retinitis pigmentosa 732 tests
Rett syndrome6 tests
Revesz syndrome1 test
Rhabdomyosarcoma, embryonal, 21 test
Ring chromosome 11 test
Ring chromosome 101 test
Ring chromosome 121 test
Ring chromosome 131 test
Ring chromosome 141 test
Ring chromosome 151 test
Ring chromosome 181 test
Ring chromosome 191 test
Ring chromosome 20 syndrome1 test
Ring chromosome 211 test
Ring chromosome 221 test
Ring chromosome 61 test
Ring chromosome 71 test
Ring chromosome 91 test
Roberts-SC phocomelia syndrome2 tests
Robinow syndrome, autosomal dominant 11 test
Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked2 tests
Round face1 test
Roussy-Lévy syndrome1 test
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion1 test
Russell-Silver syndrome1 test
Saethre-Chotzen syndrome1 test
Scaphocephaly, maxillary retrusion, and mental retardation1 test
Schinzel phocomelia syndrome2 tests
Schwannomatosis2 tests
Schwannomatosis 11 test
Schwannomatosis 21 test
Schwartz-Jampel syndrome1 test
Scoliosis1 test
Seckel syndrome1 test
Seizures1 test
Seizures, benign familial infantile, 22 tests
Seizures, benign familial infantile, 35 tests
Sensorineural hearing loss4 tests
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome2 tests
Severe X-linked myotubular myopathy1 test
Severe achondroplasia with developmental delay and acanthosis nigricans1 test
Severe congenital neutropenia1 test
Severe myoclonic epilepsy in infancy1 test
Short columella1 test
Short neck1 test
Short nose1 test
Short-rib thoracic dysplasia 1 with or without polydactyly1 test
Shprintzen syndrome1 test
Shprintzen-Goldberg syndrome1 test
Shwachman-Diamond syndrome 12 tests
Sideroblastic anemia2 tests
Simpson-Golabi-Behmel syndrome type 11 test
Sinoatrial node dysfunction and deafness1 test
Skeletal dysplasia2 tests
Skeletal muscle atrophy1 test
Slender nose1 test
Small fiber neuropathy1 test
Smith-Lemli-Opitz syndrome2 tests
Smooth philtrum1 test
Sodium serum level quantitative trait locus 11 test
Sotos syndrome1 test
Spastic ataxia2 tests
Spastic paraplegia 49, autosomal recessive1 test
Spastic tetraplegia1 test
Spermatogenic failure 81 test
Sphingolipid activator protein 1 deficiency1 test
Spinal muscular atrophy1 test
Spinal muscular atrophy, X-linked 21 test
Spinocerebellar ataxia 72 tests
Spinocerebellar ataxia type 13 tests
Spinocerebellar ataxia type 22 tests
Spinocerebellar ataxia type 63 tests
Spinocerebellar ataxia type 82 tests
Spinocerebellar atrophy2 tests
Split-hand/foot malformation 42 tests
Spondyloepiphyseal dysplasia Maroteaux type1 test
Spondyloepiphyseal dysplasia congenita1 test
Spondylometaphyseal dysplasia, Kozlowski type1 test
Spongy degeneration of central nervous system1 test
Stargardt Disease 31 test
Stargardt disease2 tests
Steinert myotonic dystrophy syndrome2 tests
Stickler syndrome4 tests
Subacute neuronopathic Gaucher's disease1 test
Subcortical band heterotopia2 tests
Sudden cardiac arrest3 tests
Susceptibility to strabismus1 test
TNF receptor-associated periodic fever syndrome (TRAPS)3 tests
Tay-Sachs disease1 test
Temple syndrome1 test
Tetraamelia, autosomal recessive1 test
Tetrasomy 18p1 test
Tetrasomy 9p1 test
Thanatophoric dysplasia type 11 test
Thanatophoric dysplasia, type 21 test
Thin upper lip vermilion1 test
Thrombocytopenia 51 test
Thyrotoxic periodic paralysis, susceptibility to, 11 test
Townes syndrome2 tests
Townes-Brocks syndrome 12 tests
Triangular face1 test
Trisomy 10p1 test
Trisomy 12p1 test
Trisomy 17p1 test
Trisomy 20p1 test
Trisomy 8p1 test
Trisomy 8q1 test
Tuberous sclerosis 15 tests
Tuberous sclerosis 26 tests
Tuberous sclerosis syndrome4 tests
Turcot syndrome6 tests
Type III lissencephaly1 test
Tyrosinemia type 31 test
Tyrosinemia type I1 test
Tyrosinemia type II1 test
UV-sensitive syndrome 11 test
Ullrich congenital muscular dystrophy 11 test
Ulnar-mammary syndrome1 test
Umbilical hernia1 test
Uniparental disomy of 111 test
Uniparental disomy of 71 test
Uniparental disomy of chromosome 61 test
Usher Syndrome, Type III1 test
Usher syndrome2 tests
Usher syndrome type 11 test
Usher syndrome, type 1C1 test
Usher syndrome, type 1J1 test
Usher syndrome, type 2A1 test
Usher syndrome, type 2C1 test
Usher syndrome, type 2D1 test
Very long chain acyl-CoA dehydrogenase deficiency1 test
Visceral myopathy3 tests
Vitamin B12-responsive methylmalonic acidemia type cblA1 test
Vitamin B12-responsive methylmalonic acidemia type cblB2 tests
Von Hippel-Lindau syndrome7 tests
Walker-Warburg congenital muscular dystrophy2 tests
Warburg micro syndrome1 test
West syndrome3 tests
Wide mouth1 test
Wide nasal bridge1 test
Wieacker-Wolff syndrome, female-restricted1 test
Wilms tumor 11 test
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome1 test
Wilson disease2 tests
Wolff-Parkinson-White syndrome3 tests
Wolfram syndrome2 tests
X chromosome, duplication Xq13 1 q21 11 test
X chromosome, monosomy Xq281 test
X chromosome, trisomy Xp31 test
X chromosome, trisomy Xpter Xq131 test
X chromosome, trisomy Xq251 test
X-linked mental retardation with marfanoid habitus syndrome2 tests
X-linked retinitis pigmentosa1 test
Xeroderma pigmentosum, group G1 test
Y chromosome deletions1 test
Y chromosome-related disorders1 test
ZTTK syndrome2 tests
alpha-Dystroglycan related dystrophy3 tests
progressive1 test
short QT syndrome4 tests
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