Mayo Clinic Laboratories (Mayo Clinic), MCL

General information

Mayo Clinic Laboratories, MCL
Mayo Clinic
3050 Superior Drive NW
Rochester
Minnesota
United States - 55901
https://www.mayocliniclabs.com/
Organization ID: 500068

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 6977

Gene

GeneSubmissionsLast Updated
AAAS1May 26, 2021
AARS12May 26, 2021
AARS29May 23, 2018
AASS7May 23, 2018
ABAT15May 26, 2021
ABCA110May 26, 2021
ABCB79Oct 15, 2018
ABCC81Feb 28, 2018
ABCC93May 26, 2021
ABCD116May 26, 2021
ABCD22May 23, 2018
ABCD33May 23, 2018
ABCG55May 26, 2021
ABCG88May 26, 2021
ABHD14A-ACY15May 26, 2021
ACACA12May 23, 2018
ACAD910May 26, 2021
ACADM5May 26, 2021
ACADS1May 26, 2021
ACADVL6May 26, 2021
ACO26Jul 18, 2018
ACOX110May 23, 2018
ACOX21Jul 18, 2018
ACOX312May 26, 2021
ACP25May 23, 2018
ACSF32Feb 28, 2018
ACTA21May 26, 2021
ACTA2-AS11May 26, 2021
ACTC11May 26, 2021
ACTN26May 26, 2021
ACVRL116May 26, 2021
ACY15May 26, 2021
ACYP11May 23, 2018
ADA2May 26, 2021
ADA23May 26, 2021
ADAMTS1318May 26, 2021
ADAMTS211May 26, 2021
ADAR1Feb 28, 2018
ADCY61May 26, 2021
ADGRG13May 26, 2021
ADGRG64May 26, 2021
ADSL4May 26, 2021
AFG3L211May 26, 2021
AGA10May 26, 2021
AGK2May 23, 2018
AGL41May 26, 2021
AGO11Feb 28, 2018
AGPS4May 23, 2018
AGRN2May 26, 2021
AGXT3May 26, 2021
AHDC11Feb 28, 2018
AHNAK1Feb 28, 2018
AHNAK22Jul 18, 2018
AIFM16May 26, 2021
AKAP96May 26, 2021
ALDH3A211May 23, 2018
ALDH7A11May 26, 2021
ALDOA9May 26, 2021
ALDOB1May 26, 2021
ALG121Feb 28, 2018
ALG132May 26, 2021
ALG82Feb 28, 2018
AMACR15May 26, 2021
AMPD19May 23, 2018
AMT1May 26, 2021
ANK140May 26, 2021
ANK27May 26, 2021
ANK31Feb 28, 2018
ANKRD11May 26, 2021
ANKRD112Feb 28, 2018
ANO57May 26, 2021
AOPEP2May 26, 2021
AP3B13May 26, 2021
AP4B13May 26, 2021
AP4B1-AS12May 26, 2021
AP4E15May 26, 2021
AP4M15May 26, 2021
AP4S13May 26, 2021
AP5Z112May 26, 2021
APC216May 28, 2021
APOA13May 26, 2021
APOA1-AS3May 26, 2021
APOB12May 26, 2021
APTX10May 28, 2021
ARFGEF26May 26, 2021
ARHGAP351Feb 28, 2018
ARHGEF1011May 26, 2021
ARSA16May 26, 2021
ARSB15May 23, 2018
ARSH15May 23, 2018
ARSL1Feb 28, 2018
ASAH117May 26, 2021
ASIC4-AS12May 26, 2021
ASPM2Feb 28, 2018
ASTN25May 26, 2021
ASXL31Feb 28, 2018
ATL12May 26, 2021
ATM25May 26, 2021
ATP13A231May 26, 2021
ATP1A22May 26, 2021
ATP2C21Feb 28, 2018
ATP5F1A7May 23, 2018
ATP5MC31May 23, 2018
ATP7A10May 26, 2021
ATP7B69May 26, 2021
ATP8A21Feb 28, 2018
ATPAF23May 23, 2018
ATRX1May 26, 2021
AUH9May 23, 2018
AUTS21Feb 28, 2018
AXIN228May 26, 2021
B3GAT31Feb 28, 2018
B3GLCT1Feb 28, 2018
B4GALNT16May 26, 2021
BAG35May 26, 2021
BBS11Feb 28, 2018
BCS1L6May 23, 2018
BICD21May 26, 2021
BIN11Feb 28, 2018
BLM2Jul 18, 2018
BLNK2May 26, 2021
BMPR1A12Mar 9, 2018
BMPR21Feb 28, 2018
BOLA33May 26, 2021
BRAF4May 26, 2021
BRCA175May 28, 2021
BRCA2132May 28, 2021
BSCL22May 26, 2021
BTK2May 26, 2021
BVES1May 26, 2021
C11orf6510May 26, 2021
C12orf571Feb 28, 2018
C1QTNF3-AMACR15May 26, 2021
C314May 26, 2021
C51Feb 28, 2018
CA5A8May 23, 2018
CACNA1A12May 26, 2021
CACNA1C3May 26, 2021
CACNA1H2Feb 28, 2018
CACNA1S6May 26, 2021
CACNA2D11May 26, 2021
CACNA2D21May 26, 2021
CACNB22May 26, 2021
CACNB42Jul 18, 2018
CADPS1Feb 28, 2018
CAPN36May 26, 2021
CARD112May 26, 2021
CARD147May 26, 2021
CASQ11Feb 28, 2018
CAT4May 23, 2018
CATIP-AS24May 23, 2018
CAV34May 26, 2021
CAVIN11May 26, 2021
CBL1Feb 28, 2018
CBS5May 26, 2021
CCDC1032May 23, 2018
CCDC401May 23, 2018
CCNO1Feb 28, 2018
CCT51May 26, 2021
CD271May 26, 2021
CD27-AS11May 26, 2021
CD40LG1May 26, 2021
CD4613May 26, 2021
CD593May 26, 2021
CD79B1May 26, 2021
CDAN113May 26, 2021
CDH130May 26, 2021
CDH232May 23, 2018
CDHR11Feb 28, 2018
CDIN12May 26, 2021
CDK5RAP23Feb 28, 2018
CEP2901Feb 28, 2018
CEP631May 26, 2021
CEP85L1May 26, 2021
CERS12May 26, 2021
CFB1May 26, 2021
CFD5May 26, 2021
CFH24May 26, 2021
CFHR14May 26, 2021
CFHR33May 26, 2021
CFHR58May 26, 2021
CFI13May 26, 2021
CFTR130May 26, 2021
CFTR-AS112May 26, 2021
CHAT14May 23, 2018
CHD21Feb 28, 2018
CHD31Feb 28, 2018
CHD72May 26, 2021
CHEK27May 26, 2021
CHIT116May 23, 2018
CHKB1Feb 28, 2018
CHKB-CPT1B1Feb 28, 2018
CHPT12May 23, 2018
CHRNA23May 26, 2021
CHRNA44May 26, 2021
CHRNG1Feb 28, 2018
CHST143May 26, 2021
CHST61Feb 28, 2018
CHST81May 26, 2021
CLCF12May 26, 2021
CLCN18May 26, 2021
CLN39May 27, 2021
CLN515May 26, 2021
CLN611May 26, 2021
CLN82May 26, 2021
CLPP5May 23, 2018
CNTN11May 26, 2021
CNTN21Feb 28, 2018
CNTNAP16May 26, 2021
CNTNAP26May 27, 2021
COA52May 23, 2018
COA62May 23, 2018
COA86May 23, 2018
COG41May 26, 2021
COG51May 26, 2021
COG74May 26, 2021
COG81May 26, 2021
COL11A21Feb 28, 2018
COL12A14May 26, 2021
COL1A19May 26, 2021
COL1A210May 26, 2021
COL27A11Feb 28, 2018
COL2A11Feb 28, 2018
COL3A18May 26, 2021
COL4A15May 27, 2021
COL5A127May 26, 2021
COL5A211May 26, 2021
COL6A15May 26, 2021
COL6A28May 26, 2021
COL6A38May 26, 2021
COL9A21Feb 28, 2018
COLQ2Feb 28, 2018
COQ27Aug 28, 2018
COQ44May 23, 2018
COQ65May 23, 2018
COQ8A12May 23, 2018
COQ8B12May 23, 2018
COQ94May 26, 2021
COX1014May 26, 2021
COX141May 23, 2018
COX151May 23, 2018
COX203May 23, 2018
COX4I21May 23, 2018
COX6B11May 23, 2018
COX7B2May 23, 2018
CPOX1May 26, 2021
CPT25May 26, 2021
CR21May 26, 2021
CRLF12May 26, 2021
CSF3R5May 26, 2021
CSNK2B2Jul 18, 2018
CSRP31May 26, 2021
CTC14May 26, 2021
CTCF1Jul 18, 2018
CTDP110May 26, 2021
CTLA41May 26, 2021
CTNNB11Jul 18, 2018
CTNS11May 23, 2018
CTRC11May 26, 2021
CTSA16May 26, 2021
CTSD12May 23, 2018
CTSF13May 26, 2021
CTSK1May 23, 2018
CXCR44May 26, 2021
CYBB1May 26, 2021
CYC15May 23, 2018
CYP2U13May 26, 2021
CYP2U1-AS11May 26, 2021
CYP7B13May 26, 2021
D2HGDH13May 26, 2021
DARS225May 26, 2021
DBNL6May 28, 2021
DCLRE1C3May 26, 2021
DCTN12May 26, 2021
DCX2May 26, 2021
DDHD17May 26, 2021
DDHD23May 26, 2021
DDX3X1Feb 28, 2018
DEPDC56May 26, 2021
DES2May 26, 2021
DGAT11Feb 28, 2018
DGKE2May 26, 2021
DGUOK7May 23, 2018
DHDDS1May 26, 2021
DHH3May 26, 2021
DHTKD18May 26, 2021
DKC12May 26, 2021
DLAT12May 23, 2018
DLD10May 23, 2018
DMAC2L3May 23, 2018
DMD12May 27, 2021
DNA211May 23, 2018
DNAAF11Feb 28, 2018
DNAAF61Jul 18, 2018
DNAH111Feb 28, 2018
DNAH54Feb 28, 2018
DNAI21Jul 16, 2018
DNAJB21May 26, 2021
DNAJC192May 23, 2018
DNAJC55May 23, 2018
DNAJC9-AS12May 23, 2018
DNASE15May 23, 2018
DNM1L9May 23, 2018
DNM25May 26, 2021
DNMT14May 26, 2021
DOCK31Feb 28, 2018
DOCK73May 26, 2021
DOCK83May 26, 2021
DOK74May 26, 2021
DPAGT12May 26, 2021
DRC11Feb 28, 2018
DSC23May 26, 2021
DSG25May 26, 2021
DSG2-AS12May 26, 2021
DSP12May 26, 2021
DST33May 26, 2021
DTNA2May 26, 2021
DUOX21Feb 28, 2018
DUOXA21Feb 28, 2018
DYNC1H16May 26, 2021
DYNC2LI14May 26, 2021
DYSF22May 26, 2021
EARS210May 23, 2018
EBF31Feb 28, 2018
ECH17May 23, 2018
EDNRB1Feb 28, 2018
EDNRB-AS11Feb 28, 2018
EEF1A22May 26, 2021
EGR25May 26, 2021
ELAC211May 23, 2018
ELANE3May 26, 2021
ELN1Feb 28, 2018
ELP16May 26, 2021
ENG21May 27, 2021
ENO312May 26, 2021
ENPP12Feb 28, 2018
ENTPD11Feb 28, 2018
ENTPD1-AS11Feb 28, 2018
ENTPD54May 23, 2018
EPB416May 26, 2021
EPB4215May 26, 2021
EPHB11May 26, 2021
EPM2A12May 26, 2021
EPM2A-DT6May 26, 2021
ERBB35May 26, 2021
ERCC611May 26, 2021
ERCC6-PGBD31May 26, 2021
ERCC84May 26, 2021
ERLIN22May 26, 2021
ETFA2May 23, 2018
ETFB2May 23, 2018
ETFDH11May 26, 2021
ETHE15May 23, 2018
EVC1Feb 28, 2018
EXT22Feb 28, 2018
F101May 26, 2021
F114May 26, 2021
F13B1May 26, 2021
F75May 26, 2021
F88May 26, 2021
F92May 26, 2021
FA2H3Feb 28, 2018
FAH1May 26, 2021
FAM126A8May 26, 2021
FANCA17May 26, 2021
FANCC4May 26, 2021
FANCG1May 26, 2021
FANCI3May 23, 2018
FARS25May 26, 2021
FASTKD25May 23, 2018
FBLN54May 26, 2021
FBN133May 27, 2021
FBN27May 26, 2021
FBXL37May 26, 2021
FBXL410May 23, 2018
FBXO111Oct 31, 2017
FBXO412Feb 28, 2018
FBXW71Feb 28, 2018
FGA3May 26, 2021
FGB2May 26, 2021
FGD11Feb 28, 2018
FGD44May 26, 2021
FGFR32May 26, 2021
FGG4May 26, 2021
FH5May 26, 2021
FIG48May 26, 2021
FKBP141May 26, 2021
FKBP14-AS11May 26, 2021
FKRP6May 26, 2021
FKTN5May 26, 2021
FLG2Feb 28, 2018
FLNA12May 26, 2021
FLNC6May 26, 2021
FLNC-AS11May 26, 2021
FLVCR12May 26, 2021
FOXC21Feb 28, 2018
FOXP31May 26, 2021
FOXRED14May 23, 2018
FRAS12Feb 28, 2018
FUCA18May 23, 2018
FXN3May 23, 2018
G6PC14May 28, 2021
G6PC34May 26, 2021
G6PD8May 26, 2021
GAA59May 28, 2021
GABRB31Feb 28, 2018
GABRD1May 26, 2021
GABRG21May 26, 2021
GALC33May 26, 2021
GALE1May 26, 2021
GALNS28May 23, 2018
GALT5May 26, 2021
GAMT5May 26, 2021
GAN2May 26, 2021
GAREM22May 26, 2021
GARS116May 26, 2021
GATA25May 26, 2021
GATAD11Feb 28, 2018
GATM1May 26, 2021
GBA13May 28, 2021
GBA23May 26, 2021
GBE124May 28, 2021
GCDH3May 23, 2018
GCLC3May 26, 2021
GDAP16May 26, 2021
GDF12May 26, 2021
GEMIN52Jul 18, 2018
GFAP16May 26, 2021
GFER6May 23, 2018
GFI11May 26, 2021
GFM19May 26, 2021
GFPT12May 26, 2021
GH-LCR4May 26, 2021
GHR2Feb 28, 2018
GJB11May 26, 2021
GJC23May 26, 2021
GJD2-DT1May 26, 2021
GLA12May 26, 2021
GLB114Jul 18, 2018
GM2A7May 23, 2018
GMPPB2May 26, 2021
GNB41May 26, 2021
GNE2May 26, 2021
GNPAT5May 23, 2018
GNPTAB23May 23, 2018
GNPTG7May 26, 2021
GNS6May 23, 2018
GPC32May 26, 2021
GPD1L2May 26, 2021
GPI4May 26, 2021
GPR151Feb 28, 2018
GRIA31May 26, 2021
GRIN16May 27, 2021
GRIN2A3May 26, 2021
GRIN2B2May 26, 2021
GRN12May 26, 2021
GSN2May 26, 2021
GSR7May 26, 2021
GSS10May 26, 2021
GUSB13May 23, 2018
GYG18May 26, 2021
GYPC2May 26, 2021
GYS14May 26, 2021
GYS213May 23, 2018
HADHA6May 26, 2021
HADHB7May 26, 2021
HARS15May 26, 2021
HARS22May 23, 2018
HAX14May 26, 2021
HBA-LCR1May 26, 2021
HBB12May 26, 2021
HBD3May 26, 2021
HCFC11Feb 28, 2018
HDAC61Feb 28, 2018
HDAC91Feb 28, 2018
HERC12Feb 28, 2018
HERC22Jul 18, 2018
HEXA9May 26, 2021
HEXB5May 26, 2021
HFE1May 26, 2021
HFE-AS11May 26, 2021
HGSNAT8May 23, 2018
HIBCH2May 23, 2018
HIC21Jul 18, 2018
HK14May 26, 2021
HLCS1Feb 28, 2018
HMBS1May 26, 2021
HMOX13May 26, 2021
HNRNPCL11Feb 28, 2018
HNRNPDL1May 26, 2021
HNRNPU1May 23, 2018
HNRNPU-AS12May 23, 2018
HNRNPUL2-BSCL22May 26, 2021
HOGA12May 26, 2021
HPSE21Feb 28, 2018
HRAS1May 26, 2021
HSD17B418May 23, 2018
HSPB12May 26, 2021
HSPB31May 26, 2021
HSPG22Jul 18, 2018
HUWE11Feb 28, 2018
HYAL13May 23, 2018
HYDIN1Feb 28, 2018
IARS26May 23, 2018
IBA578May 26, 2021
ICOS1May 26, 2021
IDH24May 23, 2018
IDH2-DT1May 23, 2018
IDS10May 23, 2018
IDUA28May 26, 2021
IFIH11Feb 28, 2018
IGF1R1Feb 28, 2018
IGHMBP213May 26, 2021
IGLL12May 26, 2021
IKBKB2Feb 28, 2018
IKBKG3May 26, 2021
IL10RB1May 26, 2021
IL36RN1May 26, 2021
IL7R1May 26, 2021
INF25May 26, 2021
INSL61Jul 16, 2018
ISCU7May 23, 2018
ISG151May 26, 2021
ITGA73May 26, 2021
ITGB23May 26, 2021
JAK21Jul 16, 2018
JUP1May 26, 2021
KANSL12May 26, 2021
KARS18May 26, 2021
KCNB11May 26, 2021
KCNC11May 26, 2021
KCNE13May 26, 2021
KCNE32May 26, 2021
KCNH27May 26, 2021
KCNH51May 26, 2021
KCNJ104May 26, 2021
KCNJ23May 26, 2021
KCNK31Feb 28, 2018
KCNQ111May 26, 2021
KCNQ25May 26, 2021
KCNQ33May 26, 2021
KCNT12May 26, 2021
KCTD78May 26, 2021
KDM5C1May 26, 2021
KIAA05862Feb 28, 2018
KIF111Feb 28, 2018
KIF1A6May 26, 2021
KIF1B7May 26, 2021
KIF221Feb 28, 2018
KIF234May 26, 2021
KIF5A4May 26, 2021
KIT1Feb 28, 2018
KLF12May 26, 2021
KLHL401May 26, 2021
KLHL412May 26, 2021
KLLN3Oct 31, 2017
KMT2B1Jul 18, 2018
KMT2D1Feb 28, 2018
KPTN1Feb 28, 2018
KRAS1May 26, 2021
KY1May 26, 2021
L1CAM1Feb 28, 2018
L2HGDH7May 23, 2018
LAMA249May 26, 2021
LAMA43May 26, 2021
LAMC31Feb 28, 2018
LAMP26May 23, 2018
LARGE14May 26, 2021
LARS214May 23, 2018
LARS2-AS15May 23, 2018
LDB35May 26, 2021
LDHA14May 23, 2018
LDLR38May 27, 2021
LDLR-AS12May 26, 2021
LDLRAP11May 26, 2021
LGI11Feb 28, 2018
LIAS2May 23, 2018
LIG42May 26, 2021
LIPA6May 23, 2018
LIPT21May 26, 2021
LITAF1May 26, 2021
LMNA15May 26, 2021
LOC1001305872May 26, 2021
LOC1001309872May 26, 2021
LOC10028958024May 26, 2021
LOC1014482029May 26, 2021
LOC1019270553May 26, 2021
LOC1019280083May 26, 2021
LOC1027235665May 26, 2021
LOC1027240586May 26, 2021
LOC1060501027May 23, 2018
LOC1060990629May 26, 2021
LOC1060990631May 26, 2021
LOC10662798111May 28, 2021
LOC10713351012May 26, 2021
LOC1073033431May 26, 2021
LOC1079880322May 26, 2021
LOC1099510291May 26, 2021
LOC1100063193May 26, 2021
LOC1101212691May 26, 2021
LOC1101212883May 26, 2021
LOC1101214861May 26, 2021
LOC1108062631Feb 28, 2018
LOC1108063061May 26, 2021
LOC11167447212May 26, 2021
LOC11167447511May 26, 2021
LOC1116744774May 26, 2021
LOC1124862232May 26, 2021
LOC1125298951May 23, 2018
LOC1125434701May 26, 2021
LOC1126947569May 26, 2021
LOC1129975404May 23, 2018
LOC1136338771May 26, 2021
LOC1137882972May 23, 2018
LOC1139399443May 26, 2021
LOC1171255921May 26, 2021
LONP11Feb 28, 2018
LOXHD11Feb 28, 2018
LPIN11May 26, 2021
LPIN24May 26, 2021
LRBA11May 26, 2021
LRPPRC11May 23, 2018
LRRC561May 26, 2021
LRRC8A2May 26, 2021
LRSAM19May 26, 2021
LYRM42May 23, 2018
LYRM71May 23, 2018
LYST11May 26, 2021
LYZ1May 26, 2021
MAF1May 26, 2021
MALT11Feb 28, 2018
MAN1B11Feb 28, 2018
MAN2B124May 27, 2021
MANBA17May 23, 2018
MAP2K12May 26, 2021
MAP2K21May 26, 2021
MARK21Feb 28, 2018
MARS12May 26, 2021
MARS22May 23, 2018
MASP12Feb 28, 2018
MASP21Feb 28, 2018
MATR31May 26, 2021
MBD55May 26, 2021
MCM71May 26, 2021
MCOLN110May 23, 2018
MCPH11Feb 28, 2018
MECP27May 26, 2021
MED231Feb 28, 2018
MED253May 26, 2021
MEFV7May 26, 2021
MEGF105May 26, 2021
MFAP52May 26, 2021
MFN27May 26, 2021
MFSD85May 23, 2018
MGAT21May 26, 2021
MGME13May 23, 2018
MHRT4May 26, 2021
MICU11May 23, 2018
MIF4GD-DT3May 26, 2021
MILR15May 23, 2018
MLC11Feb 28, 2018
MLH1116May 28, 2021
MLH329May 26, 2021
MMACHC4May 26, 2021
MOCS12May 26, 2021
MOCS21May 26, 2021
MPC13May 23, 2018
MPV172May 26, 2021
MPZ7May 26, 2021
MRPL33May 23, 2018
MRPL443May 23, 2018
MRPS162May 23, 2018
MRPS222May 23, 2018
MSC-AS11May 26, 2021
MSH2107May 28, 2021
MSH6149May 28, 2021
MTFMT12May 23, 2018
MTMR25May 26, 2021
MTO17May 23, 2018
MTPAP4May 23, 2018
MTRFR6May 26, 2021
MTTP3May 26, 2021
MUTYH12May 28, 2021
MVK3May 26, 2021
MYBPC317May 27, 2021
MYH117May 27, 2021
MYH147May 26, 2021
MYH26May 26, 2021
MYH62May 26, 2021
MYH714May 26, 2021
MYHAS6May 26, 2021
MYL32May 26, 2021
MYLK7May 26, 2021
MYLK-AS11May 26, 2021
MYLK21May 26, 2021
MYO18B11May 26, 2021
MYO18B-AS13May 26, 2021
MYO7A2Feb 28, 2018
MYOT3May 26, 2021
MYOZ21May 26, 2021
MYPN4May 26, 2021
NAGA13May 26, 2021
NAGLU10May 26, 2021
NCAPH29May 26, 2021
NCF22May 26, 2021
NCF41May 26, 2021
NCF4-AS11May 26, 2021
NDE12May 26, 2021
NDRG15May 26, 2021
NDST12Feb 28, 2018
NDUFA11May 23, 2018
NDUFA107May 23, 2018
NDUFA121May 23, 2018
NDUFA21May 23, 2018
NDUFA94May 23, 2018
NDUFAF18May 23, 2018
NDUFAF22May 23, 2018
NDUFAF44May 23, 2018
NDUFAF56May 23, 2018
NDUFAF68May 23, 2018
NDUFB31May 23, 2018
NDUFB93May 23, 2018
NDUFS112May 23, 2018
NDUFS23May 23, 2018
NDUFS31May 23, 2018
NDUFS44May 23, 2018
NDUFS61May 23, 2018
NDUFS75May 23, 2018
NDUFS81May 23, 2018
NDUFV15May 23, 2018
NDUFV22May 23, 2018
NEB23May 26, 2021
NECAP11May 26, 2021
NEFL2May 26, 2021
NEU16May 27, 2021
NEXN3May 26, 2021
NF22May 26, 2021
NFU14May 23, 2018
NGF2May 26, 2021
NGF-AS12May 26, 2021
NGLY11May 26, 2021
NHLRC16May 26, 2021
NHP22May 26, 2021
NIPA11May 26, 2021
NKX2-51Feb 28, 2018
NLRC43May 26, 2021
NLRP124May 26, 2021
NLRP33May 26, 2021
NOD210May 26, 2021
NOTCH19May 26, 2021
NOTCH37May 26, 2021
NPC136May 28, 2021
NPC22May 23, 2018
NPRL32May 27, 2021
NR1H31May 23, 2018
NR2F12Feb 28, 2018
NR2F21Feb 28, 2018
NRL16May 23, 2018
NRXN15May 26, 2021
NSD21Feb 28, 2018
NSUN62May 26, 2021
NT5C3A3May 26, 2021
NTRK17May 26, 2021
NUBPL6Jul 18, 2018
OCLN2May 26, 2021
OGDH10May 23, 2018
OPA117May 26, 2021
OPA1-AS11May 23, 2018
OPA31May 23, 2018
OPTN1May 26, 2021
OR10Z11May 26, 2021
ORC11Feb 28, 2018
OXCT15May 23, 2018
OXCT1-AS11May 23, 2018
P3H21Feb 28, 2018
PAFAH1B11May 26, 2021
PAH2Feb 28, 2018
PANK217May 26, 2021
PC7May 23, 2018
PCK216May 23, 2018
PCSK93May 26, 2021
PDHA12May 23, 2018
PDHB5May 23, 2018
PDHX17May 23, 2018
PDK31May 26, 2021
PDP11May 23, 2018
PDSS14May 23, 2018
PDSS25May 26, 2021
PDZD96May 23, 2018
PEX112May 23, 2018
PEX1011May 26, 2021
PEX11B1May 23, 2018
PEX123May 26, 2021
PEX131May 23, 2018
PEX148May 23, 2018
PEX165May 23, 2018
PEX192May 23, 2018
PEX23May 23, 2018
PEX264May 26, 2021
PEX35May 23, 2018
PEX59May 23, 2018
PEX618May 26, 2021
PEX77May 26, 2021
PFKM14May 26, 2021
PGAM26May 28, 2021
PGAP31Feb 28, 2018
PGBD31May 26, 2021
PGK15May 26, 2021
PGM115May 23, 2018
PHGDH4May 26, 2021
PHKA17May 28, 2021
PHKA1-AS11May 23, 2018
PHKA29May 23, 2018
PHKB17May 23, 2018
PHKG21May 23, 2018
PHLPP12Feb 28, 2018
PHYH12May 26, 2021
PIEZO164May 26, 2021
PIEZO23Feb 28, 2018
PIGN1Jul 18, 2018
PIGT2May 26, 2021
PIGV2Feb 28, 2018
PIH1D22May 23, 2018
PIK3CD4May 26, 2021
PIK3R13May 26, 2021
PITPNM31Feb 28, 2018
PKD2L2-DT3May 26, 2021
PKHD113May 26, 2021
PKLR22May 26, 2021
PKP21May 26, 2021
PLA2G66May 26, 2021
PLCB12May 26, 2021
PLCG29May 26, 2021
PLCH21May 23, 2018
PLEC19May 26, 2021
PLEKHG32May 26, 2021
PLEKHG514May 26, 2021
PLG12May 26, 2021
PLN1May 26, 2021
PLOD17May 26, 2021
PLP12May 26, 2021
PMM26May 26, 2021
PMP225May 27, 2021
PMS233Oct 31, 2017
PNKD4May 23, 2018
PNKP13May 27, 2021
PNPLA67May 26, 2021
PNPO1May 26, 2021
PNPT17May 23, 2018
POLG60May 28, 2021
POLG25May 23, 2018
POLR1C9May 23, 2018
POLR2F1May 26, 2021
POLR3H2Jul 18, 2018
POMGNT14May 26, 2021
POMK1May 26, 2021
POMT13May 26, 2021
POMT22May 26, 2021
PPT110May 26, 2021
PRICKLE11May 26, 2021
PRKAG210May 26, 2021
PRKG12May 26, 2021
PRNP1May 26, 2021
PROC2May 26, 2021
PRODH2Feb 28, 2018
PROS12May 26, 2021
PRRT23May 26, 2021
PRUNE22Feb 28, 2018
PRX14May 26, 2021
PSAP8May 23, 2018
PTCH11Feb 28, 2018
PTEN40Oct 31, 2017
PTPN1114May 26, 2021
PTX31Feb 28, 2018
PUS12May 23, 2018
PYGL20May 26, 2021
PYGM25May 28, 2021
QARS18May 26, 2021
RAB33A6May 26, 2021
RAB3GAP11May 26, 2021
RAB9B2May 26, 2021
RAF15May 26, 2021
RAG13May 26, 2021
RAG21May 26, 2021
RAPSN2May 26, 2021
RARS29May 23, 2018
RBCK12May 26, 2021
RBM204May 26, 2021
REEP12May 26, 2021
RELN9May 26, 2021
RETREG12May 26, 2021
RFT11Feb 28, 2018
RHAG2May 26, 2021
RIF12May 26, 2021
RINT12Feb 28, 2018
RMND14May 26, 2021
RMRP2May 26, 2021
ROGDI3May 26, 2021
ROR21Feb 28, 2018
RPL36A-HNRNPH212May 26, 2021
RPS192May 26, 2021
RPS6KA31Feb 28, 2018
RRM2B4May 26, 2021
RTEL116May 26, 2021
RTEL1-TNFRSF6B16May 26, 2021
RTN23May 26, 2021
RYR118May 26, 2021
RYR214May 26, 2021
RYR33Feb 28, 2018
SACS57May 28, 2021
SARS212May 23, 2018
SBDS4May 26, 2021
SBF123May 26, 2021
SBF28May 26, 2021
SBF2-AS11May 26, 2021
SCARB25May 26, 2021
SCN10A9May 26, 2021
SCN11A5May 26, 2021
SCN1A12May 26, 2021
SCN1A-AS117May 26, 2021
SCN1B1May 26, 2021
SCN2A7May 26, 2021
SCN3A2Feb 28, 2018
SCN4A5May 26, 2021
SCN4B1May 26, 2021
SCN5A20May 26, 2021
SCN8A3May 26, 2021
SCN9A19May 26, 2021
SCO11May 23, 2018
SCO219May 26, 2021
SCP210May 26, 2021
SDHAF11May 23, 2018
SEC23B11May 26, 2021
SELENON4May 26, 2021
SEPTIN91May 26, 2021
SERAC14May 23, 2018
SERPINC11May 26, 2021
SETBP12May 26, 2021
SETX21May 26, 2021
SFXN44May 23, 2018
SGCA2May 26, 2021
SGCB2May 26, 2021
SGSH22May 26, 2021
SH3BP23May 26, 2021
SH3PXD2B2Feb 28, 2018
SH3TC213May 26, 2021
SHOC21May 26, 2021
SIK11May 26, 2021
SKI1May 26, 2021
SKIV2L4May 26, 2021
SLC12A65May 26, 2021
SLC16A21May 26, 2021
SLC17A57May 26, 2021
SLC19A38May 23, 2018
SLC22A55May 26, 2021
SLC25A13May 23, 2018
SLC25A1211May 23, 2018
SLC25A151Feb 28, 2018
SLC25A198May 26, 2021
SLC25A201May 26, 2021
SLC25A222May 26, 2021
SLC25A32May 23, 2018
SLC25A42Jul 18, 2018
SLC25A463May 26, 2021
SLC26A16May 23, 2018
SLC26A21Feb 28, 2018
SLC26A5-AS11May 26, 2021
SLC2A17May 27, 2021
SLC2A25May 23, 2018
SLC33A11May 26, 2021
SLC34A31Jul 18, 2018
SLC35A11May 23, 2018
SLC35A22May 26, 2021
SLC35D11May 26, 2021
SLC39A132May 26, 2021
SLC45A21May 23, 2018
SLC4A127May 26, 2021
SLC52A27May 26, 2021
SLC5A74May 26, 2021
SLC6A131Feb 28, 2018
SLC6A31Feb 28, 2018
SLC6A81May 26, 2021
SLC9A31Feb 28, 2018
SLC9A3-AS11Feb 28, 2018
SMAD33May 26, 2021
SMAD419May 28, 2021
SMC1A1Feb 28, 2018
SMPD122May 26, 2021
SNAP296May 26, 2021
SNAPC51May 26, 2021
SNHG141May 26, 2021
SNTA11May 26, 2021
SOD14May 26, 2021
SON1Feb 28, 2018
SOS15May 26, 2021
SOX101May 26, 2021
SPART4May 26, 2021
SPAST13May 26, 2021
SPEG6May 26, 2021
SPG1122May 26, 2021
SPG211May 26, 2021
SPG77May 26, 2021
SPINK15May 26, 2021
SPR1May 26, 2021
SPTA171May 26, 2021
SPTAN12May 26, 2021
SPTB46May 28, 2021
SPTBN21Feb 28, 2018
SPTLC13May 26, 2021
SPTLC24May 26, 2021
SQSTM12May 26, 2021
SRCAP1Jul 18, 2018
SSUH23May 26, 2021
ST3GAL52May 26, 2021
STAC31May 26, 2021
STAT11May 26, 2021
STIM11May 26, 2021
STK1116Mar 9, 2018
STOM2May 26, 2021
STXBP12May 26, 2021
STXBP25May 26, 2021
SUCLA26May 23, 2018
SUCLG15May 23, 2018
SUGCT13May 23, 2018
SUMF111May 26, 2021
SURF17May 26, 2021
SYNE115May 26, 2021
SYNGAP11Feb 28, 2018
SZT26May 26, 2021
TACO12May 23, 2018
TAFAZZIN3May 26, 2021
TARS29May 23, 2018
TBC1D245May 26, 2021
TBX41Feb 28, 2018
TCAP3May 26, 2021
TCF42May 26, 2021
TECPR28May 26, 2021
TERC3May 26, 2021
TERT11May 26, 2021
TFG1May 26, 2021
TGFB21May 26, 2021
TGFB31May 26, 2021
TGFBR11May 26, 2021
TGFBR22May 26, 2021
THAP11Feb 28, 2018
THBD10May 26, 2021
THG1L2Feb 28, 2018
TIA13May 26, 2021
TIMM4414May 23, 2018
TIMM8A2May 23, 2018
TINF21May 26, 2021
TK23May 23, 2018
TMCO61May 23, 2018
TMEM126A5May 23, 2018
TMEM433May 26, 2021
TMEM706May 23, 2018
TMPPE2May 23, 2018
TNFRSF11A1Feb 28, 2018
TNFRSF13B4May 26, 2021
TNFRSF1A2May 26, 2021
TNNC12May 26, 2021
TNNI32May 26, 2021
TNNT23May 26, 2021
TNPO31May 26, 2021
TOE11Oct 31, 2017
TP5348May 26, 2021
TPI11May 26, 2021
TPK11May 23, 2018
TPM13May 26, 2021
TPM22May 26, 2021
TPP123May 26, 2021
TRAP118May 23, 2018
TRAPPC92Feb 28, 2018
TRDN2May 26, 2021
TRIM24May 26, 2021
TRIM325May 26, 2021
TRIM375May 23, 2018
TRIOBP1Feb 28, 2018
TRMU9May 23, 2018
TRPA11May 26, 2021
TRPV49May 26, 2021
TSC110May 26, 2021
TSC218May 27, 2021
TSFM4May 23, 2018
TSPAN14May 26, 2021
TTC193May 23, 2018
TTC372May 26, 2021
TTC7A8May 26, 2021
TTN207May 28, 2021
TTN-AS1135May 28, 2021
TTR4May 26, 2021
TUBA1A1Jul 18, 2018
TUBA82May 26, 2021
TUBB31May 26, 2021
TUBB62May 23, 2018
TUFM1May 23, 2018
TUSC31Feb 28, 2018
TWNK7May 26, 2021
TYMP24May 28, 2021
UBE3A1May 26, 2021
UGT1A9May 26, 2021
UGT1A19May 26, 2021
UGT1A109May 26, 2021
UGT1A39May 26, 2021
UGT1A49May 26, 2021
UGT1A59May 26, 2021
UGT1A69May 26, 2021
UGT1A79May 26, 2021
UGT1A89May 26, 2021
UGT1A99May 26, 2021
UPF3B1Feb 28, 2018
UQCRB1May 23, 2018
UQCRC26May 23, 2018
UQCRQ1May 23, 2018
USB14May 26, 2021
USH1G1Feb 28, 2018
USH2A1Jul 18, 2018
USP9X3Jul 18, 2018
VARS232May 26, 2021
VAV11Feb 28, 2018
VCL5May 26, 2021
VCP1May 26, 2021
VEPH11Feb 28, 2018
VLDLR2May 26, 2021
VPS13B12May 26, 2021
VPS13C1Feb 28, 2018
VPS37A1May 26, 2021
VPS454May 26, 2021
VWF7May 26, 2021
WAS3May 26, 2021
WASHC57May 26, 2021
WDR629May 26, 2021
WDR811Feb 28, 2018
WIPF11May 26, 2021
WNK110May 26, 2021
WRAP532May 26, 2021
WWOX5May 26, 2021
XIAP1May 26, 2021
XPA2May 26, 2021
XPC6May 26, 2021
XPNPEP32May 23, 2018
YARS12May 26, 2021
YARS28May 23, 2018
ZAP703May 26, 2021
ZBTB181Feb 28, 2018
ZC4H21Feb 28, 2018
ZDHHC241Feb 28, 2018
ZEB22May 26, 2021
ZFYVE2617May 26, 2021
ZNF1481Feb 28, 2018
ZNF2762May 26, 2021
ZNF518A1May 26, 2021

Condition

NameSubmissionsLast Updated
3-Methylglutaconic aciduria type 12Feb 28, 2018
3MC syndrome 11Feb 28, 2018
4p partial monosomy syndrome1Feb 28, 2018
ALG12-congenital disorder of glycosylation1Feb 28, 2018
ALG8-CDG2Feb 28, 2018
Aarskog syndrome1Feb 28, 2018
Achondrogenesis type II1Feb 28, 2018
Adams-Oliver syndrome 51Feb 28, 2018
Adenylosuccinate lyase deficiency1Feb 28, 2018
Adrenoleukodystrophy3Jul 18, 2018
Adult polyglucosan body disease2Feb 28, 2018
Afibrinogenemia, congenital2Feb 28, 2018
Agammaglobulinemia 2, autosomal recessive1Feb 28, 2018
Aicardi-Goutieres syndrome 61Feb 28, 2018
Aicardi-Goutieres syndrome 71Feb 28, 2018
Alpha-N-acetylgalactosaminidase deficiency type 11Feb 28, 2018
Alpha-N-acetylgalactosaminidase deficiency type 21Feb 28, 2018
Aminoacylase 1 deficiency1Feb 28, 2018
Arrhythmogenic right ventricular dysplasia, familial, 21Feb 28, 2018
Arterial calcification, generalized, of infancy, 12Feb 28, 2018
Arthrogryposis, distal, with impaired proprioception and touch3Feb 28, 2018
Aspartylglucosaminuria1Feb 28, 2018
Ataxia-hypogonadism-choroidal dystrophy syndrome1Feb 28, 2018
Ataxia-oculomotor apraxia 41Feb 28, 2018
Ataxia-telangiectasia syndrome1Jul 18, 2018
Atrial septal defect 7 with or without atrioventricular conduction defects1Feb 28, 2018
Autoinflammation with infantile enterocolitis2Feb 28, 2018
Autosomal recessive hypophosphatemic bone disease1Jul 18, 2018
Autosomal recessive limb-girdle muscular dystrophy type 2B1Feb 28, 2018
Autosomal recessive limb-girdle muscular dystrophy type 2G1Feb 28, 2018
Autosomal recessive multiple pterygium syndrome1Feb 28, 2018
Autosomal recessive polycystic kidney disease1Feb 28, 2018
Avascular necrosis of the head of femur1Feb 28, 2018
B-cell expansion with NFKB and T-cell anergy1Jul 18, 2018
Bainbridge-Ropers syndrome1Feb 28, 2018
Bardet-Biedl syndrome 11Feb 28, 2018
Bardet-Biedl syndrome 111Feb 28, 2018
Benign familial neonatal seizures 12Feb 28, 2018
Benign familial neonatal seizures 21Feb 28, 2018
Bethlem myopathy 12Feb 28, 2018
Bile acid synthesis defect, congenital, 61Jul 18, 2018
Biotin-responsive basal ganglia disease1Feb 28, 2018
Bloom syndrome2Jul 18, 2018
Bosch-Boonstra-Schaaf optic atrophy syndrome2Feb 28, 2018
CODAS syndrome1Feb 28, 2018
Catecholaminergic polymorphic ventricular tachycardia type 11Feb 28, 2018
Central core myopathy1Feb 28, 2018
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant1Feb 28, 2018
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 21Feb 28, 2018
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 41Feb 28, 2018
Cerebroretinal microangiopathy with calcifications and cysts 12Jul 18, 2018
Charcot-Marie-Tooth disease type 2B11Jul 18, 2018
Charcot-Marie-Tooth disease type 2D1Feb 28, 2018
Charcot-Marie-Tooth disease, axonal, type 2O1Feb 28, 2018
Charcot-Marie-Tooth disease, axonal, type 2w1Feb 28, 2018
Charcot-Marie-Tooth disease, demyelinating, type 4F1Feb 28, 2018
Charcot-Marie-Tooth disease, dominant intermediate B1Jul 18, 2018
Charlevoix-Saguenay spastic ataxia1Jul 18, 2018
Ciliary dyskinesia, primary, 131Feb 28, 2018
Ciliary dyskinesia, primary, 171Feb 28, 2018
Ciliary dyskinesia, primary, 211Feb 28, 2018
Ciliary dyskinesia, primary, 291Feb 28, 2018
Ciliary dyskinesia, primary, 34Feb 28, 2018
Ciliary dyskinesia, primary, 36, X-linked1Jul 18, 2018
Ciliary dyskinesia, primary, 51Feb 28, 2018
Ciliary dyskinesia, primary, 71Feb 28, 2018
Ciliary dyskinesia, primary, 91Jul 16, 2018
Coenzyme Q10 deficiency, primary, 41Feb 28, 2018
Coffin-Lowry syndrome1Feb 28, 2018
Cohen syndrome1Feb 28, 2018
Combined malonic and methylmalonic aciduria2Feb 28, 2018
Combined oxidative phosphorylation deficiency 102Feb 28, 2018
Combined oxidative phosphorylation deficiency 151Feb 28, 2018
Combined oxidative phosphorylation deficiency 191Feb 28, 2018
Combined oxidative phosphorylation deficiency 71Feb 28, 2018
Common variable immunodeficiency 8, with autoimmunity3Feb 28, 2018
Complement component 5 deficiency1Feb 28, 2018
Cone-rod dystrophy 151Feb 28, 2018
Cone-rod dystrophy 51Feb 28, 2018
Congenital disorder of glycosylation type 1N1Feb 28, 2018
Congenital disorder of glycosylation, type Ia2Jul 18, 2018
Congenital heart defects, multiple types, 41Feb 28, 2018
Congenital muscular dystrophy, LMNA-related1Jul 18, 2018
Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B51Feb 28, 2018
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A51Feb 28, 2018
Congenital muscular hypertrophy-cerebral syndrome1Feb 28, 2018
Congenital myasthenic syndrome 131Feb 28, 2018
Congenital myopathy with fiber type disproportion1Jul 18, 2018
Congenital myotonia, autosomal recessive form2Feb 28, 2018
Corneal dystrophy, Fuchs endothelial, 31Jul 18, 2018
Cortical malformations, occipital1Feb 28, 2018
Coxa plana1Feb 28, 2018
Curry-Hall syndrome1Feb 28, 2018
Cutis laxa, autosomal dominant 11Feb 28, 2018
Cystic fibrosis1Feb 28, 2018
Czech dysplasia, metatarsal type1Feb 28, 2018
DPAGT1-CDG1Feb 28, 2018
Deafness, autosomal dominant 112Feb 28, 2018
Deafness, autosomal recessive 21Feb 28, 2018
Deafness, autosomal recessive 281Feb 28, 2018
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct1Feb 28, 2018
Deafness, autosomal recessive 771Feb 28, 2018
Deficiency of alpha-mannosidase3Feb 28, 2018
Dejerine-Sottas disease1Feb 28, 2018
Dermatitis, atopic, 22Feb 28, 2018
Developmental and epileptic encephalopathy 941Feb 28, 2018
Diarrhea 71Feb 28, 2018
Diarrhea 8, secretory sodium, congenital1Feb 28, 2018
Dilated cardiomyopathy 1A1Jul 18, 2018
Dilated cardiomyopathy 1DD1Feb 28, 2018
Dilated cardiomyopathy 1G1Feb 28, 2018
Dilated cardiomyopathy 1O1Feb 28, 2018
Dilated cardiomyopathy 1S2Feb 28, 2018
Dilated cardiomyopathy 3B1Feb 28, 2018
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome1Jul 18, 2018
Distal hereditary motor neuronopathy type 51Feb 28, 2018
Distichiasis-lymphedema syndrome1Feb 28, 2018
Dyskeratosis congenita, autosomal dominant, 21Feb 28, 2018
Dystonia 28, childhood-onset1Jul 18, 2018
EAST syndrome1Feb 28, 2018
Early infantile epileptic encephalopathy 101Feb 28, 2018
Early infantile epileptic encephalopathy 112Jul 18, 2018
Early infantile epileptic encephalopathy 131Feb 28, 2018
Early infantile epileptic encephalopathy 162Feb 28, 2018
Early infantile epileptic encephalopathy 72Feb 28, 2018
Ehlers-Danlos syndrome, classic type2Jul 16, 2018
Eichsfeld type congenital muscular dystrophy1Jul 18, 2018
Ellis-van Creveld syndrome1Feb 28, 2018
Emery-Dreifuss muscular dystrophy 2, autosomal dominant1Jul 18, 2018
Emery-Dreifuss muscular dystrophy 3, autosomal recessive1Jul 18, 2018
Endplate acetylcholinesterase deficiency2Feb 28, 2018
Epilepsy, childhood absence 51Feb 28, 2018
Epilepsy, childhood absence 62Feb 28, 2018
Epilepsy, familial adult myoclonic, 51Feb 28, 2018
Epilepsy, familial focal, with variable foci 11Feb 28, 2018
Epilepsy, familial temporal lobe, 72Feb 28, 2018
Epilepsy, focal, with speech disorder and with or without mental retardation1Feb 28, 2018
Epilepsy, idiopathic generalized 92Jul 18, 2018
Epilepsy, idiopathic generalized, susceptibility to, 121Feb 28, 2018
Epileptic encephalopathy, early infantile, 271Jul 18, 2018
Epileptic encephalopathy, early infantile, 291Feb 28, 2018
Epileptic encephalopathy, early infantile, 421Jul 16, 2018
Epiphyseal dysplasia, multiple, 21Feb 28, 2018
Epiphyseal dysplasia, multiple, with myopia and conductive deafness1Feb 28, 2018
Episodic ataxia type 22Jul 18, 2018
Episodic ataxia, type 51Jul 18, 2018
Familial Mediterranean fever1Feb 28, 2018
Familial cold autoinflammatory syndrome 21Feb 28, 2018
Familial cold autoinflammatory syndrome 42Feb 28, 2018
Familial expansile osteolysis1Feb 28, 2018
Familial hypercholesterolemia 15May 27, 2021
Familial infantile myasthenia2Feb 28, 2018
Familial partial lipodystrophy 21Jul 18, 2018
Familial temporal lobe epilepsy 11Feb 28, 2018
Fanconi anemia, complementation group A1Feb 28, 2018
Floating-Harbor syndrome1Jul 18, 2018
Frank-Ter Haar syndrome2Feb 28, 2018
Fraser syndrome 12Feb 28, 2018
GM1 gangliosidosis type 21Jul 18, 2018
GM1 gangliosidosis type 31Jul 18, 2018
Galactosylceramide beta-galactosidase deficiency1Feb 28, 2018
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies1Feb 28, 2018
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1May 28, 2021
Glycogen storage disease, type II2Feb 28, 2018
Glycogen storage disease, type IV3Feb 28, 2018
Gorlin syndrome1Feb 28, 2018
Growth delay due to insulin-like growth factor I resistance1Feb 28, 2018
Heart-hand syndrome, Slovenian type1Jul 18, 2018
Heimler syndrome 11Feb 28, 2018
Hereditary hemorrhagic telangiectasia type 14May 27, 2021
Hereditary sensory neuropathy type IE1Feb 28, 2018
Hereditary spastic paraplegia 151Nov 19, 2019
Hereditary spastic paraplegia 21Jul 18, 2018
Hereditary spastic paraplegia 391Feb 28, 2018
Hereditary spastic paraplegia 71Jul 18, 2018
Holocarboxylase synthetase deficiency1Feb 28, 2018
Hutchinson-Gilford syndrome1Jul 18, 2018
Hyperinsulinemic hypoglycemia, familial, 11Feb 28, 2018
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1Feb 28, 2018
Hyperphosphatasia with mental retardation syndrome 12Feb 28, 2018
Hyperphosphatasia with mental retardation syndrome 41Feb 28, 2018
Hypertrophic cardiomyopathy 251Feb 28, 2018
Hypophosphatemic rickets, autosomal recessive, 22Feb 28, 2018
Hypotonia, ataxia, and delayed development syndrome1Feb 28, 2018
Ichthyosis vulgaris2Feb 28, 2018
Immunodeficiency 111Jul 18, 2018
Immunodeficiency 11b with atopic dermatitis1Jul 18, 2018
Immunodeficiency 121Feb 28, 2018
Immunodeficiency 152Feb 28, 2018
Infantile GM1 gangliosidosis2Jul 18, 2018
Infantile cerebellar-retinal degeneration2Jul 18, 2018
Infantile neuroaxonal dystrophy2Feb 28, 2018
Joubert syndrome 232Feb 28, 2018
Joubert syndrome 51Feb 28, 2018
Juvenile myelomonocytic leukemia1Feb 28, 2018
KBG syndrome2Feb 28, 2018
Kabuki syndrome 11Feb 28, 2018
Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism1Feb 28, 2018
Kniest dysplasia1Feb 28, 2018
Koolen-de Vries syndrome1Feb 28, 2018
Laron-type isolated somatotropin defect1Feb 28, 2018
Laurence-Moon syndrome1Feb 28, 2018
Leigh syndrome1Feb 28, 2018
Lethal congenital contracture syndrome 51Jul 18, 2018
Lethal multiple pterygium syndrome1Feb 28, 2018
Lethal tight skin contracture syndrome1Jul 18, 2018
Leukodystrophy, hypomyelinating, 21Feb 28, 2018
Limb-girdle muscular dystrophy, type 1B1Jul 18, 2018
Limb-girdle muscular dystrophy, type 2J4Feb 28, 2018
Limb-girdle muscular dystrophy, type 2Q1Feb 28, 2018
Limb-girdle muscular dystrophy-dystroglycanopathy, type C51Feb 28, 2018
Lissencephaly 31Jul 18, 2018
Lissencephaly, X-linked1Feb 28, 2018
Loeys-Dietz syndrome 21Feb 28, 2018
MASA syndrome1Feb 28, 2018
MASP2 deficiency1Feb 28, 2018
Macrocephaly, dysmorphic facies, and psychomotor retardation2Feb 28, 2018
Macular corneal dystrophy1Feb 28, 2018
Mandibuloacral dysplasia with type A lipodystrophy1Jul 18, 2018
Marfan syndrome1May 27, 2021
Mastocytosis1Feb 28, 2018
Mayer-Rokitansky-Kuster-Hauser syndrome1Feb 28, 2018
Medium-chain acyl-coenzyme A dehydrogenase deficiency1Feb 28, 2018
Megaconial type congenital muscular dystrophy1Feb 28, 2018
Megalencephalic leukoencephalopathy with subcortical cysts 11Feb 28, 2018
Meier-Gorlin syndrome 11Feb 28, 2018
Mental retardation 3, X-linked1Feb 28, 2018
Mental retardation, X-linked 1021Feb 28, 2018
Mental retardation, X-linked 191Feb 28, 2018
Mental retardation, X-linked 992Jul 18, 2018
Mental retardation, X-linked 99, syndromic, female-restricted1Feb 28, 2018
Mental retardation, X-linked, syndromic 131Feb 28, 2018
Mental retardation, autosomal dominant 11Feb 28, 2018
Mental retardation, autosomal dominant 131Feb 28, 2018
Mental retardation, autosomal dominant 191Jul 18, 2018
Mental retardation, autosomal dominant 211Jul 18, 2018
Mental retardation, autosomal dominant 221Feb 28, 2018
Mental retardation, autosomal dominant 261Feb 28, 2018
Mental retardation, autosomal dominant 51Feb 28, 2018
Mental retardation, autosomal dominant 61Jul 18, 2018
Mental retardation, autosomal recessive 132Feb 28, 2018
Mental retardation, autosomal recessive 151Feb 28, 2018
Mental retardation, autosomal recessive 181Feb 28, 2018
Mental retardation, autosomal recessive 371Feb 28, 2018
Mental retardation, autosomal recessive 382Jul 18, 2018
Mental retardation, autosomal recessive 462Feb 28, 2018
Mental retardation, autosomal recessive 71Feb 28, 2018
Mental retardation, syndromic 14, X-linked1Feb 28, 2018
Merosin deficient congenital muscular dystrophy3Feb 28, 2018
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation1Feb 28, 2018
Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive1Jul 18, 2018
Mitochondrial DNA depletion syndrome 21Feb 28, 2018
Mitochondrial DNA depletion syndrome 4B, MNGIE type2Feb 28, 2018
Mitochondrial DNA-depletion syndrome 3, hepatocerebral1Feb 28, 2018
Mitochondrial complex I deficiency3Jul 18, 2018
Mitochondrial complex III deficiency, nuclear type 21Feb 28, 2018
Mitochondrial complex IV deficiency1Feb 28, 2018
Mitochondrial trifunctional protein deficiency1Feb 28, 2018
Miyoshi muscular dystrophy 11Feb 28, 2018
Mucopolysaccharidosis type 61Feb 28, 2018
Mucopolysaccharidosis, MPS-III-A1Feb 28, 2018
Multiple acyl-CoA dehydrogenase deficiency1Feb 28, 2018
Multiple congenital anomalies-hypotonia-seizures syndrome 11Jul 18, 2018
Multiple congenital anomalies-hypotonia-seizures syndrome 31Feb 28, 2018
Multiple epiphyseal dysplasia 61Feb 28, 2018
Multiple epiphyseal dysplasia type 41Feb 28, 2018
Multiple gastrointestinal atresias1Feb 28, 2018
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects1Feb 28, 2018
Muscle AMP deaminase deficiency2Feb 28, 2018
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency1Feb 28, 2018
Myasthenia, limb-girdle, familial2Feb 28, 2018
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency1Feb 28, 2018
Myasthenic syndrome, congenital, 81Feb 28, 2018
Myoclonic epilepsy, familial infantile1Feb 28, 2018
Myopathy, centronuclear, 11Jul 18, 2018
Myopathy, centronuclear, 21Feb 28, 2018
Myopathy, distal, with anterior tibial onset1Feb 28, 2018
Myopathy, myofibrillar, 9, with early respiratory failure1Feb 28, 2018
Myopathy, vacuolar, with casq1 aggregates1Feb 28, 2018
Myopia, high, with cataract and vitreoretinal degeneration1Feb 28, 2018
Namaqualand hip dysplasia1Feb 28, 2018
Navajo neurohepatopathy1Feb 28, 2018
Nemaline myopathy 26Feb 28, 2018
Neurodegeneration with brain iron accumulation 2b1Feb 28, 2018
Niemann-Pick disease type C12Feb 28, 2018
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia1Feb 28, 2018
Norman-Roberts syndrome1Feb 28, 2018
Otospondylomegaepiphyseal dysplasia, autosomal dominant1Feb 28, 2018
Paget disease of bone 2, early-onset1Feb 28, 2018
Parkinson disease 141Feb 28, 2018
Parkinson disease 23, autosomal recessive early-onset1Feb 28, 2018
Parkinsonism-dystonia, infantile, 11Feb 28, 2018
Paroxysmal nocturnal hemoglobinuria 21Feb 28, 2018
Pelizaeus-Merzbacher disease1Jul 18, 2018
Pena-Shokeir syndrome type I1Feb 28, 2018
Periventricular nodular heterotopia 11Feb 28, 2018
Peroxisomal acyl-CoA oxidase deficiency1Feb 28, 2018
Peroxisome biogenesis disorder 1A (Zellweger)1Feb 28, 2018
Peroxisome biogenesis disorder 1B2Feb 28, 2018
Peroxisome biogenesis disorder 2A (Zellweger)1Feb 28, 2018
Peroxisome biogenesis disorder 2B1Feb 28, 2018
Peroxisome biogenesis disorder 5B2Feb 28, 2018
Peroxisome biogenesis disorder 5a (zellweger)2Feb 28, 2018
Peroxisome biogenesis disorder 7B1Feb 28, 2018
Peters plus syndrome1Feb 28, 2018
Phenylketonuria2Feb 28, 2018
Phosphoglycerate kinase 1 deficiency1Feb 28, 2018
Phytanic acid storage disease1Feb 28, 2018
Pigmentary pallidal degeneration1Feb 28, 2018
Pitt-Hopkins syndrome1Jul 18, 2018
Pitt-Hopkins-like syndrome 21Feb 28, 2018
Platyspondylic dysplasia, Torrance type1Feb 28, 2018
Primary autosomal recessive microcephaly 11Feb 28, 2018
Primary autosomal recessive microcephaly 33Feb 28, 2018
Primary autosomal recessive microcephaly 52Feb 28, 2018
Primary pulmonary hypertension 41Feb 28, 2018
Progressive sclerosing poliodystrophy3Feb 28, 2018
Proline dehydrogenase deficiency2Feb 28, 2018
Pyruvate dehydrogenase E2 deficiency2Feb 28, 2018
Renal carnitine transport defect1Feb 28, 2018
Rett syndrome2Jul 18, 2018
Rhizomelic chondrodysplasia punctata type 51Feb 28, 2018
Robinow syndrome, autosomal recessive1Feb 28, 2018
Sarcotubular myopathy1Feb 28, 2018
Schwartz-Jampel syndrome2Jul 18, 2018
Seizures, benign familial infantile, 32Jul 18, 2018
Seizures, benign familial infantile, 51Feb 28, 2018
Seizures, scoliosis, and macrocephaly syndrome2Feb 28, 2018
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome3Jul 18, 2018
Short stature, idiopathic, autosomal2Feb 28, 2018
Singleton-Merten syndrome 11Feb 28, 2018
Spastic ataxia 5, autosomal recessive1Feb 28, 2018
Spastic paraplegia 353Feb 28, 2018
Spastic paraplegia 52, autosomal recessive1Feb 28, 2018
Spastic paraplegia 55, autosomal recessive1Feb 28, 2018
Spastic paraplegia 64, autosomal recessive1Feb 28, 2018
Spherocytosis type 31Feb 28, 2018
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant1Feb 28, 2018
Spinocerebellar ataxia type 281Feb 28, 2018
Spinocerebellar ataxia type 51Feb 28, 2018
Spinocerebellar ataxia, autosomal recessive 141Feb 28, 2018
Spinocerebellar ataxia, autosomal recessive 81Feb 28, 2018
Spondyloepimetaphyseal dysplasia with joint laxity, type 21Feb 28, 2018
Spondyloepiphyseal dysplasia congenita1Feb 28, 2018
Spondyloepiphyseal dysplasia, stanescu type1Feb 28, 2018
Spondylometaphyseal dysplasia1Feb 28, 2018
Spondyloperipheral dysplasia-short ulna syndrome1Feb 28, 2018
Steel syndrome1Feb 28, 2018
Stickler syndrome type 11Feb 28, 2018
Stickler syndrome, type 41Feb 28, 2018
Stickler syndrome, type 51Feb 28, 2018
Stickler syndrome, type I, nonsyndromic ocular1Feb 28, 2018
Supravalvar aortic stenosis1Feb 28, 2018
Symmetrical dyschromatosis of extremities1Feb 28, 2018
Syndromic X-linked intellectual disability Turner type1Feb 28, 2018
Tay-Sachs disease1Jul 18, 2018
Temtamy syndrome1Feb 28, 2018
Thyroglobulin synthesis defect1Feb 28, 2018
Thyroid dyshormonogenesis 61Feb 28, 2018
Tibial muscular dystrophy1Feb 28, 2018
Torsion dystonia 61Feb 28, 2018
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome1Feb 28, 2018
Tuberous sclerosis 21Feb 28, 2018
Ullrich congenital muscular dystrophy 12Feb 28, 2018
Urofacial syndrome 11Feb 28, 2018
Usher syndrome type 11Feb 28, 2018
Usher syndrome, type 1G1Feb 28, 2018
Usher syndrome, type 2A1Jul 18, 2018
Usher syndrome, type 3B1Feb 28, 2018
Ventricular septal defect 31Feb 28, 2018
Very long chain acyl-CoA dehydrogenase deficiency1Feb 28, 2018
Waardenburg syndrome type 4A1Feb 28, 2018
Wieacker-Wolff, X-linked recessive1Feb 28, 2018
Wilson disease2Feb 28, 2018
X-linked agammaglobulinemia1Feb 28, 2018
X-linked agammaglobulinemia with growth hormone deficiency1Feb 28, 2018
X-linked chondrodysplasia punctata 11Feb 28, 2018
Xia-Gibbs syndrome1Feb 28, 2018
ZTTK syndrome1Feb 28, 2018
not provided6137May 28, 2021
not specified464Oct 31, 2017
von Willebrand disease type 21Feb 28, 2018

Testing in GTR

Disease nameNumber of tests
3-Methylglutaconic aciduria1 test
3-Methylglutaconic aciduria type 24 tests
46,XX testicular disorder of sex development1 test
46,xx gonadal dysgenesis, complete, sry-positive1 test
ANKRD1-related dilated cardiomyopathy2 tests
Abacavir hypersensitivity1 test
Abnormality of neuronal migration1 test
Acrodysostosis 1 with or without hormone resistance1 test
Activated PI3K-delta syndrome1 test
Acute intermittent porphyria2 tests
Acute myeloid leukemia3 tests
Adams-Oliver syndrome 51 test
Adenylate kinase deficiency, hemolytic anemia due to2 tests
Adrenoleukodystrophy1 test
Adult Krabbe disease1 test
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy1 test
Afibrinogenemia1 test
Afibrinogenemia, congenital2 tests
Agammaglobulinemia1 test
Agammaglobulinemia 2, autosomal recessive1 test
Agammaglobulinemia 3, autosomal recessive1 test
Agammaglobulinemia 4, autosomal recessive1 test
Agammaglobulinemia 5, autosomal dominant1 test
Agammaglobulinemia 6, autosomal recessive1 test
Agammaglobulinemia 7, autosomal recessive2 tests
Agammaglobulinemia 8, autosomal dominant1 test
Alagille syndrome 11 test
Alagille syndrome 21 test
Alkaptonuria1 test
Allopurinol response1 test
Alpha-1-antitrypsin deficiency1 test
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity1 test
Alzheimer disease 21 test
Ambiguous genitalia1 test
Amyloidogenic transthyretin amyloidosis1 test
Amyotrophic lateral sclerosis1 test
Amyotrophy, hereditary neuralgic1 test
Andersen Tawil syndrome2 tests
Anemia, nonspherocytic hemolytic, due to G6PD deficiency4 tests
Aneurysmal bone cyst1 test
Angelman syndrome2 tests
Angelman syndrome due to paternal uniparental disomy of chromosome 151 test
Anomaly of sex chromosome3 tests
Antithrombin III deficiency1 test
Aortic valve disease 11 test
Apolipoprotein A-II deficiency1 test
Arrhythmogenic cardiomyopathy2 tests
Arrhythmogenic right ventricular cardiomyopathy, type 102 tests
Arrhythmogenic right ventricular cardiomyopathy, type 111 test
Arrhythmogenic right ventricular cardiomyopathy, type 122 tests
Arrhythmogenic right ventricular cardiomyopathy, type 52 tests
Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair1 test
Arrhythmogenic right ventricular dysplasia 82 tests
Arrhythmogenic right ventricular dysplasia 92 tests
Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair1 test
Arrhythmogenic right ventricular dysplasia, familial, 22 tests
Arterial tortuosity syndrome1 test
Ashkenazi Jewish disorders1 test
Asperger syndrome1 test
Ataxia-telangiectasia syndrome1 test
Atazanavir response2 tests
Atomoxetine response1 test
Atorvastatin response1 test
Attenuated familial adenomatous polyposis1 test
Atypical hemolytic uremic syndrome2 tests
Atypical mycobacteriosis, familial, X-linked 21 test
Autism spectrum disorder2 tests
Autoimmune disease, multisystem, infantile-onset, 11 test
Autoimmune disease, multisystem, infantile-onset, 21 test
Autoimmune lymphoproliferative syndrome1 test
Autoimmune lymphoproliferative syndrome, type III1 test
Autoinflammation with infantile enterocolitis1 test
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated2 tests
Autoinflammatory syndrome1 test
Autoinflammatory syndrome, familial, Behcet-like1 test
Autosomal chromosomal disorder5 tests
Autosomal recessive agammaglobulinemia 11 test
Autosomal recessive familial Mediterranean fever1 test
Autosomal recessive polycystic kidney disease1 test
Autosomal recessive severe congenital neutropenia1 test
Autosomal uniparental disomy1 test
Azathioprine response1 test
B-cell expansion with NFKB and T-cell anergy1 test
Bare lymphocyte syndrome 21 test
Bare lymphocyte syndrome type 11 test
Bare lymphocyte syndrome type 2, complementation group A1 test
Becker muscular dystrophy1 test
Beckwith-Wiedemann syndrome2 tests
Belinostat Response2 tests
Beta-thalassemia and related diseases1 test
Beta-thalassemia, dominant inclusion body type2 tests
Biotinidase deficiency1 test
Blau syndrome1 test
Bloom syndrome1 test
Brain small vessel disease 1 with or without ocular anomalies1 test
Brugada syndrome1 test
Bupropion response1 test
Burkitt lymphoma1 test
CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy1 test
CHARGE association1 test
Capecitabine response2 tests
Capillary malformation-arteriovenous malformation 11 test
Carbamazepine hypersensitivity1 test
Carbamazepine response1 test
Cardiac valvular dysplasia, X-linked1 test
Cardiofaciocutaneous syndrome 12 tests
Cardiofaciocutaneous syndrome 22 tests
Cardiofaciocutaneous syndrome 32 tests
Cardiofaciocutaneous syndrome 42 tests
Cardiomyopathy1 test
Cardiomyopathy, dilated, 1NN1 test
Cardiomyopathy, hypertrophic, 12 tests
Cardiomyopathy, hypertrophic, 1, digenic2 tests
Cardiomyopathy, hypertrophic, 102 tests
Cardiomyopathy, hypertrophic, 112 tests
Cardiomyopathy, hypertrophic, 122 tests
Cardiomyopathy, hypertrophic, 22 tests
Cardiomyopathy, hypertrophic, 202 tests
Cardiomyopathy, hypertrophic, 23, with or without LVNC2 tests
Cardiomyopathy, hypertrophic, 42 tests
Carney complex1 test
Carney complex, type 11 test
Carnitine acylcarnitine translocase deficiency1 test
Carnitine palmitoyltransferase II deficiency1 test
Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders1 test
Catechol-o-methyltransferase deficiency1 test
Catecholaminergic polymorphic ventricular tachycardia2 tests
Cd8 deficiency, familial1 test
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy1 test
Cerebroretinal microangiopathy with calcifications and cysts1 test
Charcot-Marie-Tooth disease1 test
Charcot-Marie-Tooth disease, type IA1 test
Chlorpropamide response1 test
Cholestasis, infantile, NR1H4 related1 test
Cholestasis, progressive familial intrahepatic, 51 test
Chromosome 22q11.2 microduplication syndrome1 test
Chronic granulomatous disease2 tests
Chronic granulomatous disease, X-linked2 tests
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 21 test
Chronic infantile neurological, cutaneous and articular syndrome1 test
Chronic myelogenous leukemia, BCR-ABL1 positive1 test
Chronic myelomonocytic leukemia1 test
Citalopram response2 tests
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1 test
Classic homocystinuria1 test
Clopidogrel response1 test
Cobalamin C disease1 test
Codeine response1 test
Cohen syndrome1 test
Cold-induced sweating syndrome 11 test
Cold-induced sweating syndrome 21 test
Combined cellular and humoral immune defects with granulomas2 tests
Combined d-2- and l-2-hydroxyglutaric aciduria1 test
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia1 test
Combined immunodeficiency due to ORAI1 deficiency1 test
Combined immunodeficiency due to STIM1 deficiency1 test
Combined immunodeficiency due to ZAP70 deficiency1 test
Combined immunodeficiency, X-linked2 tests
Common variable immunodeficiency 12 tests
Common variable immunodeficiency 101 test
Common variable immunodeficiency 112 tests
Common variable immunodeficiency 21 test
Common variable immunodeficiency 31 test
Common variable immunodeficiency 41 test
Common variable immunodeficiency 51 test
Common variable immunodeficiency 61 test
Common variable immunodeficiency 71 test
Common variable immunodeficiency 8, with autoimmunity2 tests
Complement factor B deficiency1 test
Complement factor d deficiency1 test
Complete trisomy 13 syndrome3 tests
Complete trisomy 18 syndrome3 tests
Complete trisomy 21 syndrome3 tests
Congenital adrenal hyperplasia1 test
Congenital bilateral aplasia of vas deferens from CFTR mutation2 tests
Congenital central hypoventilation1 test
Congenital chromosomal disease5 tests
Congenital contractural arachnodactyly1 test
Congenital defect of folate absorption1 test
Congenital disorder of glycosylation1 test
Congenital disorder of glycosylation, type Ia1 test
Congenital dyserythropoietic anemia2 tests
Congenital dyserythropoietic anemia, type I1 test
Congenital dyserythropoietic anemia, type II1 test
Congenital dyserythropoietic anemia, type IV1 test
Congenital long QT syndrome1 test
Congenital myasthenic syndrome1 test
Congenital myopathy1 test
Congenital neutropenia1 test
Congenital sensory neuropathy with selective loss of small myelinated fibers1 test
Costello syndrome2 tests
Crigler-Najjar syndrome4 tests
Crigler-Najjar syndrome type 11 test
Crigler-Najjar syndrome, type II1 test
Cutis laxa, X-linked1 test
Cyclical neutropenia1 test
Cystic fibrosis2 tests
Cystinuria1 test
D-2-hydroxyglutaric aciduria1 test
D-2-hydroxyglutaric aciduria 11 test
D-2-hydroxyglutaric aciduria 21 test
Danon disease3 tests
Deafness, autosomal dominant 34, with or without inflammation1 test
Deficiency of butyryl-CoA dehydrogenase1 test
Deficiency of malonyl-CoA decarboxylase1 test
Dehydrated hereditary stomatocytosis 21 test
Delayed puberty1 test
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency3 tests
Dentatorubral-pallidoluysian atrophy1 test
DiGeorge Syndrome1 test
Diamond-Blackfan anemia 12 tests
Diffuse interstitial pulmonary fibrosis1 test
Dihydropyrimidine dehydrogenase deficiency2 tests
Dilated cardiomyopathy 1A3 tests
Dilated cardiomyopathy 1AA2 tests
Dilated cardiomyopathy 1BB1 test
Dilated cardiomyopathy 1C2 tests
Dilated cardiomyopathy 1CC2 tests
Dilated cardiomyopathy 1DD2 tests
Dilated cardiomyopathy 1E2 tests
Dilated cardiomyopathy 1EE2 tests
Dilated cardiomyopathy 1FF2 tests
Dilated cardiomyopathy 1G3 tests
Dilated cardiomyopathy 1I3 tests
Dilated cardiomyopathy 1II2 tests
Dilated cardiomyopathy 1JJ2 tests
Dilated cardiomyopathy 1KK2 tests
Dilated cardiomyopathy 1L2 tests
Dilated cardiomyopathy 1M2 tests
Dilated cardiomyopathy 1O2 tests
Dilated cardiomyopathy 1P2 tests
Dilated cardiomyopathy 1R2 tests
Dilated cardiomyopathy 1S2 tests
Dilated cardiomyopathy 1W2 tests
Dilated cardiomyopathy 1Y2 tests
Dilated cardiomyopathy 1Z2 tests
Dilated cardiomyopathy with woolly hair and keratoderma1 test
Disorder of fatty acid metabolism1 test
Disorder of fatty acid oxidation and ketogenesis1 test
Disorder of ketone body transport1 test
Disorder of phenylalanine metabolism1 test
Disorder of the urea cycle metabolism1 test
Disorder of tyrosine metabolism1 test
Distal hereditary motor neuronopathy 2D1 test
Distal hereditary motor neuronopathy type 2A1 test
Distal hereditary motor neuronopathy type 2B1 test
Distal hereditary motor neuronopathy type 2C1 test
Distal hereditary motor neuronopathy type 51 test
Distal hereditary motor neuronopathy type 5B1 test
Distal hereditary motor neuronopathy type 7B1 test
Distal myopathy1 test
Distal spinal muscular atrophy, autosomal recessive 41 test
Distal weakness1 test
Dizygotic twins1 test
Drug Response and Drug Metabolism15 tests
Drug metabolism or response13 tests
Duchenne muscular dystrophy1 test
Dursun syndrome2 tests
Dysfibrinogenemia1 test
Dyskeratosis congenita2 tests
Dyskeratosis congenita autosomal recessive 11 test
Dyskeratosis congenita, X-linked2 tests
Dyskeratosis congenita, autosomal dominant 11 test
Dyskeratosis congenita, autosomal dominant, 21 test
Dyskeratosis congenita, autosomal dominant, 31 test
Dyskeratosis congenita, autosomal dominant, 41 test
Dyskeratosis congenita, autosomal recessive 21 test
Dyskeratosis congenita, autosomal recessive, 31 test
Dyskeratosis congenita, autosomal recessive, 41 test
Dyskeratosis congenita, autosomal recessive, 51 test
Dysplasminogenemia1 test
Dystrophinopathies1 test
Early infantile epileptic encephalopathy 111 test
Early infantile epileptic encephalopathy 21 test
Early infantile epileptic encephalopathy 41 test
Early infantile epileptic encephalopathy 51 test
Early infantile epileptic encephalopathy with suppression bursts1 test
Ectodermal dysplasia and immunodeficiency 12 tests
Ectodermal dysplasia and immunodeficiency 21 test
Ectopia lentis2 tests
Ectopia lentis, isolated, autosomal dominant1 test
Efavirenz response1 test
Ehlers-Danlos syndrome2 tests
Ehlers-Danlos syndrome classic type 21 test
Ehlers-Danlos syndrome dermatosparaxis type1 test
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss1 test
Ehlers-Danlos syndrome, cardiac valvular type1 test
Ehlers-Danlos syndrome, classic type1 test
Ehlers-Danlos syndrome, classic type I2 tests
Ehlers-Danlos syndrome, hydroxylysine-deficient1 test
Ehlers-Danlos syndrome, musculocontractural type1 test
Ehlers-Danlos syndrome, procollagen proteinase deficient1 test
Ehlers-Danlos syndrome, type 42 tests
Ehlers-danlos syndrome, arthrochalasia type, 21 test
Elliptocytosis 12 tests
Elliptocytosis 22 tests
Elliptocytosis 32 tests
Elliptocytosis 42 tests
Emery-Dreifuss muscular dystrophy1 test
Encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency1 test
Encephalopathy with Epilepsy1 test
Epidermodysplasia verruciformis, susceptibility to, 41 test
Epilepsy1 test
Epilepsy, focal, with speech disorder and with or without mental retardation1 test
Epileptic encephalopathy, early infantile, 11 test
Epileptic encephalopathy, early infantile, 31 test
Epileptic encephalopathy, early infantile, 431 test
Episodic pain syndrome, familial, 21 test
Episodic pain syndrome, familial, 31 test
Erythrocytosis1 test
Erythropoietic protoporphyria1 test
Escitalopram response2 tests
Fabry disease3 tests
Fabry disease, cardiac variant2 tests
Factor H deficiency1 test
Factor V deficiency1 test
Factor VII deficiency1 test
Factor X deficiency1 test
Factor XII deficiency disease1 test
Factor XIII, A subunit, deficiency of1 test
Factor XIII, b subunit, deficiency of1 test
Familial Mediterranean fever2 tests
Familial adenomatous polyposis 11 test
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial aortopathy2 tests
Familial atrial myxoma1 test
Familial atypical mycobacteriosis, type 1, X-linked1 test
Familial cold autoinflammatory syndrome2 tests
Familial cold autoinflammatory syndrome 11 test
Familial cold autoinflammatory syndrome 21 test
Familial cold autoinflammatory syndrome 32 tests
Familial dysautonomia2 tests
Familial episodic pain syndrome 11 test
Familial erythrocytosis1 test
Familial febrile seizures 81 test
Familial hemiplegic migraine1 test
Familial hemophagocytic lymphohistiocytosis1 test
Familial hypercholesterolemia1 test
Familial hypercholesterolemia 11 test
Familial hypercholesterolemia 21 test
Familial hypercholesterolemia 31 test
Familial hypercholesterolemia 41 test
Familial hyperkalemic periodic paralysis1 test
Familial hypertrophic cardiomyopathy 132 tests
Familial hypertrophic cardiomyopathy 152 tests
Familial hypertrophic cardiomyopathy 162 tests
Familial hypertrophic cardiomyopathy 182 tests
Familial hypertrophic cardiomyopathy 32 tests
Familial hypertrophic cardiomyopathy 62 tests
Familial hypertrophic cardiomyopathy 72 tests
Familial hypertrophic cardiomyopathy 82 tests
Familial hypertrophic cardiomyopathy 93 tests
Familial hypoalphalipoproteinemia1 test
Familial intrahepatic cholestasis1 test
Familial isolated dilated cardiomyopathy1 test
Familial isolated hypoparathyroidism1 test
Familial mediterranean fever, autosomal dominant1 test
Familial primary hyperparathyroidism1 test
Familial thoracic aortic aneurysm and aortic dissection1 test
Familial type 3 hyperlipoproteinemia1 test
Familial visceral amyloidosis, Ostertag type3 tests
Fanconi anemia1 test
Fanconi anemia, complementation group C1 test
Febrile seizures, familial, 111 test
Febrile seizures, familial, 3a1 test
Fibrous dysplasia of jaw1 test
Fluoropyrimidine response2 tests
Fluorouracil response2 tests
Fluoxetine response2 tests
Fluvoxamine response2 tests
Focal epilepsy1 test
Follicular lymphoma1 test
Fragile X syndrome1 test
Fragile X tremor/ataxia syndrome1 test
Frontotemporal dementia2 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis1 test
GLUT1 deficiency syndrome2 tests
GLUT1 deficiency syndrome 21 test
GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY1 test
Galactosemia2 tests
Galactosylceramide beta-galactosidase deficiency1 test
Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to2 tests
Gardner syndrome1 test
Gaucher disease1 test
Gaucher disease type I1 test
Generalized epilepsy with febrile seizures plus1 test
Generalized epilepsy with febrile seizures plus, type 11 test
Generalized epilepsy with febrile seizures plus, type 91 test
Gilbert syndrome4 tests
Gilbert syndrome, susceptibility to2 tests
Glibenclamide response1 test
Glimepiride response1 test
Glipizide response1 test
Global developmental delay1 test
Glucose-6-phosphate transport defect1 test
Glutaric acidemia IIA1 test
Glutaric acidemia IIB1 test
Glutaric acidemia IIC1 test
Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to2 tests
Glycogen storage disease1 test
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1 test
Glycogen storage disease, type I2 tests
Glycogen storage disease, type II1 test
Glycogen storage disease, type VII2 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative1 test
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III1 test
Growth hormone insensitivity syndrome with immune dysregulation1 test
HNSHA due to aldolase A deficiency2 tests
Haim-Munk syndrome1 test
Hematologic disorders1 test
Hematologic neoplasm3 tests
Heme oxygenase 1 deficiency2 tests
Hemolytic anemia2 tests
Hemolytic anemia due to glutathione reductase deficiency1 test
Hemolytic anemia due to hexokinase deficiency2 tests
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency2 tests
Hemophilia2 tests
Hemophilia B Leyden1 test
Hepatitis C virus infection, response to therapy of1 test
Hereditary ATTR amyloidosis3 tests
Hereditary Paraganglioma-Pheochromocytoma Syndromes1 test
Hereditary angioedema type 31 test
Hereditary cancer-predisposing syndrome1 test
Hereditary coproporphyria2 tests
Hereditary diffuse gastric cancer1 test
Hereditary elliptocytosis2 tests
Hereditary factor IX deficiency disease2 tests
Hereditary factor VIII deficiency disease1 test
Hereditary factor X deficiency disease1 test
Hereditary factor XI deficiency disease1 test
Hereditary hearing loss and deafness1 test
Hereditary hemorrhagic telangiectasia1 test
Hereditary hemorrhagic telangiectasia type 11 test
Hereditary hyperbilirubinemia1 test
Hereditary insensitivity to pain with anhidrosis1 test
Hereditary liability to pressure palsies1 test
Hereditary motor and sensory neuropathy1 test
Hereditary non-spherocytic hemolytic anemia2 tests
Hereditary nonpolyposis colon cancer3 tests
Hereditary pancreatitis3 tests
Hereditary pyropoikilocytosis2 tests
Hereditary sensory and autonomic neuropathy type IC1 test
Hereditary sensory and autonomic neuropathy type IIA1 test
Hereditary sensory and autonomic neuropathy type IIB1 test
Hereditary sensory and autonomic neuropathy type IIC1 test
Hereditary sensory neuropathy type 1D1 test
Hereditary sensory neuropathy type IE1 test
Hereditary spastic paraplegia1 test
Hereditary spherocytosis2 tests
Hereditary stomatocytosis2 tests
Hereditary thrombophilia due to congenital protein C deficiency1 test
Hereditary thrombophilia due to congenital protein S deficiency1 test
Hermansky-Pudlak syndrome 21 test
Hexosaminidase A deficiency, adult type1 test
Hirschsprung disease1 test
Histiocytic medullary reticulosis2 tests
Hoyeraal-Hreidarsson syndrome1 test
Huntington disease1 test
Hyper-IgE syndrome1 test
Hyper-IgM syndrome type 11 test
Hyper-IgM syndrome type 21 test
Hyper-IgM syndrome type 31 test
Hyper-IgM syndrome type 51 test
Hypercoagulability1 test
Hyperimmunoglobulin D with periodic fever2 tests
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive1 test
Hyperimmunoglobulin M syndrome2 tests
Hypertrophic cardiomyopathy2 tests
Hypocalcemia, autosomal dominant 11 test
Hypocalciuric hypercalcemia, familial, type 11 test
Hypodysfibrinogenemia, congenital1 test
Hypokalemic periodic paralysis1 test
IL21R immunodeficiency2 tests
IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE1 test
Idiopathic Pulmonary Fibrosis1 test
Idiopathic hypereosinophilic syndrome1 test
Immunodeficiency 111 test
Immunodeficiency 11b with atopic dermatitis1 test
Immunodeficiency 122 tests
Immunodeficiency 142 tests
Immunodeficiency 151 test
Immunodeficiency 15a1 test
Immunodeficiency 161 test
Immunodeficiency 17, CD3 gamma deficient2 tests
Immunodeficiency 18, severe combined immunodeficiency variant1 test
Immunodeficiency 191 test
Immunodeficiency 221 test
Immunodeficiency 241 test
Immunodeficiency 26 with or without neurologic abnormalities1 test
Immunodeficiency 31C1 test
Immunodeficiency 31a1 test
Immunodeficiency 362 tests
Immunodeficiency 381 test
Immunodeficiency 38 with basal ganglia calcification1 test
Immunodeficiency 81 test
Immunodeficiency due to defect in mapbp-interacting protein1 test
Immunodeficiency syndrome with autoimmunity1 test
Immunodeficiency, Polyendocrinopathy, and Enteropathy X-Linked Syndrome1 test
Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia1 test
Immunodeficiency, common variable, 131 test
Immunoglobulin A deficiency 21 test
Inborn errors of metabolism1 test
Incontinentia pigmenti syndrome2 tests
Infantile Krabbe disease1 test
Infertility1 test
Inflammatory bowel disease1 test
Inflammatory bowel disease 25, autosomal recessive2 tests
Inflammatory bowel disease 28, autosomal recessive2 tests
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies1 test
Irinotecan response2 tests
Jervell and Lange-Nielsen syndrome1 test
Juvenile (Subacute) Hexosaminidase A Deficiency1 test
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1 test
Juvenile polyposis syndrome1 test
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome3 tests
Kennedy disease1 test
Ketamine response1 test
Kidney disease1 test
Klinefelter syndrome2 tests
L-2-hydroxyglutaric aciduria1 test
LEOPARD syndrome 12 tests
LEOPARD syndrome 23 tests
LEOPARD syndrome 32 tests
Late-infantile/juvenile Krabbe disease1 test
Left ventricular noncompaction 11 test
Leigh syndrome1 test
Leigh syndrome due to mitochondrial complex IV deficiency1 test
Leukocyte adhesion deficiency2 tests
Leukocyte adhesion deficiency 11 test
Leukocyte adhesion deficiency, type III1 test
Leukoencephalopathy with dystonia and motor neuropathy1 test
Li-Fraumeni syndrome1 test
Lig4 syndrome2 tests
Loeys-Dietz syndrome1 test
Loeys-Dietz syndrome 11 test
Loeys-Dietz syndrome 21 test
Loeys-Dietz syndrome 41 test
Loeys-Dietz syndrome 51 test
Long QT syndrome1 test
Long QT syndrome 91 test
Lymphedema, primary, with myelodysplasia3 tests
Lymphoblastic leukemia, acute, with lymphomatous features1 test
Lymphoproliferative syndrome 11 test
Lymphoproliferative syndrome 1, X-linked1 test
Lymphoproliferative syndrome 22 tests
Lynch syndrome2 tests
Lysosomal storage disease1 test
MASS syndrome2 tests
MYH-associated polyposis1 test
Majeed syndrome1 test
Male infertility1 test
Malignant hematological disorder1 test
Malignant lymphoma, large B-cell, diffuse2 tests
Mantle cell lymphoma1 test
Maple syrup urine disease1 test
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections1 test
Marfan lipodystrophy syndrome1 test
Marfan syndrome2 tests
Mast cell disease, systemic1 test
McLeod neuroacanthocytosis syndrome1 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
Mercaptopurine response1 test
Meretoja syndrome1 test
Metabolic myopathy1 test
Metachondromatosis1 test
Metachromatic leukodystrophy1 test
Methadone response1 test
Methylmalonic acidemia2 tests
Methylmalonic acidemia with homocystinuria cblD1 test
Mevalonic aciduria2 tests
Migraine1 test
Mitochondrial complex I deficiency, mitochondrial type1 test
Mitochondrial complex III deficiency1 test
Mitochondrial diseases4 tests
Mitochondrial disorder due to a defect in mitochondrial protein synthesis1 test
Mitochondrial encephalomyopathy1 test
Mitochondrial encephalopathy1 test
Mitochondrial myopathy1 test
Mitochondrial myopathy and sideroblastic anemia1 test
Mitochondrial myopathy with diabetes1 test
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy1 test
Mitochondrial myopathy, isolated1 test
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome1 test
Mitochondrial neurogastrointestinal encephalomyopathy1 test
Mitochondrial oxidative phosphorylation disorder1 test
Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA1 test
Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA1 test
Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies1 test
Motor neuron disease1 test
Mucolipidosis type II1 test
Mucolipidosis type IV1 test
Mucopolysaccharidosis type 11 test
Mucopolysaccharidosis type 61 test
Mucopolysaccharidosis, MPS-II1 test
Mucopolysaccharidosis, MPS-III-A1 test
Mucopolysaccharidosis, MPS-III-B1 test
Mucopolysaccharidosis, MPS-III-C1 test
Mucopolysaccharidosis, MPS-III-D1 test
Mucosa-associated lymphoma1 test
Multiple acyl-CoA dehydrogenase deficiency1 test
Multiple endocrine neoplasia1 test
Multiple fibrofolliculomas1 test
Multiple gastrointestinal atresias1 test
Muscular dystrophy1 test
Myelodysplastic syndrome2 tests
Myeloperoxidase deficiency1 test
Myhre syndrome1 test
Myofibrillar myopathy1 test
Myopathy1 test
Myopathy with giant abnormal mitochondria1 test
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay1 test
Myotonia congenita1 test
NARP syndrome1 test
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID1 test
Naxos disease2 tests
Neonatal inflammatory skin and bowel disease1 test
Neonatal severe hyperparathyroidism1 test
Netherton syndrome1 test
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures1 test
Neuronal ceroid lipofuscinosis1 test
Neuronopathy, distal hereditary motor, type 5C1 test
Neuronopathy, distal hereditary motor, type viia1 test
Neuropathy, hereditary sensory and autonomic, type 1A1 test
Neuropathy, hereditary sensory and autonomic, type VI1 test
Neuropathy, hereditary sensory and autonomic, type VII1 test
Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive1 test
Neutropenia, nonimmune chronic idiopathic, of adults1 test
Neutropenia, severe congenital 1, autosomal dominant1 test
Neutropenia, severe congenital, 7, autosomal recessive1 test
Neutrophil immunodeficiency syndrome2 tests
Nevirapine response1 test
Nicotine dependence1 test
Niemann-Pick disease, type A2 tests
Niemann-Pick disease, type B1 test
Niemann-Pick disease, type C1 test
Nilotinib response2 tests
Nodular fasciitis1 test
Nonsteroidal anti-inflammatory drugs response1 test
Noonan syndrome2 tests
Noonan syndrome 12 tests
Noonan syndrome 32 tests
Noonan syndrome 42 tests
Noonan syndrome 53 tests
Noonan syndrome 62 tests
Noonan syndrome 72 tests
Noonan syndrome with multiple lentigines1 test
Noonan syndrome-like disorder with loose anagen hair 12 tests
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia2 tests
Ondansetron response1 test
Ophthalmoplegic neuromuscular disorder with abnormal mitochondria1 test
Osteomyelitis, sterile multifocal, with periostitis and pustulosis1 test
Otopalatodigital spectrum disorder1 test
Ovalocytosis, southeast Asian1 test
PTEN hamartoma tumor syndrome1 test
Papillon-Lefèvre syndrome1 test
Paragangliomas 11 test
Paragangliomas 31 test
Paragangliomas 41 test
Parkes Weber syndrome1 test
Paroxetine response2 tests
Pazopanib response3 tests
Peginterferon alfa-2a response1 test
Peginterferon alfa-2b response1 test
Pegloticase response1 test
Periodontitis, aggressive, 11 test
Peripheral neuropathy1 test
Periventricular nodular heterotopia 12 tests
Peroxisome biogenesis disorders1 test
Peroxisome biogenesis disorders, Zellweger syndrome spectrum1 test
Peutz-Jeghers syndrome1 test
Phenylketonuria1 test
Phenytoin response2 tests
Phenytoin toxicity2 tests
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial1 test
Phosphoglycerate kinase 1 deficiency1 test
Pigmented nodular adrenocortical disease, primary, 11 test
Pityriasis rubra pilaris1 test
Platelet-type bleeding disorder 181 test
Poikiloderma with neutropenia2 tests
Polyglucosan body myopathy1 test
Polyglucosan body myopathy 1 with or without immunodeficiency1 test
Poor thiopurine metabolism1 test
Porokeratosis 3, disseminated superficial actinic type2 tests
Porphyria1 test
Prader-Willi syndrome1 test
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 151 test
Pre-B-cell acute lymphoblastic leukemia1 test
Premature ovarian failure1 test
Premature ovarian failure 11 test
Primary dilated cardiomyopathy2 tests
Primary familial dilated cardiomyopathy2 tests
Primary familial hypertrophic cardiomyopathy1 test
Primary hyperoxaluria, type I1 test
Primary hyperoxaluria, type II1 test
Primary immunodeficiency4 tests
Progressive familial intrahepatic cholestasis1 test
Progressive familial intrahepatic cholestasis 31 test
Progressive familial intrahepatic cholestasis 41 test
Progressive myoclonic epilepsy1 test
Propionic acidemia1 test
Proteasome-associated autoinflammatory syndrome 11 test
Prothrombin deficiency, congenital1 test
Proton pump inhibitor response1 test
Pseudo-Hurler polydystrophy1 test
Psoriasis1 test
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 11 test
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 21 test
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 31 test
Pulmonary surfactant metabolism dysfunction1 test
Pure gonadal dysgenesis 46,XY1 test
Pure mitochondrial myopathy1 test
Purine-nucleoside phosphorylase deficiency1 test
Pustular psoriasis, generalized1 test
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1 test
Pyruvate kinase deficiency of red cells3 tests
RAS-associated autoimmune leukoproliferative disorder1 test
Radial aplasia-thrombocytopenia syndrome1 test
Rasburicase response1 test
Rasopathy1 test
Reticular dysgenesis1 test
Rett syndrome1 test
Rett syndrome, congenital variant1 test
Revesz syndrome1 test
Rh-null, regulator type1 test
Rhabdomyolysis1 test
Rhizomelic chondrodysplasia punctata1 test
Ribavirin response1 test
Riddle syndrome1 test
Roifman-Chitayat syndrome1 test
Rosuvastatin response1 test
Russell-Silver syndrome2 tests
SHORT syndrome2 tests
Sandhoff disease1 test
Seizures, benign familial infantile, 31 test
Selective serotonin reuptake inhibitor response2 tests
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome1 test
Sertraline response2 tests
Severe combined immunodeficiency disease1 test
Severe combined immunodeficiency due to ADA deficiency2 tests
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation1 test
Severe combined immunodeficiency, B cell-negative1 test
Severe combined immunodeficiency, athabascan-type2 tests
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive1 test
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative1 test
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive1 test
Severe congenital neutropenia2 tests
Severe congenital neutropenia 2, autosomal dominant1 test
Severe congenital neutropenia 4, autosomal recessive2 tests
Severe congenital neutropenia 5, autosomal recessive1 test
Sex-linked hereditary disorder3 tests
Shprintzen syndrome1 test
Shprintzen-Goldberg syndrome2 tests
Shwachman syndrome1 test
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 71 test
Simvastatin response1 test
Sitosterolemia1 test
Smith-Lemli-Opitz syndrome1 test
Spastic paraplegia1 test
Specific granule deficiency1 test
Specific granule deficiency 11 test
Spherocytosis type 12 tests
Spherocytosis type 22 tests
Spherocytosis type 32 tests
Spherocytosis type 42 tests
Spherocytosis type 52 tests
Spinal muscular atrophy3 tests
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21 test
Spondylocheirodysplasia, Ehlers-Danlos syndrome-like1 test
Spongy degeneration of central nervous system1 test
Spontaneous abortion1 test
Statin causing adverse effect in therapeutic use1 test
Statin-induced myopathy1 test
Stormorken syndrome1 test
Surfactant metabolism dysfunction, pulmonary, 41 test
Susceptibility to localized juvenile periodontitis1 test
Syndromic hereditary neuropathy1 test
Syndromic intellectual disability1 test
Systemic lupus erythematosus 91 test
Systemic lupus erythematosus, susceptibility to1 test
T-cell immunodeficiency, congenital alopecia, and nail dystrophy1 test
T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations1 test
T-cell receptor alpha/beta deficiency1 test
TNF receptor-associated periodic fever syndrome (TRAPS)1 test
Tacrolimus response1 test
Tafenoquine response1 test
Tamoxifen response1 test
Tay-Sachs disease2 tests
Telangiectasia, hereditary hemorrhagic, type 21 test
Telangiectasia, hereditary hemorrhagic, type 51 test
Telomere syndrome1 test
Tetraploidy syndrome1 test
Thioguanine response1 test
Thiopurine methyltransferase deficiency1 test
Thiopurine response1 test
Thiopurines, poor metabolism of, 21 test
Thrombocytopenia, X-linked, intermittent2 tests
Thrombophilia due to thrombomodulin defect1 test
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant1 test
Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive1 test
Thrombotic microangiopathy1 test
Timothy syndrome1 test
Tolbutamide response1 test
Trichohepatoenteric syndrome1 test
Tricyclic antidepressants response2 tests
Triosephosphate isomerase deficiency2 tests
Triploidy1 test
Trisomy1 test
Trisomy X syndrome1 test
Tropisetron response1 test
Tuberous sclerosis 11 test
Tuberous sclerosis 21 test
Tuberous sclerosis syndrome1 test
Turcot syndrome1 test
Turner syndrome4 tests
Twinning, monozygotic1 test
Tyrosinemia1 test
Uniparental disomy of maternal origin1 test
Uniparental disomy of paternal origin1 test
Upshaw-Schulman syndrome1 test
Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to2 tests
Variegate porphyria2 tests
Venous thromboembolism, susceptibility to1 test
Very long chain acyl-CoA dehydrogenase deficiency1 test
Von Hippel-Lindau syndrome1 test
Voriconazole response1 test
Warfarin response2 tests
Warts, hypogammaglobulinemia, infections, and myelokathexis2 tests
Weill-Marchesani syndrome1 test
Weill-Marchesani syndrome 22 tests
Wilson disease1 test
Wiskott-Aldrich syndrome3 tests
Wiskott-Aldrich syndrome 22 tests
X-Linked Lymphoproliferative Syndrome3 tests
X-linked agammaglobulinemia3 tests
X-linked agammaglobulinemia with growth hormone deficiency1 test
X-linked severe combined immunodeficiency2 tests
X-linked severe congenital neutropenia2 tests
Xerocytosis1 test
Zellweger syndrome1 test
delta Thalassemia3 tests
gene sequencing1 test
methadone response - Dosage1 test
von Willebrand disorder1 test
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