U.S. flag

An official website of the United States government

Mayo Clinic Laboratories (Mayo Clinic)

General information

Mayo Clinic Laboratories
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: 8674

Gene

GeneSubmissionsLast Updated
AAAS1May 26, 2021
AARS12May 26, 2021
AARS29May 23, 2018
AASS7May 23, 2018
ABAT16Jul 7, 2022
ABCA114Jul 7, 2022
ABCB116Jul 7, 2022
ABCB46Jul 7, 2022
ABCB79Oct 15, 2018
ABCC29Jul 7, 2022
ABCC81Feb 28, 2018
ABCC94Jul 7, 2022
ABCD118Jul 7, 2022
ABCD22May 23, 2018
ABCD33May 23, 2018
ABCG512Jul 7, 2022
ABCG817Jul 7, 2022
ABHD14A-ACY15May 26, 2021
ACACA12May 23, 2018
ACAD911Jul 7, 2022
ACADM6Jun 9, 2022
ACADS2Jul 7, 2022
ACADVL9Jun 9, 2022
ACO26Jul 18, 2018
ACOX110May 23, 2018
ACOX21Jul 18, 2018
ACOX312May 26, 2021
ACP25May 23, 2018
ACSF33Jun 9, 2022
ACTA21May 26, 2021
ACTA2-AS11May 26, 2021
ACTC11May 26, 2021
ACTN29Jul 7, 2022
ACVRL121Jul 7, 2022
ACY15May 26, 2021
ACYP12Jul 7, 2022
ADA3Jul 7, 2022
ADA23May 26, 2021
ADAM171Jul 7, 2022
ADAMTS1322Jul 7, 2022
ADAMTS214Jul 7, 2022
ADAR1Feb 28, 2018
ADCY65Jul 7, 2022
ADGRG14Jul 7, 2022
ADGRG66Jul 7, 2022
ADSL5Jul 7, 2022
AFG3L212Jul 7, 2022
AGA10May 26, 2021
AGA-DT3May 23, 2018
AGK2May 23, 2018
AGL47Jul 7, 2022
AGO11Feb 28, 2018
AGPAT22Jul 7, 2022
AGPS4May 23, 2018
AGRN2May 26, 2021
AGXT3May 26, 2021
AHDC11Feb 28, 2018
AHNAK1Feb 28, 2018
AHNAK22Jul 18, 2018
AIFM18Jul 7, 2022
AK11Jul 7, 2022
AKAP911Jul 7, 2022
AKR1D11Jul 7, 2022
ALDH3A211May 23, 2018
ALDH5A11Jul 7, 2022
ALDH7A11May 26, 2021
ALDOA10Jul 7, 2022
ALDOB2Jun 9, 2022
ALG121Feb 28, 2018
ALG132May 26, 2021
ALG82Feb 28, 2018
ALS21Jul 7, 2022
AMACR19Jul 7, 2022
AMPD19May 23, 2018
AMT1May 26, 2021
ANG1Jul 7, 2022
ANK153Jul 7, 2022
ANK211Jul 7, 2022
ANK31Feb 28, 2018
ANKRD13Jul 7, 2022
ANKRD112Feb 28, 2018
ANO510Jul 7, 2022
AOPEP3Jul 7, 2022
AP3B14Jul 7, 2022
AP4B14Jul 7, 2022
AP4B1-AS13Jul 7, 2022
AP4E15May 26, 2021
AP4M16May 23, 2022
AP4S15Jul 7, 2022
AP5Z119Jul 7, 2022
APC222Jul 7, 2022
APOA13May 26, 2021
APOA1-AS3May 26, 2021
APOB18Jul 7, 2022
APTX10May 28, 2021
ARFGEF29Jul 7, 2022
ARHGAP351Feb 28, 2018
ARHGEF1018Jul 7, 2022
ARHGEF91Jul 7, 2022
ARSA22Jul 7, 2022
ARSB15May 23, 2018
ARSH15May 23, 2018
ARSL1Feb 28, 2018
ASAH117May 26, 2021
ASIC4-AS16Jul 7, 2022
ASL2Jul 7, 2022
ASPM2Feb 28, 2018
ASS11Jun 9, 2022
ASTN25May 26, 2021
ASXL31Feb 28, 2018
ATL14Jul 7, 2022
ATM31Jul 7, 2022
ATP13A232Jul 7, 2022
ATP1A23Jul 7, 2022
ATP2C21Feb 28, 2018
ATP5F1A7May 23, 2018
ATP5MC31May 23, 2018
ATP7A10May 26, 2021
ATP7B104Jul 7, 2022
ATP8A21Feb 28, 2018
ATP8B12Jul 7, 2022
ATPAF23May 23, 2018
ATRX2Jul 7, 2022
AUH10Jun 9, 2022
AUTS21Feb 28, 2018
AXIN229Jul 7, 2022
B3GAT31Feb 28, 2018
B3GLCT1Feb 28, 2018
B4GALNT18Jul 7, 2022
B4GAT12Jul 7, 2022
BAG36Jul 7, 2022
BBS11Feb 28, 2018
BCKDHA1Jul 7, 2022
BCKDHB3Jul 7, 2022
BCS1L6May 23, 2018
BICD22May 23, 2022
BIN11Feb 28, 2018
BLM2Jul 18, 2018
BLNK2May 26, 2021
BMPR1A12Mar 9, 2018
BMPR21Feb 28, 2018
BOLA33May 26, 2021
BRAF4May 26, 2021
BRCA176Jul 7, 2022
BRCA2133Jul 7, 2022
BSCL25Jul 7, 2022
BTK2May 26, 2021
BVES2May 23, 2022
C11orf6513Jul 7, 2022
C12orf571Feb 28, 2018
C1QTNF3-AMACR19Jul 7, 2022
C322Jul 7, 2022
C51Feb 28, 2018
CA5A8May 23, 2018
CACNA1A12May 26, 2021
CACNA1C6Jul 7, 2022
CACNA1H2Feb 28, 2018
CACNA1S8Jul 7, 2022
CACNA2D11May 26, 2021
CACNA2D21May 26, 2021
CACNB22May 26, 2021
CACNB42Jul 18, 2018
CADPS1Feb 28, 2018
CAPN38Jul 7, 2022
CARD112May 26, 2021
CARD1412Jul 7, 2022
CASQ11Feb 28, 2018
CAT4May 23, 2018
CATIP-AS24May 23, 2018
CAV35Jul 7, 2022
CAVIN13Jul 7, 2022
CBL2Mar 9, 2022
CBS8Jul 7, 2022
CC2D2A1Jul 7, 2022
CCDC1032May 23, 2018
CCDC401May 23, 2018
CCNH1Jul 7, 2022
CCNO1Feb 28, 2018
CCT52Jul 7, 2022
CD271May 26, 2021
CD27-AS11May 26, 2021
CD40LG1May 26, 2021
CD4615Mar 9, 2022
CD593May 26, 2021
CD79A1Jul 7, 2022
CD79B1May 26, 2021
CDAN121Jul 7, 2022
CDH131Jun 1, 2022
CDH232May 23, 2018
CDHR11Feb 28, 2018
CDIN12May 26, 2021
CDK5RAP23Feb 28, 2018
CDKL51Jul 7, 2022
CENPT1Jul 7, 2022
CEP2901Feb 28, 2018
CEP631May 26, 2021
CEP85L1May 26, 2021
CERS12May 26, 2021
CFB5Jul 7, 2022
CFD8Jul 7, 2022
CFH41Jul 7, 2022
CFHR17Jul 7, 2022
CFHR34Jul 7, 2022
CFHR512Jul 7, 2022
CFI18Jul 7, 2022
CFTR173Jul 7, 2022
CFTR-AS114Jul 7, 2022
CHAT15Jul 7, 2022
CHD21Feb 28, 2018
CHD31Feb 28, 2018
CHD72May 26, 2021
CHEK27May 26, 2021
CHIT116May 23, 2018
CHKB1Feb 28, 2018
CHKB-CPT1B1Feb 28, 2018
CHPT13Jul 7, 2022
CHRNA23May 26, 2021
CHRNA46Jul 7, 2022
CHRNG1Feb 28, 2018
CHST144Jul 7, 2022
CHST61Feb 28, 2018
CHST82Jul 7, 2022
CIDEC1Jul 7, 2022
CLCF15Jul 7, 2022
CLCN18May 26, 2021
CLN311Jul 7, 2022
CLN517Jul 7, 2022
CLN611May 26, 2021
CLN84Jul 7, 2022
CLPP5May 23, 2018
CNTN11May 26, 2021
CNTN21Feb 28, 2018
CNTNAP18Jul 7, 2022
CNTNAP28Jul 7, 2022
COA52May 23, 2018
COA62May 23, 2018
COA86May 23, 2018
COG41May 26, 2021
COG51May 26, 2021
COG76Jul 7, 2022
COG81May 26, 2021
COL11A21Feb 28, 2018
COL12A18Jul 7, 2022
COL1A113Jul 7, 2022
COL1A213Jul 7, 2022
COL27A11Feb 28, 2018
COL2A11Feb 28, 2018
COL3A115Jul 7, 2022
COL4A16Jul 7, 2022
COL5A135Jul 7, 2022
COL5A214Jul 7, 2022
COL6A18Jul 7, 2022
COL6A28May 26, 2021
COL6A39Jul 7, 2022
COL9A21Feb 28, 2018
COLQ2Feb 28, 2018
COQ27Aug 28, 2018
COQ46Jul 7, 2022
COQ69Jul 7, 2022
COQ8A13Jul 7, 2022
COQ8B12May 23, 2018
COQ94May 26, 2021
COX1017Jul 7, 2022
COX141May 23, 2018
COX151May 23, 2018
COX203May 23, 2018
COX4I21May 23, 2018
COX6B11May 23, 2018
COX7B2May 23, 2018
CPA61Jul 7, 2022
CPOX3Jul 7, 2022
CPT210Jul 7, 2022
CR21May 26, 2021
CRLF14Jul 7, 2022
CSF2RA1Jul 7, 2022
CSF3R6Jul 7, 2022
CSNK2B2Jul 18, 2018
CSRP32Jul 7, 2022
CTC15Jul 7, 2022
CTCF1Jul 18, 2018
CTDP113Jul 7, 2022
CTLA41May 26, 2021
CTNNB11Jul 18, 2018
CTNS12Jul 7, 2022
CTNS-AS16Jul 7, 2022
CTRC14Jul 7, 2022
CTSA17Jul 7, 2022
CTSD13Jul 7, 2022
CTSF14Jun 9, 2022
CTSK1May 23, 2018
CUBN1Jul 7, 2022
CXCR45Jul 7, 2022
CYBB1May 26, 2021
CYC15May 23, 2018
CYP27A12Jul 7, 2022
CYP2U15Jul 7, 2022
CYP2U1-AS12Jul 7, 2022
CYP7A11Jul 7, 2022
CYP7B15Jul 7, 2022
D2HGDH13May 26, 2021
DARS226Jul 7, 2022
DBNL7Jul 7, 2022
DCLRE1C4Jul 7, 2022
DCTN13Jul 7, 2022
DCX2May 26, 2021
DDHD19Jul 7, 2022
DDHD26Jul 7, 2022
DDX3X1Feb 28, 2018
DEPDC56May 26, 2021
DES3Jul 7, 2022
DGAT11Feb 28, 2018
DGKE3Jul 7, 2022
DGUOK12Jul 7, 2022
DGUOK-AS11Jul 7, 2022
DHCR71Jul 7, 2022
DHDDS1May 26, 2021
DHH3May 26, 2021
DHTKD113Jul 7, 2022
DKC12May 26, 2021
DLAT12May 23, 2018
DLD10May 23, 2018
DMAC2L3May 23, 2018
DMD16Jul 7, 2022
DNA211May 23, 2018
DNAAF11Feb 28, 2018
DNAAF61Jul 18, 2018
DNAH111Feb 28, 2018
DNAH54Feb 28, 2018
DNAI21Jul 16, 2018
DNAJB21May 26, 2021
DNAJB61Jul 7, 2022
DNAJC192May 23, 2018
DNAJC55May 23, 2018
DNAJC9-AS12May 23, 2018
DNASE15May 23, 2018
DNM1L9May 23, 2018
DNM27Jul 7, 2022
DNMT16Jul 7, 2022
DOCK31Feb 28, 2018
DOCK73May 26, 2021
DOCK85Jul 7, 2022
DOK74May 26, 2021
DPAGT12May 26, 2021
DRC11Feb 28, 2018
DSC23May 26, 2021
DSG28Jul 7, 2022
DSG2-AS13Jul 7, 2022
DSP18Jul 7, 2022
DST46Jul 7, 2022
DTNA3Jul 7, 2022
DUOX21Feb 28, 2018
DUOXA21Feb 28, 2018
DYNC1H16May 26, 2021
DYNC2LI19Jul 7, 2022
DYRK1A1Jul 7, 2022
DYSF29Jul 7, 2022
EARS210May 23, 2018
EBF31Feb 28, 2018
ECH17May 23, 2018
EDNRB1Feb 28, 2018
EDNRB-AS11Feb 28, 2018
EEF1A23Jul 7, 2022
EGILA1Jul 7, 2022
EGR27Jul 7, 2022
EHHADH1Jul 7, 2022
ELAC211May 23, 2018
ELANE6Jul 7, 2022
ELN1Feb 28, 2018
ELP110Jul 7, 2022
ENG34Jul 7, 2022
ENO312May 26, 2021
ENPP12Feb 28, 2018
ENTPD11Feb 28, 2018
ENTPD1-AS11Feb 28, 2018
ENTPD58Jul 7, 2022
EPB419Jul 7, 2022
EPB4222Jul 7, 2022
EPHB11May 26, 2021
EPM2A14Jul 7, 2022
EPM2A-DT7Jul 7, 2022
ERBB36Jul 7, 2022
ERCC616Jul 7, 2022
ERCC6-PGBD33Jul 7, 2022
ERCC88Jul 7, 2022
ERLIN22May 26, 2021
ETFA2May 23, 2018
ETFB2May 23, 2018
ETFDH12Jul 7, 2022
ETHE15May 23, 2018
EVC1Feb 28, 2018
EXT22Feb 28, 2018
F101May 26, 2021
F115Jul 7, 2022
F11-AS11Jul 7, 2022
F13B1May 26, 2021
F76Jul 7, 2022
F88May 26, 2021
F92May 26, 2021
FA2H6Jul 7, 2022
FAH4Jul 7, 2022
FANCA26Jul 7, 2022
FANCC5Jul 7, 2022
FANCG1May 26, 2021
FANCI5Jul 7, 2022
FARS27May 26, 2021
FASTKD25May 23, 2018
FBLN54May 26, 2021
FBN145Jul 7, 2022
FBN210Jul 7, 2022
FBXL38Jul 7, 2022
FBXL410May 23, 2018
FBXO111Oct 31, 2017
FBXO382Jul 7, 2022
FBXO412Feb 28, 2018
FBXW71Feb 28, 2018
FECH4Jul 7, 2022
FERMT31Jul 7, 2022
FGA3May 26, 2021
FGB2May 26, 2021
FGD12Jul 7, 2022
FGD45Jul 7, 2022
FGFR33Jul 7, 2022
FGG4May 26, 2021
FH5May 26, 2021
FIG411Jul 7, 2022
FKBP142Jul 7, 2022
FKBP14-AS11May 26, 2021
FKRP8Jul 7, 2022
FKTN7Jul 7, 2022
FLCN2Jun 1, 2022
FLG2Feb 28, 2018
FLNA18Jul 7, 2022
FLNC8Jul 7, 2022
FLNC-AS12Jul 7, 2022
FLVCR13Jul 7, 2022
FOXC21Feb 28, 2018
FOXG11Jul 7, 2022
FOXP31May 26, 2021
FOXRED14May 23, 2018
FRAS12Feb 28, 2018
FUCA18May 23, 2018
FUS1May 23, 2022
FXN3May 23, 2018
G6PC14May 28, 2021
G6PC34May 26, 2021
G6PD9Jul 7, 2022
GAA64Jul 7, 2022
GABRB31Feb 28, 2018
GABRD1May 26, 2021
GABRG21May 26, 2021
GALC39Jul 7, 2022
GALE1May 26, 2021
GALNS31Jul 7, 2022
GALT21Jul 7, 2022
GAMT5May 26, 2021
GAN2May 26, 2021
GAREM29Jul 7, 2022
GARS116May 26, 2021
GATA12Jul 7, 2022
GATA26Mar 9, 2022
GATAD14Jul 7, 2022
GATM1May 26, 2021
GBA119Jun 9, 2022
GBA26Jul 7, 2022
GBE131Jul 7, 2022
GCDH3May 23, 2018
GCLC5Jul 7, 2022
GDAP19Jul 7, 2022
GDF12May 26, 2021
GEMIN52Jul 18, 2018
GFAP16May 26, 2021
GFER6May 23, 2018
GFI12Jul 7, 2022
GFM19May 26, 2021
GFPT12May 26, 2021
GH-LCR8Jul 7, 2022
GHR2Feb 28, 2018
GJB12Jul 7, 2022
GJC25Jul 7, 2022
GJD2-DT1May 26, 2021
GLA12May 26, 2021
GLB117Jul 7, 2022
GLUL1Jul 7, 2022
GM2A7May 23, 2018
GMPPA1May 23, 2022
GMPPB3May 23, 2022
GNB42Jul 7, 2022
GNE3Jul 7, 2022
GNPAT5May 23, 2018
GNPTAB26Jul 7, 2022
GNPTG7May 26, 2021
GNS7Jul 7, 2022
GPC33Jul 7, 2022
GPD1L2May 26, 2021
GPI7Jul 7, 2022
GPR151Feb 28, 2018
GRIA31May 26, 2021
GRIN16May 27, 2021
GRIN2A4Jul 7, 2022
GRIN2B2May 26, 2021
GRN12May 26, 2021
GSN2May 26, 2021
GSR12Jul 7, 2022
GSS12Jul 7, 2022
GUSB13May 23, 2018
GYG18May 26, 2021
GYPC5Jul 7, 2022
GYS14May 26, 2021
GYS213May 23, 2018
HADHA15Jul 7, 2022
HADHB8Jul 7, 2022
HARS15May 26, 2021
HARS22May 23, 2018
HAX17Jul 7, 2022
HBA-LCR1May 26, 2021
HBB12May 26, 2021
HBD3May 26, 2021
HCFC12Jul 7, 2022
HDAC61Feb 28, 2018
HDAC91Feb 28, 2018
HERC12Feb 28, 2018
HERC22Jul 18, 2018
HEXA9May 26, 2021
HEXB6Jul 7, 2022
HFE2Jun 9, 2022
HFE-AS11May 26, 2021
HGD1Jun 9, 2022
HGSNAT8May 23, 2018
HIBCH2May 23, 2018
HIC21Jul 18, 2018
HK18Jul 7, 2022
HLCS1Feb 28, 2018
HMBS6Jul 7, 2022
HMOX16Jul 7, 2022
HNF1B2Jul 7, 2022
HNRNPCL11Feb 28, 2018
HNRNPDL2Jul 7, 2022
HNRNPU1May 23, 2018
HNRNPU-AS12May 23, 2018
HNRNPUL2-BSCL25Jul 7, 2022
HOGA12May 26, 2021
HOXB131Jun 1, 2022
HPSE21Feb 28, 2018
HRAS1May 26, 2021
HSD17B419Jul 7, 2022
HSPB15Jul 7, 2022
HSPB31May 26, 2021
HSPD11Jul 7, 2022
HSPG22Jul 18, 2018
HUWE11Feb 28, 2018
HYAL14Jul 7, 2022
HYCC19Jul 7, 2022
HYDIN1Feb 28, 2018
IAH11Jul 7, 2022
IARS26May 23, 2018
IBA578May 26, 2021
ICOS1May 26, 2021
IDH24May 23, 2018
IDH2-DT1May 23, 2018
IDS10May 23, 2018
IDUA31Jul 7, 2022
IER3IP11Jul 7, 2022
IFIH11Feb 28, 2018
IGF1R1Feb 28, 2018
IGHMBP220Jul 7, 2022
IGLL12May 26, 2021
IKBKB2Feb 28, 2018
IKBKG3May 26, 2021
IL10RB2Jul 7, 2022
IL1RN1Jul 7, 2022
IL21R1Jul 7, 2022
IL21R-AS11Jul 7, 2022
IL36RN1May 26, 2021
IL7R1May 26, 2021
INF26Jul 7, 2022
INSL61Jul 16, 2018
INVS2Jul 7, 2022
ISCU7May 23, 2018
ISG152Jul 7, 2022
ITGA74Jul 7, 2022
ITGB25Jul 7, 2022
IVD1Jul 7, 2022
JAG12Jun 9, 2022
JAK21Jul 16, 2018
JUP3Jul 7, 2022
KANSL12May 26, 2021
KARS18May 26, 2021
KCNB11May 26, 2021
KCNC11May 26, 2021
KCNE14Mar 9, 2022
KCNE32May 26, 2021
KCNH214Jul 7, 2022
KCNH51May 26, 2021
KCNJ105Jul 7, 2022
KCNJ23May 26, 2021
KCNK31Feb 28, 2018
KCNQ116Jul 7, 2022
KCNQ26May 23, 2022
KCNQ35Jul 7, 2022
KCNT13May 23, 2022
KCTD78May 26, 2021
KDM5C1May 26, 2021
KIAA05862Feb 28, 2018
KIF111Feb 28, 2018
KIF1A11Jul 7, 2022
KIF1B11Jul 7, 2022
KIF221Feb 28, 2018
KIF2311Jul 7, 2022
KIF23-AS11Jul 7, 2022
KIF5A4May 26, 2021
KIT2Jul 7, 2022
KLF14Jul 7, 2022
KLHL404Jul 7, 2022
KLHL412May 26, 2021
KLLN3Oct 31, 2017
KMT2B1Jul 18, 2018
KMT2D1Feb 28, 2018
KPTN1Feb 28, 2018
KRAS1May 26, 2021
KY1May 26, 2021
L1CAM2Jul 7, 2022
L2HGDH7May 23, 2018
LAMA268Jul 7, 2022
LAMA47Jul 7, 2022
LAMC31Feb 28, 2018
LAMP28Jul 7, 2022
LARGE14May 26, 2021
LARS214May 23, 2018
LARS2-AS15May 23, 2018
LDB35May 26, 2021
LDHA14May 23, 2018
LDLR48Jul 7, 2022
LDLR-AS12May 26, 2021
LDLRAP12Jul 7, 2022
LGI11Feb 28, 2018
LIAS2May 23, 2018
LIG42May 26, 2021
LIPA8Jul 7, 2022
LIPT21May 26, 2021
LITAF1May 26, 2021
LMNA18Jul 7, 2022
LOC1001305872May 26, 2021
LOC1001309875Jul 7, 2022
LOC10028958031Jul 7, 2022
LOC10144820210Jul 7, 2022
LOC1019270554Jul 7, 2022
LOC1019280085Jul 7, 2022
LOC1027235669Jul 7, 2022
LOC1027240587May 23, 2022
LOC1060501027May 23, 2018
LOC1060990629May 26, 2021
LOC1060990631May 26, 2021
LOC10662798117Jun 9, 2022
LOC1066943162Jul 7, 2022
LOC10713351012May 26, 2021
LOC1073033431May 26, 2021
LOC1079880322May 26, 2021
LOC1099510291May 26, 2021
LOC1100063193May 26, 2021
LOC1101212692Jul 7, 2022
LOC1101212883May 26, 2021
LOC1101214861May 26, 2021
LOC1105968661Jul 7, 2022
LOC1108062633Jul 7, 2022
LOC1108063061May 26, 2021
LOC11167447216Jul 7, 2022
LOC11167447513Jul 7, 2022
LOC1116744775Jul 7, 2022
LOC1124862232May 26, 2021
LOC1125298951May 23, 2018
LOC1125434701May 26, 2021
LOC11269475610Jul 7, 2022
LOC1129975404May 23, 2018
LOC1136338771May 26, 2021
LOC1136641061Jul 7, 2022
LOC1137882972May 23, 2018
LOC1139399443May 26, 2021
LOC1171255911Jul 7, 2022
LOC1171255921May 26, 2021
LOC1194074051Jul 7, 2022
LOC1238640652Jul 7, 2022
LOC1241531541May 26, 2021
LONP11Feb 28, 2018
LOXHD11Feb 28, 2018
LPIN11May 26, 2021
LPIN26Jul 7, 2022
LRBA12Jul 7, 2022
LRPPRC11May 23, 2018
LRRC561May 26, 2021
LRRC8A2May 26, 2021
LRSAM111Jul 7, 2022
LYRM42May 23, 2018
LYRM71May 23, 2018
LYST17Jul 7, 2022
LYZ1May 26, 2021
MAF1May 26, 2021
MALT11Feb 28, 2018
MAN1B11Feb 28, 2018
MAN2B127Jul 7, 2022
MANBA17May 23, 2018
MAP2K12May 26, 2021
MAP2K22Jul 7, 2022
MARK21Feb 28, 2018
MARS12May 26, 2021
MARS22May 23, 2018
MASP12Feb 28, 2018
MASP21Feb 28, 2018
MATR32Jul 7, 2022
MBD58Jul 7, 2022
MCM71May 26, 2021
MCOLN111Jul 7, 2022
MCPH11Feb 28, 2018
MECP27May 26, 2021
MED231Feb 28, 2018
MED256Jul 7, 2022
MEFV9Jul 7, 2022
MEGF105May 26, 2021
MFAP52May 26, 2021
MFN27May 26, 2021
MFSD86May 23, 2022
MGAT21May 26, 2021
MGME13May 23, 2018
MHRT5Jul 7, 2022
MICU11May 23, 2018
MIF4GD-DT3May 26, 2021
MILR15May 23, 2018
MKS11Jul 7, 2022
MLC11Feb 28, 2018
MLH1118Jul 7, 2022
MLH331Jul 7, 2022
MMACHC8Jul 7, 2022
MMUT1Jul 7, 2022
MOCS12May 26, 2021
MOCS21May 26, 2021
MPC13May 23, 2018
MPO2Jul 7, 2022
MPV175Jul 7, 2022
MPZ11Jul 7, 2022
MRPL33May 23, 2018
MRPL443May 23, 2018
MRPS162May 23, 2018
MRPS222May 23, 2018
MSC-AS11May 26, 2021
MSH2107May 28, 2021
MSH31Jul 7, 2022
MSH6152Jul 7, 2022
MTFMT12May 23, 2018
MTM11May 23, 2022
MTMR25May 26, 2021
MTO17May 23, 2018
MTPAP4May 23, 2018
MTRFR6May 26, 2021
MTTP3May 26, 2021
MUSK1Jul 7, 2022
MUTYH15Jul 7, 2022
MVK6Jul 7, 2022
MYBPC332Jul 7, 2022
MYH119Jul 7, 2022
MYH149Jul 7, 2022
MYH27Jul 7, 2022
MYH64Jul 7, 2022
MYH724Jul 7, 2022
MYHAS7Jul 7, 2022
MYL21Mar 9, 2022
MYL32May 26, 2021
MYLK8Jul 7, 2022
MYLK-AS11May 26, 2021
MYLK21May 26, 2021
MYO18B13Jul 7, 2022
MYO18B-AS13May 26, 2021
MYO7A2Feb 28, 2018
MYOT3May 26, 2021
MYOZ23Jul 7, 2022
MYPN9Jul 7, 2022
NAGA15Jul 7, 2022
NAGLU11Jul 7, 2022
NBN2Jul 7, 2022
NCAPH29May 26, 2021
NCF22May 26, 2021
NCF42Jul 7, 2022
NCF4-AS11May 26, 2021
NDE14Jul 7, 2022
NDRG18Jul 7, 2022
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
NEB38Jul 7, 2022
NECAP11May 26, 2021
NEFL2May 26, 2021
NEU16May 27, 2021
NEXN5Jul 7, 2022
NF14Jul 7, 2022
NF22May 26, 2021
NFU14May 23, 2018
NGF2May 26, 2021
NGF-AS12May 26, 2021
NGLY11May 26, 2021
NHEJ11Jul 7, 2022
NHLRC16May 26, 2021
NHP22May 26, 2021
NIPA12May 23, 2022
NIPSNAP3B1Jul 7, 2022
NKX2-51Feb 28, 2018
NLRC43May 26, 2021
NLRP128Jul 7, 2022
NLRP34Jul 7, 2022
NOD211Jul 7, 2022
NOTCH111Jul 7, 2022
NOTCH23Jul 7, 2022
NOTCH37May 26, 2021
NPC139Jul 7, 2022
NPC23Jul 7, 2022
NPHP12Jul 7, 2022
NPHP32Jul 7, 2022
NPHP3-ACAD112Jul 7, 2022
NPHP46Jul 7, 2022
NPRL32May 27, 2021
NR1H31May 23, 2018
NR1H43Jul 7, 2022
NR2F12Feb 28, 2018
NR2F21Feb 28, 2018
NRL16May 23, 2018
NRXN18Jul 7, 2022
NSD21Feb 28, 2018
NSUN62May 26, 2021
NT5C3A3May 26, 2021
NTRK111Jul 7, 2022
NUBPL6Jul 18, 2018
OAT1Jul 7, 2022
OCLN3Jul 7, 2022
OGDH10May 23, 2018
OPA121Jul 7, 2022
OPA1-AS11May 23, 2018
OPA31May 23, 2018
OPTN1May 26, 2021
OR10Z12Jul 7, 2022
ORC11Feb 28, 2018
OXCT15May 23, 2018
OXCT1-AS11May 23, 2018
OXTR2Jul 7, 2022
P3H21Feb 28, 2018
PAFAH1B11May 26, 2021
PAH6Jun 9, 2022
PAK31Jul 7, 2022
PALB22Jul 7, 2022
PANK218May 23, 2022
PC7May 23, 2018
PCK216May 23, 2018
PCSK93May 26, 2021
PDHA12May 23, 2018
PDHB5May 23, 2018
PDHX17May 23, 2018
PDK31May 26, 2021
PDP11May 23, 2018
PDSS16Jul 7, 2022
PDSS26Jul 7, 2022
PDYN2Jul 7, 2022
PDYN-AS12Jul 7, 2022
PDZD96May 23, 2018
PEPD1Jul 7, 2022
PEX117Jul 7, 2022
PEX1012Jul 7, 2022
PEX11B1May 23, 2018
PEX123May 26, 2021
PEX133Jul 7, 2022
PEX148May 23, 2018
PEX165May 23, 2018
PEX192May 23, 2018
PEX23May 23, 2018
PEX267Jul 7, 2022
PEX35May 23, 2018
PEX59May 23, 2018
PEX618May 26, 2021
PEX77May 26, 2021
PFKM19Jul 7, 2022
PGAM27Jul 7, 2022
PGAP31Feb 28, 2018
PGBD31May 26, 2021
PGK16Jul 7, 2022
PGM116Jul 7, 2022
PHGDH4May 26, 2021
PHKA18Jun 9, 2022
PHKA1-AS11May 23, 2018
PHKA210Jul 7, 2022
PHKB18Jul 7, 2022
PHKG22Jul 7, 2022
PHLPP12Feb 28, 2018
PHYH13Jul 7, 2022
PIEZO192Jul 7, 2022
PIEZO23Feb 28, 2018
PIGA2Jul 7, 2022
PIGN1Jul 18, 2018
PIGO1Jul 7, 2022
PIGT2May 26, 2021
PIGV3Jul 7, 2022
PIH1D22May 23, 2018
PIK3CD4May 26, 2021
PIK3R13May 26, 2021
PITPNM31Feb 28, 2018
PKD2L2-DT3May 26, 2021
PKHD123Jul 7, 2022
PKLR29Jul 7, 2022
PKP22Jul 7, 2022
PLA2G611Jul 7, 2022
PLCB13Jul 7, 2022
PLCG216Jul 7, 2022
PLCH21May 23, 2018
PLEC25Jul 7, 2022
PLEKHG32May 26, 2021
PLEKHG518Jul 7, 2022
PLG21Jul 7, 2022
PLN1May 26, 2021
PLOD112Jul 7, 2022
PLP13Jul 7, 2022
PMM28May 23, 2022
PMP226Jul 7, 2022
PMS234Jun 1, 2022
PNKD4May 23, 2018
PNKP14Jul 7, 2022
PNPLA22Jul 7, 2022
PNPLA610Jul 7, 2022
PNPO2Jul 7, 2022
PNPT17May 23, 2018
POLG70Jul 7, 2022
POLG25May 23, 2018
POLR1C9May 23, 2018
POLR2F1May 26, 2021
POLR3H2Jul 18, 2018
POMGNT17Jul 7, 2022
POMGNT21Jul 7, 2022
POMK1May 26, 2021
POMT16Jul 7, 2022
POMT23Jul 7, 2022
PPT112Jul 7, 2022
PRICKLE15Jul 7, 2022
PRKAG211Jul 7, 2022
PRKG12May 26, 2021
PRNP1May 26, 2021
PROC4Jul 7, 2022
PRODH2Feb 28, 2018
PROS12May 26, 2021
PRRT23May 26, 2021
PRUNE22Feb 28, 2018
PRX24Jul 7, 2022
PSAP9Jul 7, 2022
PSMB82Jul 7, 2022
PSTPIP12Jul 7, 2022
PTCH11Feb 28, 2018
PTEN42Jul 7, 2022
PTPN1116Jul 7, 2022
PTX31Feb 28, 2018
PUS12May 23, 2018
PYGL22Jul 7, 2022
PYGM27Jul 7, 2022
QARS18May 26, 2021
RAB33A8Jul 7, 2022
RAB3GAP11May 26, 2021
RAB9B3Jul 7, 2022
RAD51C1Jul 7, 2022
RAF17Jul 7, 2022
RAG14Mar 9, 2022
RAG21May 26, 2021
RAPSN2May 26, 2021
RARS29May 23, 2018
RASA12Jul 7, 2022
RBCK13Jul 7, 2022
RBM207Jul 7, 2022
REEP12May 26, 2021
RELN12Jul 7, 2022
RET15Jul 7, 2022
RETREG12May 26, 2021
RFT11Feb 28, 2018
RHAG6Jul 7, 2022
RIF15Jul 7, 2022
RINT12Feb 28, 2018
RMND14May 26, 2021
RMRP2May 26, 2021
RNASE41Jul 7, 2022
ROGDI4Jul 7, 2022
ROR21Feb 28, 2018
RPL36A-HNRNPH212May 26, 2021
RPS193Jul 7, 2022
RPS6KA31Feb 28, 2018
RRM2B5Jul 7, 2022
RS11Jul 7, 2022
RTEL120Jul 7, 2022
RTEL1-TNFRSF6B20Jul 7, 2022
RTN23May 26, 2021
RYR129Jul 7, 2022
RYR219Jul 7, 2022
RYR33Feb 28, 2018
SACS63Jul 7, 2022
SARS212May 23, 2018
SBDS4May 26, 2021
SBF130Jul 7, 2022
SBF214Jul 7, 2022
SBF2-AS11May 26, 2021
SCARB25May 26, 2021
SCN10A15Jul 7, 2022
SCN11A10Jul 7, 2022
SCN1A14May 23, 2022
SCN1A-AS121Jul 7, 2022
SCN1B1May 26, 2021
SCN2A10Jul 7, 2022
SCN3A2Feb 28, 2018
SCN4A9Jul 7, 2022
SCN4B1May 26, 2021
SCN5A25Jul 7, 2022
SCN8A5Jul 7, 2022
SCN9A27Jul 7, 2022
SCO11May 23, 2018
SCO219May 26, 2021
SCP211Jul 7, 2022
SDHAF11May 23, 2018
SDHB1Jun 1, 2022
SEC23B14Jul 7, 2022
SELENON8Jul 7, 2022
SEMA3E1Jul 7, 2022
SEPTIN91May 26, 2021
SERAC14May 23, 2018
SERPINA14Jul 7, 2022
SERPINC11May 26, 2021
SETBP12May 26, 2021
SETX26Jul 7, 2022
SFXN44May 23, 2018
SGCA2May 26, 2021
SGCB2May 26, 2021
SGCD1Jul 7, 2022
SGCG1May 23, 2022
SGSH23Jul 7, 2022
SH3BP23May 26, 2021
SH3PXD2B2Feb 28, 2018
SH3TC222Jul 7, 2022
SHOC21May 26, 2021
SIK11May 26, 2021
SKI1May 26, 2021
SKIC24May 26, 2021
SKIC32May 26, 2021
SLC10A11Jul 7, 2022
SLC10A21Jul 7, 2022
SLC12A68Jul 7, 2022
SLC16A21May 26, 2021
SLC17A59Jul 7, 2022
SLC19A38May 23, 2018
SLC22A56May 23, 2022
SLC25A13May 23, 2018
SLC25A1211May 23, 2018
SLC25A131Jul 7, 2022
SLC25A152Jul 7, 2022
SLC25A198May 26, 2021
SLC25A201May 26, 2021
SLC25A222May 26, 2021
SLC25A32May 23, 2018
SLC25A42Jul 18, 2018
SLC25A464Jul 7, 2022
SLC26A17Jul 7, 2022
SLC26A21Feb 28, 2018
SLC26A5-AS13Jul 7, 2022
SLC27A54Jul 7, 2022
SLC2A110Jul 7, 2022
SLC2A26Jul 7, 2022
SLC33A12Jul 7, 2022
SLC34A31Jul 18, 2018
SLC35A11May 23, 2018
SLC35A22May 26, 2021
SLC35D11May 26, 2021
SLC39A134Jul 7, 2022
SLC45A21May 23, 2018
SLC4A136Jul 7, 2022
SLC52A11Jul 7, 2022
SLC52A27May 26, 2021
SLC5A76Jul 7, 2022
SLC6A131Feb 28, 2018
SLC6A31Feb 28, 2018
SLC6A81May 26, 2021
SLC9A31Feb 28, 2018
SLC9A3-AS11Feb 28, 2018
SMAD33May 26, 2021
SMAD420Mar 9, 2022
SMC1A1Feb 28, 2018
SMCHD11Jul 7, 2022
SMPD127Jul 7, 2022
SNAP297Jul 7, 2022
SNAPC51May 26, 2021
SNHG141May 26, 2021
SNTA12Jul 7, 2022
SOD15Jul 7, 2022
SON1Feb 28, 2018
SOS18Jul 7, 2022
SOX101May 26, 2021
SPART4May 26, 2021
SPAST14Jul 7, 2022
SPEG12Jul 7, 2022
SPG1134Jul 7, 2022
SPG211May 26, 2021
SPG713Jul 7, 2022
SPINK15May 26, 2021
SPR1May 26, 2021
SPTA192Jul 7, 2022
SPTAN12May 26, 2021
SPTB69Jul 7, 2022
SPTBN21Feb 28, 2018
SPTLC13May 26, 2021
SPTLC24May 26, 2021
SQSTM13Jul 7, 2022
SRCAP1Jul 18, 2018
SSUH23May 26, 2021
ST3GAL52May 26, 2021
ST6GALNAC4-ST6GALNAC6-AK11Jul 7, 2022
STAC32Jul 7, 2022
STAT11May 26, 2021
STIM11May 26, 2021
STK1116Mar 9, 2018
STOM2May 26, 2021
STX1B1Jul 7, 2022
STXBP12May 26, 2021
STXBP26Jul 7, 2022
SUCLA27Jul 7, 2022
SUCLG15May 23, 2018
SUGCT13May 23, 2018
SUMF111May 26, 2021
SURF19Jul 7, 2022
SYNE126Jul 7, 2022
SYNGAP11Feb 28, 2018
SYNGAP1-AS11Feb 28, 2018
SZT27Jul 7, 2022
TACO12May 23, 2018
TAFAZZIN3May 26, 2021
TALDO11Jul 7, 2022
TARS29May 23, 2018
TBC1D246Jul 7, 2022
TBX11Jul 7, 2022
TBX41Feb 28, 2018
TCAP4Jul 7, 2022
TCF42May 26, 2021
TDP12Jul 7, 2022
TECPR29Jul 7, 2022
TERC4Jul 7, 2022
TERT16Jul 7, 2022
TFG4Jul 7, 2022
TGFB21May 26, 2021
TGFB32Jul 7, 2022
TGFBR11May 26, 2021
TGFBR22May 26, 2021
THAP11Feb 28, 2018
THAP111Jul 7, 2022
THBD11Jul 7, 2022
THG1L2Feb 28, 2018
TIA14Jul 7, 2022
TIMM4414May 23, 2018
TIMM8A2May 23, 2018
TINF22Jul 7, 2022
TJP22Jul 7, 2022
TK23May 23, 2018
TMCO61May 23, 2018
TMEM126A5May 23, 2018
TMEM2161Jun 9, 2022
TMEM433May 26, 2021
TMEM706May 23, 2018
TMPPE3Jul 7, 2022
TNFRSF11A1Feb 28, 2018
TNFRSF13B4May 26, 2021
TNFRSF1A3Jul 7, 2022
TNNC12May 26, 2021
TNNI34Mar 9, 2022
TNNT25Jul 7, 2022
TNPO31May 26, 2021
TOE11Oct 31, 2017
TP5348May 26, 2021
TPI12Jul 7, 2022
TPK11May 23, 2018
TPM13May 26, 2021
TPM22May 26, 2021
TPM31May 23, 2022
TPP126Jul 7, 2022
TRAP118May 23, 2018
TRAPPC92Feb 28, 2018
TRDN3Jul 7, 2022
TRIM25Jul 7, 2022
TRIM325May 26, 2021
TRIM377Jul 7, 2022
TRIOBP1Feb 28, 2018
TRMU10Jul 7, 2022
TRPA11May 26, 2021
TRPV413Jul 7, 2022
TSC111May 23, 2022
TSC221Jul 7, 2022
TSFM4May 23, 2018
TSPAN16Jul 7, 2022
TTC193May 23, 2018
TTC7A8May 26, 2021
TTN300Jul 7, 2022
TTN-AS1187Jul 7, 2022
TTPA1Jul 7, 2022
TTR4May 26, 2021
TUBA1A1Jul 18, 2018
TUBA82May 26, 2021
TUBB32Jul 7, 2022
TUBB62May 23, 2018
TUFM1May 23, 2018
TUSC31Feb 28, 2018
TWNK12Jul 7, 2022
TYMP25May 28, 2021
UBE3A1May 26, 2021
UBQLN21Jul 7, 2022
UGT1A11Jul 7, 2022
UGT1A111Jul 7, 2022
UGT1A1011Jul 7, 2022
UGT1A311Jul 7, 2022
UGT1A411Jul 7, 2022
UGT1A511Jul 7, 2022
UGT1A611Jul 7, 2022
UGT1A711Jul 7, 2022
UGT1A811Jul 7, 2022
UGT1A911Jul 7, 2022
UNG1Jul 7, 2022
UPF3B1Feb 28, 2018
UQCRB1May 23, 2018
UQCRC26May 23, 2018
UQCRQ1May 23, 2018
UROD3Jul 7, 2022
USB17Jul 7, 2022
USH1G1Feb 28, 2018
USH2A1Jul 18, 2018
USP9X3Jul 18, 2018
VARS234Jul 7, 2022
VAV11Feb 28, 2018
VCL7Jul 7, 2022
VCP1May 26, 2021
VEPH11Feb 28, 2018
VLDLR3Jul 7, 2022
VPS13B15Jul 7, 2022
VPS13C1Feb 28, 2018
VPS33A1Jul 7, 2022
VPS33B1Jul 7, 2022
VPS37A2Jul 7, 2022
VPS454May 26, 2021
VWF13Jul 7, 2022
WAS3May 26, 2021
WASHC58Jul 7, 2022
WDR6212Jul 7, 2022
WDR811Feb 28, 2018
WIPF13Jul 7, 2022
WNK116Jul 7, 2022
WRAP532May 26, 2021
WWOX5May 26, 2021
XIAP1May 26, 2021
XPA4Jul 7, 2022
XPC9Jul 7, 2022
XPNPEP32May 23, 2018
XYLT11Jul 7, 2022
YARS12May 26, 2021
YARS28May 23, 2018
ZAP704Jul 7, 2022
ZBTB181Feb 28, 2018
ZC4H21Feb 28, 2018
ZDHHC241Feb 28, 2018
ZEB22May 26, 2021
ZFYVE2625Jul 7, 2022
ZNF1481Feb 28, 2018
ZNF2765Jul 7, 2022
ZNF518A1May 26, 2021

Condition

NameSubmissionsLast Updated
3-methylglutaconic aciduria type 12Feb 28, 2018
3MC syndrome 11Feb 28, 2018
4p partial monosomy syndrome1Feb 28, 2018
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome1Feb 28, 2018
ALG12-congenital disorder of glycosylation1Feb 28, 2018
ALG8 congenital disorder of glycosylation2Feb 28, 2018
Aarskog syndrome1Feb 28, 2018
Achondrogenesis type II1Feb 28, 2018
Acyl-CoA oxidase deficiency1Feb 28, 2018
Adams-Oliver syndrome 51Feb 28, 2018
Adenylosuccinate lyase deficiency1Feb 28, 2018
Adrenoleukodystrophy3Jul 18, 2018
Adult polyglucosan body disease2Feb 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 21Feb 28, 2018
Arterial calcification, generalized, of infancy, 12Feb 28, 2018
Arthrogryposis, distal, with impaired proprioception and touch3Feb 28, 2018
Aspartylglucosaminuria1Feb 28, 2018
Ataxia - oculomotor apraxia type 41Feb 28, 2018
Ataxia-hypogonadism-choroidal dystrophy syndrome1Feb 28, 2018
Ataxia-telangiectasia syndrome1Jul 18, 2018
Atopic dermatitis 22Feb 28, 2018
Atrial septal defect 71Feb 28, 2018
Autism spectrum disorder due to AUTS2 deficiency1Feb 28, 2018
Autosomal dominant Charcot-Marie-Tooth disease type 2W1Feb 28, 2018
Autosomal dominant centronuclear myopathy1Jul 18, 2018
Autosomal dominant cerebellar ataxia, deafness and narcolepsy1Feb 28, 2018
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures1Feb 28, 2018
Autosomal dominant nonsyndromic hearing loss 112Feb 28, 2018
Autosomal recessive Parkinson disease 141Feb 28, 2018
Autosomal recessive Robinow syndrome1Feb 28, 2018
Autosomal recessive ataxia due to ubiquinone deficiency1Feb 28, 2018
Autosomal recessive ataxia, Beauce type1Feb 28, 2018
Autosomal recessive early-onset Parkinson disease 231Feb 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 limb-girdle muscular dystrophy type 2I1Feb 28, 2018
Autosomal recessive limb-girdle muscular dystrophy type 2J4Feb 28, 2018
Autosomal recessive limb-girdle muscular dystrophy type 2Q1Feb 28, 2018
Autosomal recessive multiple pterygium syndrome1Feb 28, 2018
Autosomal recessive nonsyndromic hearing loss 21Feb 28, 2018
Autosomal recessive nonsyndromic hearing loss 281Feb 28, 2018
Autosomal recessive nonsyndromic hearing loss 41Feb 28, 2018
Autosomal recessive nonsyndromic hearing loss 771Feb 28, 2018
Autosomal recessive polycystic kidney disease1Feb 28, 2018
Autosomal recessive spinocerebellar ataxia 141Feb 28, 2018
Avascular necrosis of femoral head, primary, 11Feb 28, 2018
BENTA disease1Jul 18, 2018
Bardet-Biedl syndrome 11Feb 28, 2018
Bardet-Biedl syndrome 111Feb 28, 2018
Benign scapuloperoneal muscular dystrophy with cardiomyopathy1Jul 18, 2018
Bethlem myopathy 12Feb 28, 2018
Biotin-responsive basal ganglia disease1Feb 28, 2018
Bloom syndrome2Jul 18, 2018
Bosch-Boonstra-Schaaf optic atrophy syndrome2Feb 28, 2018
CBL-related disorder1Feb 28, 2018
CODAS syndrome1Feb 28, 2018
Catecholaminergic polymorphic ventricular tachycardia 11Feb 28, 2018
Central core myopathy1Feb 28, 2018
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 21Feb 28, 2018
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 41Feb 28, 2018
Cerebroretinal microangiopathy with calcifications and cysts 12Jul 18, 2018
Charcot-Marie-Tooth disease axonal type 2O1Feb 28, 2018
Charcot-Marie-Tooth disease dominant intermediate B1Jul 18, 2018
Charcot-Marie-Tooth disease type 2B11Jul 18, 2018
Charcot-Marie-Tooth disease type 2D1Feb 28, 2018
Charcot-Marie-Tooth disease type 4F1Feb 28, 2018
Charlevoix-Saguenay spastic ataxia1Jul 18, 2018
Ciliary dyskinesia, primary, 36, X-linked1Jul 18, 2018
Coffin-Lowry syndrome1Feb 28, 2018
Cohen syndrome1Feb 28, 2018
Combined immunodeficiency due to LRBA deficiency3Feb 28, 2018
Combined immunodeficiency due to MALT1 deficiency1Feb 28, 2018
Combined malonic and methylmalonic acidemia2Feb 28, 2018
Combined oxidative phosphorylation defect type 151Feb 28, 2018
Combined oxidative phosphorylation defect type 71Feb 28, 2018
Combined oxidative phosphorylation deficiency 191Feb 28, 2018
Complement component 5 deficiency1Feb 28, 2018
Cone-rod dystrophy 151Feb 28, 2018
Cone-rod dystrophy 51Feb 28, 2018
Congenital afibrinogenemia2Feb 28, 2018
Congenital bile acid synthesis defect 61Jul 18, 2018
Congenital diarrhea 7 with exudative enteropathy1Feb 28, 2018
Congenital heart defects, multiple types, 41Feb 28, 2018
Congenital muscular dystrophy due to LMNA mutation1Jul 18, 2018
Congenital muscular dystrophy due to integrin alpha-7 deficiency1Feb 28, 2018
Congenital muscular hypertrophy-cerebral syndrome1Feb 28, 2018
Congenital myasthenic syndrome 102Feb 28, 2018
Congenital myasthenic syndrome 111Feb 28, 2018
Congenital myasthenic syndrome 131Feb 28, 2018
Congenital myasthenic syndrome 52Feb 28, 2018
Congenital myasthenic syndrome 81Feb 28, 2018
Congenital myopathy with fiber type disproportion1Jul 18, 2018
Congenital myotonia, autosomal recessive form2Feb 28, 2018
Congenital secretory sodium diarrhea 81Feb 28, 2018
Corneal dystrophy, Fuchs endothelial, 31Jul 18, 2018
Curry-Hall syndrome1Feb 28, 2018
Cutis laxa, autosomal dominant 11Feb 28, 2018
Cystic fibrosis1Feb 28, 2018
Cytochrome-c oxidase deficiency disease1Feb 28, 2018
Czech dysplasia, metatarsal type1Feb 28, 2018
DPAGT1-CDG1Feb 28, 2018
Deficiency of alpha-mannosidase3Feb 28, 2018
Dejerine-Sottas disease1Feb 28, 2018
Developmental and epileptic encephalopathy 941Feb 28, 2018
Developmental and epileptic encephalopathy, 112Jul 18, 2018
Developmental and epileptic encephalopathy, 131Feb 28, 2018
Developmental and epileptic encephalopathy, 162Feb 28, 2018
Developmental and epileptic encephalopathy, 271Jul 18, 2018
Developmental and epileptic encephalopathy, 291Feb 28, 2018
Developmental and epileptic encephalopathy, 421Jul 16, 2018
Developmental and epileptic encephalopathy, 72Feb 28, 2018
Developmental delay with autism spectrum disorder and gait instability2Jul 18, 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 myopathy with anterior tibial onset1Feb 28, 2018
Distichiasis-lymphedema syndrome1Feb 28, 2018
Dyskeratosis congenita, autosomal dominant 21Feb 28, 2018
Dystonia 28, childhood-onset1Jul 18, 2018
EAST syndrome1Feb 28, 2018
Ehlers-Danlos syndrome, classic type2Jul 16, 2018
Ehlers-Danlos syndrome, type 41Mar 9, 2022
Eichsfeld type congenital muscular dystrophy1Jul 18, 2018
Ellis-van Creveld syndrome1Feb 28, 2018
Emery-Dreifuss muscular dystrophy 3, autosomal recessive1Jul 18, 2018
Epilepsy, childhood absence, susceptibility to, 51Feb 28, 2018
Epilepsy, childhood absence, susceptibility to, 62Feb 28, 2018
Epilepsy, familial adult myoclonic, 51Feb 28, 2018
Epilepsy, familial focal, with variable foci 11Feb 28, 2018
Epilepsy, familial temporal lobe, 11Feb 28, 2018
Epilepsy, idiopathic generalized, susceptibility to, 121Feb 28, 2018
Epilepsy, idiopathic generalized, susceptibility to, 92Jul 18, 2018
Epiphyseal dysplasia, multiple, 21Feb 28, 2018
Epiphyseal dysplasia, multiple, 61Feb 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 infantile myasthenia2Feb 28, 2018
Familial infantile myoclonic epilepsy1Feb 28, 2018
Familial partial lipodystrophy, Dunnigan type1Jul 18, 2018
Familial temporal lobe epilepsy 72Feb 28, 2018
Fanconi anemia complementation group A1Feb 28, 2018
Fetal akinesia deformation sequence 11Feb 28, 2018
Fetal akinesia-cerebral and retinal hemorrhage syndrome1Jul 18, 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 due to phosphoglycerate kinase 1 deficiency1Feb 28, 2018
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 sensory neuropathy-deafness-dementia syndrome1Feb 28, 2018
Hereditary spastic paraplegia 151Nov 19, 2019
Hereditary spastic paraplegia 21Jul 18, 2018
Hereditary spastic paraplegia 353Feb 28, 2018
Hereditary spastic paraplegia 391Feb 28, 2018
Hereditary spastic paraplegia 551Feb 28, 2018
Hereditary spastic paraplegia 641Feb 28, 2018
Hereditary spastic paraplegia 71Jul 18, 2018
Hereditary spherocytosis type 31Feb 28, 2018
Heterotopia, periventricular, X-linked dominant1Feb 28, 2018
Holocarboxylase synthetase deficiency1Feb 28, 2018
Hutchinson-Gilford syndrome1Jul 18, 2018
Hypercholesterolemia, familial, 15May 27, 2021
Hyperinsulinemic hypoglycemia, familial, 11Feb 28, 2018
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1Feb 28, 2018
Hyperphosphatasia with intellectual disability syndrome 12Feb 28, 2018
Hyperphosphatasia with intellectual disability syndrome 41Feb 28, 2018
Hypertrophic cardiomyopathy 251Feb 28, 2018
Hypomyelinating leukodystrophy 21Feb 28, 2018
Hypophosphatemic rickets, autosomal recessive, 22Feb 28, 2018
Hypotonia, ataxia, and delayed development syndrome1Feb 28, 2018
Ichthyosis vulgaris2Feb 28, 2018
Immunodeficiency 11b with atopic dermatitis1Jul 18, 2018
Immunodeficiency due to MASP-2 deficiency1Feb 28, 2018
Infantile GM1 gangliosidosis2Jul 18, 2018
Infantile cerebellar-retinal degeneration2Jul 18, 2018
Infantile neuroaxonal dystrophy2Feb 28, 2018
Intellectual disability, X-linked 1021Feb 28, 2018
Intellectual disability, X-linked 191Feb 28, 2018
Intellectual disability, X-linked 992Jul 18, 2018
Intellectual disability, X-linked 99, syndromic, female-restricted1Feb 28, 2018
Intellectual disability, X-linked syndromic, Turner type1Feb 28, 2018
Intellectual disability, autosomal dominant 11Feb 28, 2018
Intellectual disability, autosomal dominant 131Feb 28, 2018
Intellectual disability, autosomal dominant 221Feb 28, 2018
Intellectual disability, autosomal dominant 51Feb 28, 2018
Intellectual disability, autosomal dominant 61Jul 18, 2018
Intellectual disability, autosomal recessive 132Feb 28, 2018
Intellectual disability, autosomal recessive 181Feb 28, 2018
Intellectual disability, autosomal recessive 462Feb 28, 2018
Intellectual disability, autosomal recessive 71Feb 28, 2018
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome1Jul 18, 2018
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome1Feb 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 anomaly-myopathy-facial dysmorphism syndrome1Feb 28, 2018
Kniest dysplasia1Feb 28, 2018
Koolen-de Vries syndrome1Feb 28, 2018
Landau-Kleffner syndrome1Feb 28, 2018
Laron-type isolated somatotropin defect1Feb 28, 2018
Larsen-like syndrome, B3GAT3 type1Feb 28, 2018
Laurence-Moon syndrome1Feb 28, 2018
Legg-Calve-Perthes disease1Feb 28, 2018
Leigh syndrome1Feb 28, 2018
Lethal multiple pterygium syndrome1Feb 28, 2018
Lethal tight skin contracture syndrome1Jul 18, 2018
Lissencephaly due to TUBA1A mutation1Jul 18, 2018
Lissencephaly type 1 due to doublecortin gene mutation1Feb 28, 2018
Loeys-Dietz syndrome 21Feb 28, 2018
MASA syndrome1Feb 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
Merosin deficient congenital muscular dystrophy3Feb 28, 2018
Methylmalonic acidemia with homocystinuria, type cblX1Feb 28, 2018
Microcephaly 1, primary, autosomal recessive1Feb 28, 2018
Microcephaly 3, primary, autosomal recessive3Feb 28, 2018
Microcephaly 5, primary, autosomal recessive2Feb 28, 2018
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability1Feb 28, 2018
Microcephaly, seizures, and developmental delay1Feb 28, 2018
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive1Jul 18, 2018
Mitochondrial DNA depletion syndrome 31Feb 28, 2018
Mitochondrial DNA depletion syndrome 4b2Feb 28, 2018
Mitochondrial DNA depletion syndrome, myopathic form1Feb 28, 2018
Mitochondrial complex I deficiency3Jul 18, 2018
Mitochondrial complex III deficiency nuclear type 21Feb 28, 2018
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency2Feb 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 type 41Feb 28, 2018
Multiple epiphyseal dysplasia, Beighton type1Feb 28, 2018
Multiple gastrointestinal atresias1Feb 28, 2018
Muscle AMP deaminase deficiency2Feb 28, 2018
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A51Feb 28, 2018
Muscular dystrophy-dystroglycanopathy type B51Feb 28, 2018
Myopathy due to calsequestrin and SERCA1 protein overload1Feb 28, 2018
Myopathy, centronuclear, 21Feb 28, 2018
Myopathy, myofibrillar, 9, with early respiratory failure1Feb 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
Neuronopathy, distal hereditary motor, type 5A1Feb 28, 2018
Niemann-Pick disease, type C12Feb 28, 2018
Norman-Roberts syndrome1Feb 28, 2018
Occipital pachygyria and polymicrogyria1Feb 28, 2018
Otospondylomegaepiphyseal dysplasia, autosomal dominant1Feb 28, 2018
PMM2-CDG2Jul 18, 2018
Paget disease of bone 2, early-onset1Feb 28, 2018
Parkinsonism-dystonia, infantile, 11Feb 28, 2018
Paroxysmal nocturnal hemoglobinuria 21Feb 28, 2018
Pelizaeus-Merzbacher disease1Jul 18, 2018
Periodic fever-infantile enterocolitis-autoinflammatory syndrome2Feb 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 5A (Zellweger)2Feb 28, 2018
Peroxisome biogenesis disorder 5B2Feb 28, 2018
Peroxisome biogenesis disorder 7B1Feb 28, 2018
Peters plus syndrome1Feb 28, 2018
Phenylketonuria2Feb 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 ciliary dyskinesia 131Feb 28, 2018
Primary ciliary dyskinesia 171Feb 28, 2018
Primary ciliary dyskinesia 211Feb 28, 2018
Primary ciliary dyskinesia 291Feb 28, 2018
Primary ciliary dyskinesia 34Feb 28, 2018
Primary ciliary dyskinesia 51Feb 28, 2018
Primary ciliary dyskinesia 71Feb 28, 2018
Primary ciliary dyskinesia 91Jul 16, 2018
Progressive sclerosing poliodystrophy3Feb 28, 2018
Proline dehydrogenase deficiency2Feb 28, 2018
Pulmonary hypertension, primary, 41Feb 28, 2018
Pyruvate dehydrogenase E2 deficiency2Feb 28, 2018
RFT1-CDG1Feb 28, 2018
Rafiq syndrome1Feb 28, 2018
Renal carnitine transport defect1Feb 28, 2018
Rett syndrome2Jul 18, 2018
Rhizomelic chondrodysplasia punctata type 51Feb 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, benign familial neonatal, 12Feb 28, 2018
Seizures, benign familial neonatal, 21Feb 28, 2018
Seizures-scoliosis-macrocephaly syndrome2Feb 28, 2018
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis3Jul 18, 2018
Severe combined immunodeficiency due to CARD11 deficiency1Jul 18, 2018
Severe combined immunodeficiency due to IKK2 deficiency2Feb 28, 2018
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome1Feb 28, 2018
Severe intellectual disability-progressive spastic diplegia syndrome1Jul 18, 2018
Short stature due to partial GHR deficiency2Feb 28, 2018
Singleton-Merten syndrome 11Feb 28, 2018
Spastic ataxia 51Feb 28, 2018
Spastic paraplegia 52, autosomal recessive1Feb 28, 2018
Spinocerebellar ataxia type 281Feb 28, 2018
Spinocerebellar ataxia type 51Feb 28, 2018
Spondyloepimetaphyseal dysplasia with multiple dislocations1Feb 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 141Feb 28, 2018
Tay-Sachs disease1Jul 18, 2018
Telangiectasia, hereditary hemorrhagic, type 14May 27, 2021
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 type 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 syndrome1Feb 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
X-linked intellectual disability-psychosis-macroorchidism syndrome1Feb 28, 2018
ZTTK syndrome1Feb 28, 2018
not provided7833Jul 7, 2022
not specified464Oct 31, 2017
von Willebrand disease type 21Feb 28, 2018

Testing in GTR

Disease nameNumber of tests
2-hydroxyglutaric aciduria1 test
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 leukemia2 tests
Adams-Oliver syndrome 51 test
Adrenoleukodystrophy1 test
Adult Krabbe disease1 test
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy1 test
Afibrinogenemia1 test
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
Aganglionic megacolon1 test
Alagille syndrome due to a JAG1 point mutation1 test
Alagille syndrome due to a NOTCH2 point mutation1 test
Alkaptonuria1 test
Allopurinol response1 test
Alpha-1-antitrypsin deficiency1 test
Alzheimer disease 21 test
Ambiguous genitalia1 test
Amyloidogenic transthyretin amyloidosis1 test
Amyotrophic lateral sclerosis1 test
Amyotrophic neuralgia1 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
Aortic valve disease 11 test
Apolipoprotein A-II deficiency1 test
Arrhythmogenic cardiomyopathy2 tests
Arrhythmogenic cardiomyopathy with woolly hair and keratoderma1 test
Arrhythmogenic right ventricular dysplasia 102 tests
Arrhythmogenic right ventricular dysplasia 111 test
Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair1 test
Arrhythmogenic right ventricular dysplasia 122 tests
Arrhythmogenic right ventricular dysplasia 22 tests
Arrhythmogenic right ventricular dysplasia 52 tests
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
Arterial tortuosity syndrome1 test
Asperger syndrome1 test
Ataxia-telangiectasia syndrome1 test
Atazanavir response2 tests
Atomoxetine response1 test
Atorvastatin response1 test
Atypical hemolytic-uremic syndrome2 tests
Autism spectrum disorder2 tests
Autoimmune disease, multisystem, infantile-onset, 21 test
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome1 test
Autoimmune lymphoproliferative syndrome type 11 test
Autoimmune lymphoproliferative syndrome type 41 test
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD1 test
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation2 tests
Autoinflammatory syndrome1 test
Autoinflammatory syndrome, familial, Behcet-like1 test
Autosomal chromosomal disorder5 tests
Autosomal dominant hypocalcemia 11 test
Autosomal recessive agammaglobulinemia 11 test
Autosomal recessive dyskeratosis congenita 41 test
Autosomal recessive familial Mediterranean fever1 test
Autosomal recessive lower motor neuron disease with childhood onset1 test
Autosomal recessive polycystic kidney disease1 test
Autosomal recessive severe congenital neutropenia1 test
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency1 test
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency2 tests
Autosomal uniparental disomy1 test
Azathioprine response1 test
Azorean disease1 test
B Acute Lymphoblastic Leukemia1 test
BAP1-related tumor predisposition syndrome1 test
BENTA disease1 test
Bare lymphocyte syndrome type 2, complementation group A1 test
Batten-Turner congenital myopathy1 test
Becker muscular dystrophy1 test
Beckwith-Wiedemann syndrome2 tests
Belinostat response2 tests
Beta-thalassemia and related diseases1 test
Biotinidase deficiency1 test
Blau syndrome1 test
Brain small vessel disease 1 with or without ocular anomalies1 test
Brugada syndrome1 test
Bupropion response1 test
Burkitt lymphoma1 test
CBL-related disorder2 tests
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, hypertrophic, 1, digenic2 tests
Cardiomyopathy, hypertrophic, 23, with or without LVNC2 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
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy1 test
Cernunnos-XLF deficiency1 test
Charcot-Marie-Tooth disease1 test
Charcot-Marie-Tooth disease, type IA1 test
Childhood onset GLUT1 deficiency syndrome 21 test
Chlorpropamide response1 test
Cholestanol storage disease3 tests
Cholestasis, infantile, NR1H4 related1 test
Cholestasis, progressive familial intrahepatic, 41 test
Cholestasis, progressive familial intrahepatic, 51 test
Chromosome 22q11.2 microduplication syndrome1 test
Chronic granulomatous disease2 tests
Chronic infantile neurological, cutaneous and articular syndrome1 test
Chronic myelomonocytic leukemia1 test
Citalopram response2 tests
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1 test
Classic homocystinuria2 tests
Clopidogrel response1 test
Coats plus syndrome1 test
Cobalamin C disease1 test
Codeine response1 test
Cohen syndrome1 test
Cold-induced sweating syndrome 11 test
Cold-induced sweating syndrome 21 test
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia1 test
Combined immunodeficiency due to CD3gamma deficiency2 tests
Combined immunodeficiency due to DOCK8 deficiency1 test
Combined immunodeficiency due to LRBA deficiency2 tests
Combined immunodeficiency due to MALT1 deficiency2 tests
Combined immunodeficiency due to ORAI1 deficiency1 test
Combined immunodeficiency due to OX40 deficiency1 test
Combined immunodeficiency due to STIM1 deficiency1 test
Combined immunodeficiency due to STK4 deficiency1 test
Combined immunodeficiency due to ZAP70 deficiency1 test
Combined immunodeficiency due to partial RAG1 deficiency1 test
Combined immunodeficiency with faciooculoskeletal anomalies1 test
Combined immunodeficiency with skin granulomas2 tests
Combined immunodeficiency, X-linked2 tests
Complement factor b deficiency1 test
Complete trisomy 13 syndrome3 tests
Complete trisomy 18 syndrome3 tests
Complete trisomy 21 syndrome3 tests
Congenital adrenal hyperplasia1 test
Congenital afibrinogenemia2 tests
Congenital bilateral aplasia of vas deferens from CFTR mutation2 tests
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome1 test
Congenital chromosomal disease5 tests
Congenital contractural arachnodactyly1 test
Congenital defect of folate absorption1 test
Congenital disorder of glycosylation3 tests
Congenital dyserythropoietic anemia2 tests
Congenital dyserythropoietic anemia type 41 test
Congenital dyserythropoietic anemia, type I1 test
Congenital dyserythropoietic anemia, type II1 test
Congenital long QT syndrome1 test
Congenital myasthenic syndrome1 test
Congenital myopathy1 test
Congenital neutropenia1 test
Congenital neutropenia-myelofibrosis-nephromegaly syndrome1 test
Congenital prothrombin deficiency1 test
Congenital sensory neuropathy with selective loss of small myelinated fibers1 test
Costello syndrome2 tests
Crigler-Najjar syndrome3 tests
Crigler-Najjar syndrome type 12 tests
Crigler-Najjar syndrome, type II1 test
Cryptosporidiosis-chronic cholangitis-liver disease syndrome2 tests
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
DNA ligase IV deficiency2 tests
Danon disease3 tests
Deafness-lymphedema-leukemia syndrome3 tests
Deficiency of butyryl-CoA dehydrogenase1 test
Deficiency of isobutyryl-CoA dehydrogenase3 tests
Deficiency of malonyl-CoA decarboxylase1 test
Dehydrated hereditary stomatocytosis 21 test
Delayed puberty1 test
Dentatorubral-pallidoluysian atrophy1 test
Developmental and epileptic encephalopathy, 11 test
Developmental and epileptic encephalopathy, 111 test
Developmental and epileptic encephalopathy, 21 test
Developmental and epileptic encephalopathy, 31 test
Developmental and epileptic encephalopathy, 41 test
Developmental and epileptic encephalopathy, 431 test
Developmental and epileptic encephalopathy, 51 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 1NN1 test
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
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 protein N-glycosylation1 test
Disorder of the urea cycle metabolism1 test
Disorder of tyrosine metabolism1 test
Distal myopathy1 test
Distal weakness1 test
Dizygotic twins1 test
Dominant beta-thalassemia2 tests
Drug metabolism or response16 tests
Duchenne muscular dystrophy1 test
Dysfibrinogenemia1 test
Dyskeratosis congenita2 tests
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 11 test
Dyskeratosis congenita, autosomal recessive 21 test
Dyskeratosis congenita, autosomal recessive 31 test
Dyskeratosis congenita, autosomal recessive 51 test
Dysplasminogenemia1 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 1, isolated, autosomal dominant1 test
Efavirenz response1 test
Ehlers-Danlos syndrome2 tests
Ehlers-Danlos syndrome, arthrochalasis type1 test
Ehlers-Danlos syndrome, cardiac valvular type1 test
Ehlers-Danlos syndrome, classic type1 test
Ehlers-Danlos syndrome, classic type, 12 tests
Ehlers-Danlos syndrome, classic type, 21 test
Ehlers-Danlos syndrome, dermatosparaxis type1 test
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type1 test
Ehlers-Danlos syndrome, kyphoscoliotic type 11 test
Ehlers-Danlos syndrome, musculocontractural type1 test
Ehlers-Danlos syndrome, spondylocheirodysplastic type1 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
Episodic pain syndrome, familial, 21 test
Erythrocytosis1 test
Erythropoietic protoporphyria1 test
Escitalopram response2 tests
Fabry disease4 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 Mediterranean fever, autosomal dominant1 test
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial aortopathy2 tests
Familial atrial myxoma1 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 dysautonomia1 test
Familial episodic pain syndrome with predominantly lower limb involvement1 test
Familial episodic pain syndrome with predominantly upper body involvement1 test
Familial erythrocytosis1 test
Familial hemiplegic migraine1 test
Familial hemophagocytic lymphohistiocytosis1 test
Familial hypercholesterolemia1 test
Familial hypocalciuric hypercalcemia 11 test
Familial hypodysfibrinogenemia1 test
Familial hypoparathyroidism1 test
Familial intrahepatic cholestasis1 test
Familial isolated dilated cardiomyopathy1 test
Familial pancreatic carcinoma1 test
Familial primary hyperparathyroidism1 test
Familial prostate carcinoma1 test
Familial thoracic aortic aneurysm and aortic dissection1 test
Familial type 3 hyperlipoproteinemia1 test
Familial visceral amyloidosis, Ostertag type3 tests
Fanconi anemia1 test
Febrile seizures, familial, 111 test
Febrile seizures, familial, 3a1 test
Febrile seizures, familial, 81 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-associated tremor/ataxia syndrome1 test
Friedreich ataxia1 test
Friedreich ataxia 11 test
Friedreich ataxia with retained reflexes1 test
Frontotemporal dementia2 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis1 test
Fumarase deficiency1 test
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis1 test
GLUT1 deficiency syndrome2 tests
Galactosemia2 tests
Galactosylceramide beta-galactosidase deficiency5 tests
Gamma-glutamylcysteine synthetase deficiency2 tests
Gaucher disease3 tests
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
Generalized pustular psoriasis1 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
Glutamate formiminotransferase deficiency1 test
Glutaric acidemia IIa1 test
Glutaric acidemia IIb1 test
Glutaric acidemia IIc1 test
Glutaric aciduria, type 13 tests
Glutathione synthetase deficiency without 5-oxoprolinuria2 tests
Glycogen storage disease1 test
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1 test
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency1 test
Glycogen storage disease, type I2 tests
Glycogen storage disease, type II6 tests
Glycogen storage disease, type VII2 tests
Granulomatous disease, chronic, X-linked2 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative1 test
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 21 test
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 31 test
Growth hormone insensitivity syndrome with immune dysregulation1 test
HNSHA due to aldolase A deficiency2 tests
Haim-Munk syndrome1 test
Hearing loss, autosomal dominant 34, with or without inflammation1 test
Hematologic disorder1 test
Hematologic neoplasm2 tests
Heme oxygenase 1 deficiency2 tests
Hemolytic anemia2 tests
Hemolytic anemia due to adenylate kinase deficiency2 tests
Hemolytic anemia due to glucophosphate isomerase deficiency2 tests
Hemolytic anemia due to glutathione reductase deficiency1 test
Hemolytic anemia due to hexokinase deficiency2 tests
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency2 tests
Hemophilia2 tests
Hemophilia B Leyden1 test
Hepatitis C virus infection, response to therapy of1 test
Hereditary ATTR amyloidosis3 tests
Hereditary Paraganglioma-Pheochromacytoma Syndrome1 test
Hereditary Wilms tumor1 test
Hereditary angioedema type 31 test
Hereditary antithrombin deficiency1 test
Hereditary breast and/or gynecological cancer syndrome1 test
Hereditary breast ovarian cancer syndrome1 test
Hereditary cancer-predisposing syndrome3 tests
Hereditary coproporphyria2 tests
Hereditary diffuse gastric adenocarcinoma1 test
Hereditary elliptocytosis2 tests
Hereditary endocrine tumor syndrome1 test
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 gastrointestinal cancer and/or polyposis syndrome1 test
Hereditary hearing loss and deafness1 test
Hereditary hemorrhagic telangiectasia1 test
Hereditary hyperbilirubinemia1 test
Hereditary insensitivity to pain with anhidrosis1 test
Hereditary leiomyomatosis and renal cell cancer1 test
Hereditary liability to pressure palsies1 test
Hereditary motor and sensory neuropathy1 test
Hereditary non-spherocytic hemolytic anemia2 tests
Hereditary pancreatitis3 tests
Hereditary pulmonary alveolar proteinosis1 test
Hereditary sensory and autonomic neuropathy type 61 test
Hereditary sensory and autonomic neuropathy type 71 test
Hereditary sensory and autonomic neuropathy with spastic paraplegia1 test
Hereditary sensory neuropathy-deafness-dementia syndrome1 test
Hereditary spastic paraplegia1 test
Hereditary spherocytosis2 tests
Hereditary spherocytosis type 12 tests
Hereditary spherocytosis type 22 tests
Hereditary spherocytosis type 32 tests
Hereditary spherocytosis type 42 tests
Hereditary spherocytosis type 52 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
Heterotopia, periventricular, X-linked dominant2 tests
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
Hypercholesterolemia, autosomal dominant, 31 test
Hypercholesterolemia, autosomal dominant, type B1 test
Hypercholesterolemia, familial, 11 test
Hypercholesterolemia, familial, 41 test
Hyperimmunoglobulin D with periodic fever2 tests
Hyperimmunoglobulin M syndrome2 tests
Hyperkalemic periodic paralysis1 test
Hypertrophic cardiomyopathy2 tests
Hypertrophic cardiomyopathy 12 tests
Hypertrophic cardiomyopathy 102 tests
Hypertrophic cardiomyopathy 112 tests
Hypertrophic cardiomyopathy 122 tests
Hypertrophic cardiomyopathy 132 tests
Hypertrophic cardiomyopathy 152 tests
Hypertrophic cardiomyopathy 162 tests
Hypertrophic cardiomyopathy 182 tests
Hypertrophic cardiomyopathy 22 tests
Hypertrophic cardiomyopathy 202 tests
Hypertrophic cardiomyopathy 32 tests
Hypertrophic cardiomyopathy 42 tests
Hypertrophic cardiomyopathy 62 tests
Hypertrophic cardiomyopathy 72 tests
Hypertrophic cardiomyopathy 82 tests
Hypertrophic cardiomyopathy 93 tests
Hypoalphalipoproteinemia, primary, 11 test
Hypokalemic periodic paralysis1 test
IL21-related infantile inflammatory bowel disease2 tests
IMAGe syndrome1 test
Idiopathic Pulmonary Fibrosis1 test
Idiopathic hypereosinophilic syndrome1 test
Immunodeficiency 11b with atopic dermatitis1 test
Immunodeficiency 142 tests
Immunodeficiency 14b, autosomal recessive1 test
Immunodeficiency 15a1 test
Immunodeficiency 18, severe combined immunodeficiency variant1 test
Immunodeficiency 191 test
Immunodeficiency 331 test
Immunodeficiency 362 tests
Immunodeficiency syndrome with autoimmunity1 test
Immunodeficiency, Polyendocrinopathy, and Enteropathy X-Linked Syndrome1 test
Immunodeficiency, common variable, 12 tests
Immunodeficiency, common variable, 101 test
Immunodeficiency, common variable, 21 test
Immunodeficiency, common variable, 31 test
Immunodeficiency, common variable, 41 test
Immunodeficiency, common variable, 51 test
Immunodeficiency, common variable, 61 test
Immunodeficiency, common variable, 71 test
Immunoglobulin A deficiency 21 test
Inborn errors of immunity4 tests
Inborn errors of metabolism1 test
Inborn mitochondrial myopathy1 test
Incontinentia pigmenti syndrome2 tests
Infantile Krabbe disease4 tests
Infertility1 test
Inflammatory bowel disease1 test
Inflammatory bowel disease 252 tests
Inflammatory bowel disease 282 tests
Inherited renal cancer-predisposing syndrome1 test
Irinotecan response2 tests
Jervell and Lange-Nielsen syndrome1 test
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1 test
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome2 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
Landau-Kleffner syndrome1 test
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 31 test
Loeys-Dietz syndrome1 test
Loeys-Dietz syndrome 11 test
Loeys-Dietz syndrome 21 test
Loeys-Dietz syndrome 41 test
Long QT syndrome1 test
Long QT syndrome 91 test
Lymphoblastic leukemia, acute, with lymphomatous features1 test
Lymphoproliferative syndrome 11 test
Lymphoproliferative syndrome 22 tests
Lynch syndrome1 test
Lysosomal storage disease1 test
MASS syndrome2 tests
MHC class I deficiency1 test
MHC class II deficiency1 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 syndrome2 tests
McLeod neuroacanthocytosis syndrome1 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency1 test
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency1 test
Mercaptopurine response1 test
Meretoja syndrome1 test
Metabolic myopathy1 test
Metachondromatosis1 test
Metachromatic leukodystrophy1 test
Methadone response1 test
Methylmalonic acidemia3 tests
Methylmalonic aciduria and homocystinuria type cblD1 test
Mevalonic aciduria2 tests
Migraine1 test
Miscarriage1 test
Mitochondrial complex I deficiency, mitochondrial type1 test
Mitochondrial complex III deficiency1 test
Mitochondrial disease4 tests
Mitochondrial disorder due to a defect in mitochondrial protein synthesis1 test
Mitochondrial encephalomyopathy1 test
Mitochondrial encephalopathy1 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
Monocytopenia with susceptibility to infections3 tests
Motor neuron disease1 test
Mucolipidosis type II1 test
Mucopolysaccharidosis2 tests
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 deficiency4 tests
Multiple endocrine neoplasia, type 21 test
Multiple fibrofolliculomas2 tests
Multiple gastrointestinal atresias1 test
Muscular dystrophy1 test
Myelodysplastic syndrome2 tests
Myeloperoxidase deficiency1 test
Myhre syndrome1 test
Myofibrillar myopathy1 test
Myopathy1 test
Myopathy and diabetes mellitus1 test
Myopathy with giant abnormal mitochondria1 test
Myopathy, lactic acidosis, and sideroblastic anemia1 test
NARP syndrome1 test
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID1 test
Naxos disease2 tests
Neonatal inflammatory skin and bowel disease1 test
Neonatal severe primary hyperparathyroidism1 test
Netherton syndrome1 test
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures1 test
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion1 test
Neuronal ceroid lipofuscinosis1 test
Neuronopathy, distal hereditary motor, type 2A1 test
Neuronopathy, distal hereditary motor, type 2B1 test
Neuronopathy, distal hereditary motor, type 2C1 test
Neuronopathy, distal hereditary motor, type 2D1 test
Neuronopathy, distal hereditary motor, type 5A1 test
Neuronopathy, distal hereditary motor, type 5B1 test
Neuronopathy, distal hereditary motor, type 5C1 test
Neuronopathy, distal hereditary motor, type 7A1 test
Neuronopathy, distal hereditary motor, type 7B1 test
Neuropathy, hereditary sensory and autonomic, type 1A1 test
Neuropathy, hereditary sensory and autonomic, type 1C1 test
Neuropathy, hereditary sensory and autonomic, type 2A1 test
Neuropathy, hereditary sensory and autonomic, type 2B1 test
Neuropathy, hereditary sensory, type 1D1 test
Neuropathy, hereditary sensory, type 2C1 test
Neutropenia, severe congenital, 1, autosomal dominant1 test
Neutropenia, severe congenital, 2, autosomal dominant1 test
Neutrophil immunodeficiency syndrome2 tests
Nevirapine response1 test
Nicotine addiction1 test
Niemann-Pick disease, type A4 tests
Niemann-Pick disease, type B4 tests
Niemann-Pick disease, type C3 tests
Nilotinib response2 tests
Nodular fasciitis1 test
Nonimmune chronic idiopathic neutropenia of adults1 test
Nonsteroidal anti-inflammatory drug 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
Ondansetron response1 test
Ophthalmoplegic neuromuscular disorder with abnormal mitochondria1 test
Otopalatodigital syndrome spectrum disorder1 test
PMM2-CDG1 test
PTEN hamartoma tumor syndrome1 test
Pancytopenia due to IKZF1 mutations1 test
Papillon-Lefèvre syndrome1 test
Parkes Weber syndrome1 test
Paroxetine response2 tests
Pazopanib response3 tests
Peginterferon alfa-2a response1 test
Peginterferon alfa-2b response1 test
Pegloticase response1 test
Periodic fever-infantile enterocolitis-autoinflammatory syndrome1 test
Periodontitis, aggressive 11 test
Peripheral neuropathy1 test
Peroxisome biogenesis disorder1 test
Peutz-Jeghers syndrome1 test
Phenylketonuria1 test
Phenytoin response2 tests
Phenytoin toxicity2 tests
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial1 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 type 11 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
Premature ovarian failure1 test
Premature ovarian failure 11 test
Primary CD59 deficiency1 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 immunodeficiency syndrome due to p14 deficiency1 test
Progeroid and marfanoid aspect-lipodystrophy syndrome1 test
Progressive familial intrahepatic cholestasis1 test
Progressive familial intrahepatic cholestasis type 31 test
Progressive myoclonic epilepsy1 test
Propionic acidemia2 tests
Proteasome-associated autoinflammatory syndrome 11 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
Pure gonadal dysgenesis 46,XY1 test
Pure mitochondrial myopathy1 test
Purine-nucleoside phosphorylase deficiency1 test
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1 test
Pyropoikilocytosis, hereditary2 tests
Pyruvate kinase deficiency of red cells3 tests
Qualitative or quantitative defects of dystrophin1 test
RASopathy1 test
RIDDLE syndrome1 test
Radial aplasia-thrombocytopenia syndrome1 test
Rasburicase response1 test
Recurrent Neisseria infections due to factor D deficiency1 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
Rienhoff syndrome1 test
Rosuvastatin response1 test
SHORT syndrome2 tests
STAT3-related early-onset multisystem autoimmune disease1 test
Sandhoff disease1 test
Seizures, benign familial infantile, 31 test
Selective serotonin reuptake inhibitor response2 tests
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1 test
Sertraline response2 tests
Severe combined immunodeficiency disease1 test
Severe combined immunodeficiency due to CARD11 deficiency1 test
Severe combined immunodeficiency due to CORO1A deficiency1 test
Severe combined immunodeficiency due to CTPS1 deficiency1 test
Severe combined immunodeficiency due to DNA-PKcs deficiency1 test
Severe combined immunodeficiency due to IKK2 deficiency1 test
Severe combined immunodeficiency due to LCK deficiency1 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-negative, due to adenosine deaminase deficiency2 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-positive1 test
Severe congenital neutropenia2 tests
Sex-linked hereditary disorder3 tests
Shprintzen-Goldberg syndrome2 tests
Shwachman syndrome1 test
Silver-Russell syndrome 12 tests
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 71 test
Simvastatin response1 test
Sitosterolemia1 test
Smith-Lemli-Opitz syndrome1 test
Solid tumor1 test
Southeast Asian ovalocytosis1 test
Spastic paraplegia1 test
Specific granule deficiency1 test
Specific granule deficiency 11 test
Spinal muscular atrophy3 tests
Spinocerebellar ataxia 71 test
Spinocerebellar ataxia type 11 test
Spinocerebellar ataxia type 21 test
Spinocerebellar ataxia type 61 test
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21 test
Statin causing adverse effect in therapeutic use1 test
Statin-induced myopathy1 test
Sterile multifocal osteomyelitis with periostitis and pustulosis1 test
Sterol carrier protein 2 deficiency1 test
Stormorken syndrome1 test
Surfactant metabolism dysfunction, pulmonary, 41 test
Susceptibility to localized juvenile periodontitis1 test
Susceptibility to respiratory infections associated with CD8alpha chain mutation1 test
Syndromic hereditary neuropathy1 test
Syndromic intellectual disability1 test
Systemic lupus erythematosus, susceptibility to1 test
Systemic lupus erythematosus, susceptibility to, 91 test
Systemic mast cell disease1 test
T-B+ severe combined immunodeficiency due to JAK3 deficiency1 test
T-cell immunodeficiency, congenital alopecia, and nail dystrophy1 test
TCR-alpha-beta-positive T-cell deficiency1 test
TNF receptor-associated periodic fever syndrome (TRAPS)1 test
Tacrolimus response1 test
Tafenoquine response1 test
Tamoxifen response1 test
Tay-Sachs disease1 test
Telangiectasia, hereditary hemorrhagic, type 11 test
Telangiectasia, hereditary hemorrhagic, type 21 test
Telangiectasia, hereditary hemorrhagic, type 51 test
Telomere syndrome1 test
Tetraploidy syndrome1 test
Thioguanine response1 test
Thiopurine metabolic disease1 test
Thiopurine methyltransferase deficiency1 test
Thiopurine response1 test
Thiopurines, poor metabolism of, 21 test
Thrombocytopenia, X-linked, intermittent2 tests
Thrombomodulin-related bleeding disorder1 test
Thrombophilia1 test
Thrombophilia due to protein C deficiency, autosomal dominant1 test
Thrombophilia due to protein C deficiency, autosomal recessive1 test
Thrombotic microangiopathy1 test
Thyroid gland carcinoma1 test
Timothy syndrome1 test
Tolbutamide response1 test
Trichohepatoenteric syndrome1 test
Tricyclic antidepressant 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
Turner syndrome4 tests
Twinning, monozygotic1 test
Tyrosinemia1 test
Tyrosinemia type I1 test
Uniparental disomy of maternal origin1 test
Uniparental disomy of paternal origin1 test
Upshaw-Schulman syndrome1 test
Variegate porphyria2 tests
Velocardiofacial syndrome1 test
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 2, dominant2 tests
Wilson disease1 test
Wiskott-Aldrich syndrome3 tests
Wiskott-Aldrich syndrome 22 tests
X-linked agammaglobulinemia3 tests
X-linked agammaglobulinemia with growth hormone deficiency1 test
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia1 test
X-linked lymphoproliferative disease due to SH2D1A deficiency1 test
X-linked lymphoproliferative syndrome3 tests
X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency1 test
X-linked severe combined immunodeficiency2 tests
X-linked severe congenital neutropenia2 tests
Xerocytosis1 test
Zellweger spectrum disorders1 test
delta Thalassemia3 tests
methadone response - Dosage1 test
von Willebrand disorder1 test
Support Center