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Athena Diagnostics Inc

General information

Athena Diagnostics Inc

200 Forest Street
2nd Floor
Marlborough
Massachusetts
United States - 01752
http://www.athenadiagnostics.com/
Organization ID: 1012

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 17228

Gene

GeneSubmissionsLast Updated
ABAT14Dec 30, 2020
ABCC887Sep 13, 2021
ABCD130Sep 13, 2021
ABHD124Sep 25, 2019
ACTA11Sep 25, 2019
ACTB4Sep 13, 2021
ACTG113Sep 13, 2021
ACTN422Dec 30, 2020
ADCY16Sep 25, 2019
ADGRG122Sep 13, 2021
ADGRV1120Sep 13, 2021
ADSL10Sep 13, 2021
AFG3L253Sep 13, 2021
AGRN28Sep 13, 2021
AHI11Sep 25, 2019
AIFM12Sep 25, 2019
AIRE21Sep 13, 2021
ALDH7A16Dec 30, 2020
ALG1317Sep 13, 2021
ALG94Sep 13, 2021
ALMS125Dec 30, 2020
ALPL15Sep 13, 2021
ALS245Sep 13, 2021
AMT6Dec 30, 2020
ANAPC152Sep 25, 2019
ANG6Sep 13, 2021
ANGPT21Aug 31, 2018
ANKH3Dec 30, 2020
ANKRD1154Sep 13, 2021
ANO1053Sep 13, 2021
ANO540Sep 13, 2021
ANOS16Dec 30, 2020
AP5Z164Sep 13, 2021
APOB1Aug 17, 2017
APP27Sep 13, 2021
APTX25Sep 13, 2021
AQP24Aug 31, 2018
ARFGEF1-DT4Dec 30, 2020
ARFGEF215Sep 13, 2021
ARHGEF93Sep 25, 2019
ARMS25Aug 31, 2018
ARSA8Sep 13, 2021
ARX4Sep 13, 2021
ASAH113Dec 30, 2020
ASPM83Sep 13, 2021
ASTN210Sep 13, 2021
ATL120Sep 13, 2021
ATM159Sep 13, 2021
ATP13A232Sep 13, 2021
ATP1A241Sep 13, 2021
ATP1A316Sep 13, 2021
ATP2A129Sep 13, 2021
ATP2A1-AS11Aug 31, 2018
ATP2A28Sep 25, 2019
ATP2B27Dec 30, 2020
ATP6AP24Sep 25, 2019
ATP6V0A211Dec 30, 2020
ATP6V1B15Dec 30, 2020
ATP6V1B1-AS11Aug 31, 2018
ATP6V1B21Sep 25, 2019
ATRIP10Sep 25, 2019
ATRIP-TREX110Sep 25, 2019
ATRX15Dec 30, 2020
AVPR212Dec 30, 2020
AXDND19Sep 13, 2021
B3GNT41Dec 30, 2020
B4GAT11Aug 31, 2018
BAG37Aug 31, 2018
BBS17Sep 25, 2019
BBS103Aug 17, 2017
BBS22Aug 31, 2018
BCKDK8Sep 13, 2021
BCS1L2Sep 25, 2019
BDP113Sep 13, 2021
BICD24Aug 31, 2018
BIN13Dec 30, 2020
BRAT139Dec 30, 2020
BSCL220Sep 13, 2021
BSND4Sep 13, 2021
C10orf1054Dec 30, 2020
C11orf6561Sep 13, 2021
C12orf434Sep 13, 2021
C17orf10710Sep 13, 2021
CABP21Sep 25, 2019
CACNA1A271Sep 13, 2021
CACNA1D10Dec 30, 2020
CACNA1H143Sep 13, 2021
CACNA1S67Sep 13, 2021
CACNA2D112Sep 25, 2019
CACNA2D1-AS12Aug 17, 2017
CACNA2D213Dec 30, 2020
CACNB437Sep 13, 2021
CAPN382Sep 13, 2021
CASD127Sep 13, 2021
CASK3Dec 30, 2020
CASR88Sep 13, 2021
CATIP-AS25Aug 31, 2018
CAV320Sep 13, 2021
CAVIN14Sep 13, 2021
CC2D2A2Aug 17, 2017
CCDC504Sep 25, 2019
CCDC7812Sep 13, 2021
CCDC88C18Sep 13, 2021
CCM215Sep 13, 2021
CCNF1Sep 25, 2019
CDC14A2Sep 25, 2019
CDH2337Sep 13, 2021
CDH23-AS11Sep 25, 2019
CDKL58Dec 30, 2020
CEACAM164Dec 30, 2020
CEMIP15Dec 30, 2020
CENPJ15Sep 13, 2021
CEP2903Dec 30, 2020
CHAT8Dec 30, 2020
CHD222Sep 13, 2021
CHD721Sep 13, 2021
CHKB4Aug 31, 2018
CHKB-CPT1B4Aug 31, 2018
CHMP2B11Sep 13, 2021
CHRNA15Sep 25, 2019
CHRNA28Dec 30, 2020
CHRNA425Sep 13, 2021
CHRNB12Sep 13, 2021
CHRNB214Dec 30, 2020
CHRND4Sep 25, 2019
CHRNE16Sep 13, 2021
CHSY113Dec 30, 2020
CIB22Sep 25, 2019
CISD21Sep 25, 2019
CIZ11Aug 31, 2018
CLCC11Sep 25, 2019
CLCN1133Sep 13, 2021
CLCNKA13Aug 31, 2018
CLCNKB37Dec 30, 2020
CLDN145Sep 25, 2019
CLDN14-AS15Sep 25, 2019
CLIC53Sep 25, 2019
CLN37Dec 30, 2020
CLN510Sep 25, 2019
CLN610Sep 13, 2021
CLN89Dec 30, 2020
CLPP4Sep 25, 2019
CLRN12Dec 30, 2020
CNTN16Dec 30, 2020
CNTNAP230Sep 13, 2021
COCH1Dec 30, 2020
COL11A19Dec 30, 2020
COL11A29Dec 30, 2020
COL18A132Aug 31, 2018
COL1A176Sep 13, 2021
COL1A242Sep 13, 2021
COL2A115Dec 30, 2020
COL4A161Sep 13, 2021
COL4A21Sep 13, 2021
COL4A363Sep 13, 2021
COL4A484Sep 13, 2021
COL4A579Sep 13, 2021
COL4A67Dec 30, 2020
COL6A120Dec 30, 2020
COL6A223Dec 30, 2020
COL6A351Sep 13, 2021
COL9A110Dec 30, 2020
COL9A215Dec 30, 2020
COL9A315Dec 30, 2020
COLQ6Sep 13, 2021
COQ8A85Sep 13, 2021
CPA68Dec 30, 2020
CPLANE11Aug 31, 2018
CPT213Dec 30, 2020
CRH4Sep 13, 2021
CRPPA12Sep 13, 2021
CRPPA-AS14Dec 30, 2020
CRYAB3Dec 30, 2020
CRYM1Sep 25, 2019
CSTB8Sep 13, 2021
CTSD9Sep 25, 2019
CTSF15Dec 30, 2020
CTXN2-AS18Dec 30, 2020
CUL4B7Sep 25, 2019
CYB561D27Dec 30, 2020
CYP11B145Sep 13, 2021
CYP17A13Aug 31, 2018
CYP21A239Sep 13, 2021
CYP27A116Dec 30, 2020
CYP7B113Sep 13, 2021
DAG124Sep 13, 2021
DCDC25Dec 30, 2020
DCTN132Sep 13, 2021
DCX2Sep 25, 2019
DEAF113Sep 13, 2021
DEPDC527Dec 30, 2020
DES29Sep 13, 2021
DGUOK1Aug 17, 2017
DGUOK-AS11Aug 17, 2017
DHCR78Sep 13, 2021
DIABLO1Dec 30, 2020
DIAPH15Dec 30, 2020
DIAPH37Dec 30, 2020
DLX51Dec 30, 2020
DM1-AS1Sep 25, 2019
DMAC2L3Sep 13, 2021
DMD209Sep 13, 2021
DNAJB611Sep 13, 2021
DNAJC53Sep 25, 2019
DNM17Sep 25, 2019
DNM249Sep 13, 2021
DNMT13Dec 30, 2020
DOCK718Dec 30, 2020
DOK713Sep 13, 2021
DPAGT13Dec 30, 2020
DPM21Dec 30, 2020
DPYD22Sep 13, 2021
DPYD-AS15Dec 30, 2020
DSPP11Dec 30, 2020
DYNC1H160Sep 13, 2021
DYRK1A6Sep 25, 2019
DYSF129Sep 13, 2021
EDN31Sep 25, 2019
EDNRB5Sep 13, 2021
EDNRB-AS14Sep 13, 2021
EEF1A29Dec 30, 2020
EEF296Sep 13, 2021
EFHC122Sep 25, 2019
EGILA6Sep 13, 2021
EGR211Sep 13, 2021
EIF2B33Dec 30, 2020
EIF2B45Aug 31, 2018
EIF2B53Aug 31, 2018
ELMOD36Sep 13, 2021
EMD5Sep 25, 2019
EMX24Sep 25, 2019
EMX2OS1Aug 17, 2017
EPM2A15Sep 13, 2021
EPM2A-DT5Sep 13, 2021
EPS86Sep 25, 2019
EPS8L25Dec 30, 2020
ERCC26Sep 25, 2019
ERCC33Sep 25, 2019
ESPN3Dec 30, 2020
ESR15Sep 13, 2021
ESR26Dec 30, 2020
ESRRB5Dec 30, 2020
EYA13Sep 25, 2019
EYA41Sep 25, 2019
FA2H13Sep 13, 2021
FANCI8Dec 30, 2020
FBXL35Sep 25, 2019
FGD17Sep 25, 2019
FGD428Sep 13, 2021
FGF1419Sep 13, 2021
FGF233Sep 25, 2019
FGF32Sep 25, 2019
FGF81Aug 31, 2018
FGFR110Sep 13, 2021
FGFR26Dec 30, 2020
FGFR321Sep 13, 2021
FHL18Sep 13, 2021
FIG446Sep 13, 2021
FKRP29Sep 13, 2021
FKTN17Sep 13, 2021
FLNA29Dec 30, 2020
FLNC42Sep 13, 2021
FLNC-AS118Sep 13, 2021
FLVCR139Sep 13, 2021
FOLR12Sep 25, 2019
FOXG19Dec 30, 2020
FOXI14Sep 25, 2019
FTCD4Aug 31, 2018
FUS19Sep 13, 2021
FXN32Sep 13, 2021
GABRA16Sep 13, 2021
GABRB26Sep 25, 2019
GABRB38Sep 25, 2019
GABRD13Sep 25, 2019
GABRG214Sep 13, 2021
GAMT7Sep 13, 2021
GARS135Sep 13, 2021
GATA32Dec 30, 2020
GATAD12Sep 25, 2019
GATM4Dec 30, 2020
GCH118Sep 13, 2021
GCK202Sep 13, 2021
GDAP112Sep 13, 2021
GFAP27Sep 13, 2021
GFPT14Dec 30, 2020
GH-LCR133Sep 13, 2021
GH15Sep 25, 2019
GHR5Dec 30, 2020
GIPC32Sep 25, 2019
GJB171Sep 13, 2021
GJB273Sep 13, 2021
GJB38Sep 25, 2019
GJC22Sep 13, 2021
GLDC34Dec 30, 2020
GLUD110Sep 25, 2019
GML10Dec 30, 2020
GNAO18Aug 31, 2018
GNAO1-AS11Aug 31, 2018
GNE7Sep 13, 2021
GNG31Aug 17, 2017
GNRH11Aug 31, 2018
GNRHR1Aug 17, 2017
GOSR26Dec 30, 2020
GPC35Dec 30, 2020
GPSM29Dec 30, 2020
GRHL24Sep 25, 2019
GRIA36Dec 30, 2020
GRIN110Sep 25, 2019
GRIN2A17Sep 13, 2021
GRIN2B20Sep 13, 2021
GRM181Sep 13, 2021
GRN54Sep 13, 2021
GRXCR12Sep 25, 2019
GRXCR23Sep 25, 2019
GSDME2Sep 25, 2019
GTF3C2-AS23Aug 31, 2018
HCN19Sep 13, 2021
HCN429Dec 30, 2020
HGF2Dec 30, 2020
HNF1A120Sep 13, 2021
HNF1B37Sep 13, 2021
HNF4A73Sep 13, 2021
HNRNPU7Sep 13, 2021
HNRNPUL2-BSCL220Sep 13, 2021
HOMER27Dec 30, 2020
HOXB13Sep 25, 2019
HSD11B29Sep 13, 2021
HSD17B48Sep 25, 2019
HSD3B25Sep 13, 2021
HSPB126Sep 13, 2021
HSPB34Aug 31, 2018
HSPB811Sep 13, 2021
HSPD111Sep 13, 2021
HSPG2259Sep 13, 2021
HTRA120Sep 13, 2021
IGHMBP222Sep 13, 2021
ILDR15Sep 25, 2019
INF230Sep 13, 2021
INS8Dec 30, 2020
INS-IGF25Aug 31, 2018
IQSEC27Dec 30, 2020
ITGA79Sep 13, 2021
ITGBL14Sep 13, 2021
ITPR1169Sep 13, 2021
KAAG11Dec 30, 2020
KANSL126Dec 30, 2020
KARS14Sep 25, 2019
KBTBD136Sep 13, 2021
KCNA129Sep 13, 2021
KCNA25Sep 25, 2019
KCNB15Aug 31, 2018
KCNC17Sep 13, 2021
KCNC341Sep 13, 2021
KCND351Sep 13, 2021
KCNE11Sep 25, 2019
KCNH227Sep 13, 2021
KCNJ17Dec 30, 2020
KCNJ108Dec 30, 2020
KCNJ1128Sep 13, 2021
KCNJ24Sep 25, 2019
KCNMA121Sep 13, 2021
KCNMA1-AS16Sep 13, 2021
KCNQ15Sep 25, 2019
KCNQ1-AS11Sep 25, 2019
KCNQ219Dec 30, 2020
KCNQ312Dec 30, 2020
KCNQ45Sep 25, 2019
KCNT140Sep 13, 2021
KCTD77Dec 30, 2020
KDM5C3Dec 30, 2020
KIF1A61Sep 13, 2021
KIF5A21Dec 30, 2020
KIFBP10Dec 30, 2020
KIRREL23Sep 13, 2021
KISS1R5Sep 13, 2021
KLHL4011Sep 13, 2021
KLHL91Sep 13, 2021
KMT2D57Sep 13, 2021
KRIT110Sep 13, 2021
L1CAM16Sep 13, 2021
L2HGDH15Sep 13, 2021
LAMA284Sep 13, 2021
LAMB216Sep 13, 2021
LARGE117Sep 13, 2021
LARS211Sep 13, 2021
LARS2-AS15Sep 13, 2021
LBR14Dec 30, 2020
LDB314Sep 13, 2021
LDLR12Aug 31, 2018
LDLRAD219Sep 13, 2021
LEPR14Sep 13, 2021
LGI14Dec 30, 2020
LHCGR8Sep 13, 2021
LIAS5Sep 25, 2019
LITAF7Sep 13, 2021
LMNA44Sep 13, 2021
LMNB212Sep 13, 2021
LOC1001305873Sep 13, 2021
LOC1005060711Dec 30, 2020
LOC10192705518Sep 13, 2021
LOC10192800820Sep 13, 2021
LOC10272405839Sep 13, 2021
LOC10537156612Sep 13, 2021
LOC10650171213Aug 31, 2018
LOC10650171333Dec 30, 2020
LOC10678080037Sep 13, 2021
LOC10679983336Sep 13, 2021
LOC1070753171Sep 25, 2019
LOC1073033402Dec 30, 2020
LOC10765244516Sep 13, 2021
LOC1079822342Jul 17, 2017
LOC1089031483Aug 31, 2018
LOC1096106311Sep 13, 2021
LOC1101212696Sep 13, 2021
LOC1101214864Dec 30, 2020
LOC1106739722Aug 17, 2017
LOC1125336712Aug 31, 2018
LOC1220948441Sep 25, 2019
LOC1221522961Dec 30, 2020
LOC1238640653Dec 30, 2020
LOC1239562101Aug 31, 2018
LOC1239562576Dec 30, 2020
LOXHD123Dec 30, 2020
LRP58Dec 30, 2020
LRRC37A26Dec 30, 2020
LRRC511Sep 25, 2019
LRRK227Sep 13, 2021
LRTOMT4Sep 25, 2019
MAF5Aug 31, 2018
MAGI217Dec 30, 2020
MAGI2-AS32Sep 25, 2019
MANBA4Dec 30, 2020
MAP4K51Sep 13, 2021
MAPT24Sep 13, 2021
MARVELD24Dec 30, 2020
MATR32Aug 17, 2017
MBD514Dec 30, 2020
MC4R13Sep 13, 2021
MCM27Dec 30, 2020
MCOLN13Sep 13, 2021
MCPH125Sep 13, 2021
MCPH1-AS18Sep 13, 2021
ME23Aug 17, 2017
MECP220Dec 30, 2020
MEGF109Sep 13, 2021
MEN111Dec 30, 2020
MESD1Sep 25, 2019
MET6Sep 25, 2019
MFF-DT62Sep 13, 2021
MFN264Sep 13, 2021
MFSD84Sep 13, 2021
MHRT5Aug 31, 2018
MIF4GD-DT2Aug 31, 2018
MIR3936HG2Dec 30, 2020
MIR60842Aug 31, 2018
MIR6511B12Aug 31, 2018
MIR67661Dec 30, 2020
MIR962Sep 25, 2019
MITF6Dec 30, 2020
MPV171Sep 13, 2021
MPZ51Sep 13, 2021
MRE1150Sep 13, 2021
MSRB31Dec 30, 2020
MT-CO126Dec 30, 2020
MT-CO211Dec 30, 2020
MT-ND119Sep 13, 2021
MT-RNR112Dec 30, 2020
MT-TI1Sep 25, 2019
MT-TK1Sep 25, 2019
MT-TQ2Dec 30, 2020
MT-TS11Sep 25, 2019
MT-TS22Dec 30, 2020
MTM12Sep 25, 2019
MTMR216Sep 13, 2021
MTPAP32Sep 13, 2021
MUSK8Dec 30, 2020
MYBPC39Dec 30, 2020
MYH111Aug 17, 2017
MYH1424Sep 13, 2021
MYH26Sep 13, 2021
MYH719Sep 13, 2021
MYH913Sep 13, 2021
MYHAS6Sep 13, 2021
MYO15A27Sep 13, 2021
MYO3A10Dec 30, 2020
MYO69Sep 25, 2019
MYO7A29Sep 13, 2021
MYOT15Sep 13, 2021
NARS25Dec 30, 2020
NDE15Sep 25, 2019
NDP1Sep 25, 2019
NDP-AS11Sep 25, 2019
NDRG118Sep 13, 2021
NDUFA12Dec 30, 2020
NEB106Sep 13, 2021
NEFL20Sep 13, 2021
NEXMIF10Sep 25, 2019
NF163Sep 13, 2021
NF211Sep 13, 2021
NHLRC17Dec 30, 2020
NICN11Sep 25, 2019
NIPA17Sep 13, 2021
NIPBL20Sep 13, 2021
NLRP311Sep 13, 2021
NOC3L2Aug 17, 2017
NOTCH3374Sep 13, 2021
NPHS140Sep 13, 2021
NPHS226Sep 13, 2021
NR0B18Dec 30, 2020
NR2F12Aug 31, 2018
NRXN119Dec 30, 2020
NTRK118Sep 13, 2021
OFD18Sep 13, 2021
OPA175Sep 13, 2021
OPA1-AS12Aug 31, 2018
OPHN19Dec 30, 2020
OPTN13Dec 30, 2020
OSBPL25Sep 13, 2021
OTOA3Dec 30, 2020
OTOF32Dec 30, 2020
OTOG39Dec 30, 2020
OTOGL11Dec 30, 2020
OTOP21Sep 25, 2019
OXTR14Sep 13, 2021
P2RX24Dec 30, 2020
PACRG1Sep 25, 2019
PAFAH1B11Aug 31, 2018
PAK33Sep 25, 2019
PANK29Dec 30, 2020
PARK77Sep 13, 2021
PAX33Dec 30, 2020
PCDH1523Dec 30, 2020
PCDH1921Sep 13, 2021
PDCD101Aug 17, 2017
PDHA12Sep 13, 2021
PDX131Sep 13, 2021
PDYN23Sep 13, 2021
PDYN-AS123Sep 13, 2021
PDZD713Dec 30, 2020
PEX18Dec 30, 2020
PEX69Dec 30, 2020
PEX74Sep 25, 2019
PFN11Sep 25, 2019
PHEX26Dec 30, 2020
PHEX-AS11Aug 31, 2018
PHGDH7Dec 30, 2020
PI4KA1Aug 31, 2018
PIGA3Sep 25, 2019
PIGN16Sep 25, 2019
PIGO14Dec 30, 2020
PIGV2Sep 13, 2021
PINK117Sep 13, 2021
PINK1-AS10Dec 30, 2020
PJVK1Sep 25, 2019
PKD1477Sep 13, 2021
PKD1-AS148Sep 13, 2021
PKD254Sep 13, 2021
PKD2L2-DT15Sep 13, 2021
PLA2G611Sep 13, 2021
PLCB117Sep 25, 2019
PLCE123Dec 30, 2020
PLCE1-AS11Sep 25, 2019
PLD31Jul 17, 2017
PLEC336Sep 13, 2021
PLP15Dec 30, 2020
PLUT9Sep 13, 2021
PMP2227Sep 13, 2021
PNKD5Aug 31, 2018
PNKP13Sep 25, 2019
PNPLA634Sep 13, 2021
PNPO7Dec 30, 2020
PNPT13Dec 30, 2020
POLG149Sep 13, 2021
POLR1C3Dec 30, 2020
POLR1D5Sep 25, 2019
POLR2F3Sep 25, 2019
POMGNT123Sep 13, 2021
POMGNT24Dec 30, 2020
POMT153Sep 13, 2021
POMT231Sep 13, 2021
POU1F11Aug 31, 2018
POU4F33Sep 25, 2019
PPT14Dec 30, 2020
PQBP12Aug 31, 2018
PRICKLE117Dec 30, 2020
PRICKLE216Dec 30, 2020
PRIMA15Sep 25, 2019
PRKCG63Sep 13, 2021
PRKN17Sep 13, 2021
PROK21Aug 17, 2017
PROKR25Dec 30, 2020
PROP15Aug 31, 2018
PRPS11Dec 30, 2020
PRRT213Sep 13, 2021
PRX63Sep 13, 2021
PSEN139Sep 13, 2021
PSEN225Sep 13, 2021
PTCHD1-AS6Sep 25, 2019
PTEN1Aug 31, 2018
PTPN114Dec 30, 2020
PTPRQ19Dec 30, 2020
PURA1Sep 25, 2019
QARS18Sep 13, 2021
RAB33A2Sep 25, 2019
RAB39B1Dec 30, 2020
RAB3GAP114Sep 13, 2021
RAB7A6Dec 30, 2020
RAB9B5Dec 30, 2020
RAI127Sep 13, 2021
RAPSN8Sep 13, 2021
RBFOX110Sep 13, 2021
RDX3Dec 30, 2020
REEP111Sep 13, 2021
RELN64Sep 13, 2021
RET21Sep 13, 2021
RIF121Sep 13, 2021
RIPOR221Sep 13, 2021
RNASE46Sep 13, 2021
RNASEH2A5Sep 25, 2019
RNASEH2B7Sep 25, 2019
RNASEH2C2Sep 13, 2021
RNF173Sep 13, 2021
RNR11Sep 25, 2019
ROGDI12Sep 25, 2019
ROR13Sep 25, 2019
RRM2B2Sep 25, 2019
RS13Dec 30, 2020
RTN223Sep 13, 2021
RXYLT15Sep 13, 2021
RXYLT1-AS11Aug 31, 2018
RYR161Sep 13, 2021
S1PR23Dec 30, 2020
SACS295Sep 13, 2021
SALL18Dec 30, 2020
SAMHD12Aug 31, 2018
SBF255Sep 13, 2021
SBF2-AS114Sep 13, 2021
SCARB29Dec 30, 2020
SCN1A85Sep 13, 2021
SCN1A-AS132Dec 30, 2020
SCN1B9Sep 13, 2021
SCN2A37Sep 13, 2021
SCN3A19Dec 30, 2020
SCN4A185Sep 13, 2021
SCN5A46Sep 13, 2021
SCN8A18Dec 30, 2020
SCN9A39Dec 30, 2020
SCNN1B25Sep 13, 2021
SCNN1G14Sep 13, 2021
SCO23Sep 25, 2019
SDHB4Aug 31, 2018
SELENON15Dec 30, 2020
SEMA3E5Sep 13, 2021
SEPTIN99Dec 30, 2020
SERPINB64Dec 30, 2020
SERPINI14Sep 25, 2019
SETBP113Sep 13, 2021
SETD218Dec 30, 2020
SETX224Sep 13, 2021
SGCA19Sep 13, 2021
SGCB12Dec 30, 2020
SGCD12Sep 13, 2021
SGCE29Sep 13, 2021
SGCG19Sep 13, 2021
SH3TC258Sep 13, 2021
SHANK21Aug 31, 2018
SHANK31Aug 31, 2018
SHH5Sep 25, 2019
SHLD21Aug 31, 2018
SHOX54Sep 13, 2021
SIGMAR16Sep 13, 2021
SIK117Dec 30, 2020
SIL145Sep 13, 2021
SIX11Sep 25, 2019
SIX38Sep 25, 2019
SIX54Dec 30, 2020
SLC12A123Sep 13, 2021
SLC12A361Sep 13, 2021
SLC13A54Sep 25, 2019
SLC17A83Dec 30, 2020
SLC19A112Aug 31, 2018
SLC19A22Sep 25, 2019
SLC19A313Dec 30, 2020
SLC1A345Sep 13, 2021
SLC22A43Dec 30, 2020
SLC25A195Sep 25, 2019
SLC25A228Dec 30, 2020
SLC25A42Dec 30, 2020
SLC26A410Dec 30, 2020
SLC26A4-AS11Sep 25, 2019
SLC26A53Dec 30, 2020
SLC26A5-AS18Sep 13, 2021
SLC2A117Sep 13, 2021
SLC33A110Sep 13, 2021
SLC35A25Dec 30, 2020
SLC4A109Sep 13, 2021
SLC4A1111Dec 30, 2020
SLC6A116Sep 13, 2021
SLC6A1-AS13Sep 25, 2019
SLC6A815Sep 25, 2019
SLC9A69Dec 30, 2020
SLITRK66Sep 25, 2019
SMC1A6Dec 30, 2020
SMC310Sep 13, 2021
SMCHD125Sep 13, 2021
SMN122Sep 13, 2021
SMS2Dec 30, 2020
SNAI21Sep 25, 2019
SNAP253Aug 31, 2018
SNAP296Aug 31, 2018
SNHG149Sep 13, 2021
SOD125Sep 13, 2021
SOS12Aug 17, 2017
SOX103Sep 25, 2019
SPART11Sep 13, 2021
SPAST93Sep 13, 2021
SPATA519Dec 30, 2020
SPG1168Sep 13, 2021
SPG215Sep 13, 2021
SPG747Sep 13, 2021
SPTAN134Dec 30, 2020
SPTBN2218Sep 13, 2021
SPTLC13Sep 25, 2019
SPTLC22Sep 25, 2019
SQSTM127Sep 13, 2021
SRPX25Sep 25, 2019
SSUH26Sep 13, 2021
ST3GAL35Sep 25, 2019
ST3GAL57Sep 13, 2021
STAR6Sep 25, 2019
STIL13Dec 30, 2020
STON1-GTF2A1L8Sep 13, 2021
STRC11Dec 30, 2020
STX1B6Sep 25, 2019
STXBP112Sep 13, 2021
SUCLA210Dec 30, 2020
SYN110Dec 30, 2020
SYNE1709Sep 13, 2021
SYNE1-AS19Dec 30, 2020
SYNE2145Sep 13, 2021
SYNE43Dec 30, 2020
SYNGAP18Sep 13, 2021
SYNGAP1-AS17Sep 13, 2021
SYNJ123Sep 13, 2021
SYP1Aug 31, 2018
SYT1430Sep 13, 2021
SZT244Sep 13, 2021
TACR33Sep 13, 2021
TAPBPL6Sep 13, 2021
TARDBP14Sep 13, 2021
TARID1Sep 25, 2019
TBC1D2418Dec 30, 2020
TBCEL-TECTA13Sep 13, 2021
TBL1XR18Dec 30, 2020
TBL1XR1-AS12Aug 31, 2018
TBX116Sep 13, 2021
TCAP9Sep 13, 2021
TCF411Sep 13, 2021
TCOF115Sep 13, 2021
TDP155Sep 13, 2021
TECTA13Sep 13, 2021
TFAP2A2Sep 25, 2019
TGM6120Sep 13, 2021
TH21Dec 30, 2020
THAP17Dec 30, 2020
TIA13Aug 17, 2017
TJP212Sep 13, 2021
TK22Dec 30, 2020
TMC110Dec 30, 2020
TMEM132E8Sep 13, 2021
TMEM2161Aug 17, 2017
TMEM438Sep 13, 2021
TMEM672Aug 17, 2017
TMPRSS34Dec 30, 2020
TNC21Sep 13, 2021
TNNT11Sep 25, 2019
TNXB5Sep 13, 2021
TOMT2Sep 25, 2019
TPM22Dec 30, 2020
TPM32Sep 25, 2019
TPP122Dec 30, 2020
TPRN3Sep 25, 2019
TRAPPC1131Sep 13, 2021
TRAPPC2L1Aug 31, 2018
TREX110Sep 25, 2019
TRIM3210Sep 13, 2021
TRIOBP11Dec 30, 2020
TRPC618Dec 30, 2020
TRPV458Sep 13, 2021
TSC166Sep 13, 2021
TSC2200Sep 13, 2021
TSEN5420Dec 30, 2020
TSPAN122Sep 13, 2021
TSPEAR8Sep 25, 2019
TSPEAR-AS11Sep 25, 2019
TSR23Sep 25, 2019
TTBK275Sep 13, 2021
TTN1096Sep 13, 2021
TTN-AS1604Sep 13, 2021
TTPA21Sep 13, 2021
TTR27Sep 13, 2021
TUBA1A9Sep 13, 2021
TUBA87Sep 25, 2019
TUBB2B5Sep 25, 2019
TUBB64Sep 13, 2021
TWNK10Sep 13, 2021
TYMP5Sep 25, 2019
UBA13Sep 25, 2019
UBE3A9Sep 13, 2021
UBQLN29Dec 30, 2020
UMOD10Sep 13, 2021
USH1C5Sep 25, 2019
USH1G4Sep 25, 2019
USH2A47Sep 13, 2021
USH2A-AS13Sep 25, 2019
USH2A-AS22Sep 13, 2021
VAMP16Sep 13, 2021
VAPB7Dec 30, 2020
VCP18Sep 13, 2021
VHL5Dec 30, 2020
VPS13A52Sep 13, 2021
VPS13B54Sep 13, 2021
VRK11Aug 31, 2018
WASHC522Sep 13, 2021
WDR454Sep 25, 2019
WDR6234Sep 25, 2019
WFS117Dec 30, 2020
WHRN11Sep 13, 2021
WNK122Sep 13, 2021
WT113Sep 13, 2021
WWOX24Sep 25, 2019
YARS112Sep 13, 2021
ZDHHC245Sep 25, 2019
ZEB210Dec 30, 2020
ZFYVE2667Sep 13, 2021
ZRANB32Aug 31, 2018

Condition

NameSubmissionsLast Updated
Adrenoleukodystrophy1Jul 17, 2017
Alzheimer disease 42Jul 17, 2017
Amyotrophic lateral sclerosis type 113Jul 17, 2017
Amyotrophic lateral sclerosis type 42Jul 17, 2017
Amyotrophic lateral sclerosis type 62Jul 17, 2017
Ateleiotic dwarfism2Jul 17, 2017
Autosomal dominant Alport syndrome8Jul 17, 2017
Autosomal dominant isolated somatotropin deficiency2Jul 17, 2017
Autosomal dominant medullary cystic kidney disease with hyperuricemia2Jul 17, 2017
Autosomal dominant nocturnal frontal lobe epilepsy 13Jul 17, 2017
Autosomal dominant nonsyndromic hearing loss 3A1Jul 17, 2017
Autosomal dominant optic atrophy classic form2Jul 17, 2017
Autosomal recessive Alport syndrome12Jul 17, 2017
Autosomal recessive distal spinal muscular atrophy 14Jul 17, 2017
Autosomal recessive early-onset Parkinson disease 61Jul 17, 2017
Autosomal recessive limb-girdle muscular dystrophy type 2A15Jul 17, 2017
Autosomal recessive limb-girdle muscular dystrophy type 2B9Jul 17, 2017
Autosomal recessive limb-girdle muscular dystrophy type 2D1Oct 6, 2015
Autosomal recessive limb-girdle muscular dystrophy type 2E1Oct 6, 2015
Autosomal recessive limb-girdle muscular dystrophy type 2F1Jul 17, 2017
Autosomal recessive limb-girdle muscular dystrophy type 2I4Jul 17, 2017
Autosomal recessive limb-girdle muscular dystrophy type 2K6Jul 17, 2017
Autosomal recessive limb-girdle muscular dystrophy type 2L4Oct 6, 2015
Autosomal recessive limb-girdle muscular dystrophy type 2M1Jul 17, 2017
Autosomal recessive nonsyndromic hearing loss 1A1Jul 17, 2017
Bardet-Biedl syndrome 15Jul 17, 2017
Bardet-Biedl syndrome 101Jul 17, 2017
Bardet-Biedl syndrome 21Jul 17, 2017
Bartter disease type 4a1Jul 17, 2017
Becker muscular dystrophy7Jul 17, 2017
Benign scapuloperoneal muscular dystrophy with cardiomyopathy4Oct 6, 2015
Bethlem myopathy 121Jul 17, 2017
Brain small vessel disease with hemorrhage10Jul 17, 2017
CARASIL syndrome4Jul 17, 2017
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 12Jul 17, 2017
Charcot-Marie-Tooth disease X-linked dominant 15Oct 6, 2015
Charcot-Marie-Tooth disease axonal type 2C2Oct 6, 2015
Charcot-Marie-Tooth disease axonal type 2F2Oct 6, 2015
Charcot-Marie-Tooth disease axonal type 2K1Jul 17, 2017
Charcot-Marie-Tooth disease type 1B7Jul 17, 2017
Charcot-Marie-Tooth disease type 1C1Jul 17, 2017
Charcot-Marie-Tooth disease type 2A25Oct 6, 2015
Charcot-Marie-Tooth disease type 2B1Jul 17, 2017
Charcot-Marie-Tooth disease type 2B11Oct 6, 2015
Charcot-Marie-Tooth disease type 2D2Jul 17, 2017
Charcot-Marie-Tooth disease type 2I1Jul 17, 2017
Charcot-Marie-Tooth disease type 2J1Jul 17, 2017
Charcot-Marie-Tooth disease type 4A2Jul 17, 2017
Charcot-Marie-Tooth disease type 4B15Jul 17, 2017
Charcot-Marie-Tooth disease type 4C2Oct 6, 2015
Charcot-Marie-Tooth disease type 4F7Jul 17, 2017
Charcot-Marie-Tooth disease type 4J4Jul 17, 2017
Charcot-Marie-Tooth disease, type IA3Oct 6, 2015
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1Jul 17, 2017
Cohen syndrome2Jul 17, 2017
Congenital myasthenic syndrome 1614Jul 17, 2017
Congenital myotonia, autosomal dominant form1Jul 17, 2017
Congenital myotonia, autosomal recessive form1Jul 17, 2017
Cortical dysplasia-focal epilepsy syndrome7Jul 17, 2017
Developmental and epileptic encephalopathy, 12Jul 17, 2017
Diabetes insipidus, nephrogenic, X-linked1Jul 17, 2017
Dilated cardiomyopathy 1A2Oct 6, 2015
Distal myopathy with anterior tibial onset1Jul 17, 2017
Distal myopathy, Tateyama type1Jul 17, 2017
Drash syndrome3Jul 17, 2017
Duchenne muscular dystrophy70Jul 17, 2017
Encephalopathy due to GLUT1 deficiency2Jul 17, 2017
Episodic ataxia type 24Jul 17, 2017
Familial febrile seizures 82Jul 17, 2017
Familial hyperkalemic periodic paralysis14Jul 17, 2017
Familial hypokalemia-hypomagnesemia10Jul 17, 2017
Familial juvenile hyperuricemic nephropathy type 12Jul 17, 2017
Familial partial lipodystrophy, Dunnigan type1Oct 6, 2015
Finnish congenital nephrotic syndrome4Jul 17, 2017
Focal segmental glomerulosclerosis 14Jul 17, 2017
Focal segmental glomerulosclerosis 23Jul 17, 2017
Focal segmental glomerulosclerosis 52Jul 17, 2017
Frasier syndrome3Jul 17, 2017
Generalized epilepsy with febrile seizures plus, type 23Jul 17, 2017
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions9Jul 17, 2017
Hereditary spastic paraplegia 115Jul 17, 2017
Hereditary spastic paraplegia 311Jul 17, 2017
Hereditary spastic paraplegia 3A2Jul 17, 2017
Hereditary spastic paraplegia 73Jul 17, 2017
Hereditary spastic paraplegia 83Jul 17, 2017
Hyperinsulinemic hypoglycemia, familial, 13Jul 17, 2017
Hyperinsulinemic hypoglycemia, familial, 25Jul 17, 2017
Hyperinsulinism-hyperammonemia syndrome2Jul 17, 2017
Hypogonadotropic hypogonadism 3 with or without anosmia3Jul 17, 2017
Hypokalemic periodic paralysis, type 17Jul 17, 2017
Hypokalemic periodic paralysis, type 214Jul 17, 2017
Intellectual disability, X-linked, with or without seizures, arx-related2Jul 17, 2017
Isolated growth hormone deficiency type IB2Jul 17, 2017
Juvenile myoclonic epilepsy7Jul 17, 2017
Lafora disease2Jul 17, 2017
Laron-type isolated somatotropin defect3Jul 17, 2017
Malignant hyperthermia, susceptibility to, 57Jul 17, 2017
Merosin deficient congenital muscular dystrophy10Jul 17, 2017
Metachromatic leukodystrophy3Jul 17, 2017
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations10Jul 17, 2017
Migraine, familial hemiplegic, 14Jul 17, 2017
Migraine, familial hemiplegic, 21Jul 17, 2017
Migraine, familial hemiplegic, 33Jul 17, 2017
Miyoshi muscular dystrophy 11Jul 17, 2017
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 41Jul 17, 2017
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A16Jul 17, 2017
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A52Jul 17, 2017
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B16Jul 17, 2017
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B41Jul 17, 2017
Muscular dystrophy-dystroglycanopathy type B52Jul 17, 2017
Myoclonic dystonia 112Jul 17, 2017
Myofibrillar myopathy 32Jul 17, 2017
Myofibrillar myopathy 64Jul 17, 2017
Nephrogenic syndrome of inappropriate antidiuresis1Jul 17, 2017
Nephrotic syndrome, type 22Jul 17, 2017
Nephrotic syndrome, type 43Jul 17, 2017
Neuronopathy, distal hereditary motor, type 5A2Jul 17, 2017
Neuropathy, hereditary sensory and autonomic, type 2A12Jul 17, 2017
Neuropathy, hereditary sensory, type 1D2Jul 17, 2017
Obesity due to leptin receptor gene deficiency1Jul 17, 2017
Paramyotonia congenita of Von Eulenburg14Jul 17, 2017
Paroxysmal nonkinesigenic dyskinesia 13Jul 17, 2017
Polycystic kidney disease, adult type24Jul 17, 2017
Potassium-aggravated myotonia14Jul 17, 2017
Rett syndrome4Oct 6, 2015
Rippling muscle disease 21Jul 17, 2017
Seizures, benign familial neonatal, 13Jul 17, 2017
Severe autosomal recessive muscular dystrophy of childhood - North African type1Oct 6, 2015
Severe myoclonic epilepsy in infancy28Jul 17, 2017
Short stature due to growth hormone qualitative anomaly2Jul 17, 2017
Smith-Lemli-Opitz syndrome5Jul 17, 2017
Smith-Magenis syndrome6Jul 17, 2017
Spinocerebellar ataxia type 55Jul 17, 2017
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 22Jul 17, 2017
Tuberous sclerosis 125Jul 17, 2017
Tuberous sclerosis 267Jul 17, 2017
Ullrich congenital muscular dystrophy 121Jul 17, 2017
Wilms tumor 13Jul 17, 2017
X-linked myopathy with postural muscle atrophy1Jul 17, 2017
X-linked scapuloperoneal muscular dystrophy1Jul 17, 2017
not provided11737Sep 13, 2021
not specified4907Sep 13, 2021

Testing in GTR

Disease nameNumber of tests
3 beta-Hydroxysteroid dehydrogenase deficiency1 test
ABCD syndrome1 test
ALG9 congenital disorder of glycosylation4 tests
Aarskog syndrome2 tests
Abortive cerebellar ataxia1 test
Achondroplasia3 tests
Acrocephalosyndactyly type I1 test
Actin accumulation myopathy1 test
Action myoclonus-renal failure syndrome2 tests
Adenylosuccinate lyase deficiency5 tests
Adrenoleukodystrophy3 tests
Adult-onset proximal spinal muscular atrophy, autosomal dominant1 test
Aicardi-Goutieres syndrome 12 tests
Aicardi-Goutieres syndrome 22 tests
Aicardi-Goutieres syndrome 32 tests
Aicardi-Goutieres syndrome 42 tests
Aicardi-Goutieres syndrome 52 tests
Alexander disease4 tests
Alstrom syndrome1 test
Alternating hemiplegia of childhood 22 tests
Alzheimer disease2 tests
Alzheimer disease 21 test
Alzheimer disease 32 tests
Alzheimer disease 42 tests
Amelocerebrohypohidrotic syndrome2 tests
Aminoglycoside-induced deafness1 test
Amyloidogenic transthyretin amyloidosis2 tests
Amyotrophic lateral sclerosis type 13 tests
Amyotrophic lateral sclerosis type 102 tests
Amyotrophic lateral sclerosis type 122 tests
Amyotrophic lateral sclerosis type 152 tests
Amyotrophic lateral sclerosis type 162 tests
Amyotrophic lateral sclerosis type 182 tests
Amyotrophic lateral sclerosis type 2, juvenile6 tests
Amyotrophic lateral sclerosis type 211 test
Amyotrophic lateral sclerosis type 45 tests
Amyotrophic lateral sclerosis type 62 tests
Amyotrophic lateral sclerosis type 82 tests
Amyotrophic lateral sclerosis type 92 tests
Amyotrophic neuralgia1 test
Andersen Tawil syndrome1 test
Anemia, nonspherocytic hemolytic, due to G6PD deficiency1 test
Angelman syndrome2 tests
Aniridia 12 tests
Apparent mineralocorticoid excess3 tests
Arginine:glycine amidinotransferase deficiency3 tests
Arts syndrome1 test
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia4 tests
Ataxia-hypogonadism-choroidal dystrophy syndrome3 tests
Ataxia-telangiectasia syndrome4 tests
Ataxia-telangiectasia-like disorder 13 tests
Ateleiotic dwarfism2 tests
Atrophia bulborum hereditaria1 test
Autism, susceptibility to, 171 test
Autosomal dominant Alport syndrome3 tests
Autosomal dominant Parkinson disease 13 tests
Autosomal dominant Parkinson disease 43 tests
Autosomal dominant Parkinson disease 83 tests
Autosomal dominant auditory neuropathy 11 test
Autosomal dominant cerebellar ataxia, deafness and narcolepsy1 test
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1 test
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures1 test
Autosomal dominant deafness - onychodystrophy syndrome1 test
Autosomal dominant hypocalcemia 11 test
Autosomal dominant hypophosphatemic rickets2 tests
Autosomal dominant isolated somatotropin deficiency2 tests
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome1 test
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)2 tests
Autosomal dominant medullary cystic kidney disease with hyperuricemia1 test
Autosomal dominant nocturnal frontal lobe epilepsy 12 tests
Autosomal dominant nocturnal frontal lobe epilepsy 32 tests
Autosomal dominant nocturnal frontal lobe epilepsy 42 tests
Autosomal dominant nonsyndromic hearing loss 11 test
Autosomal dominant nonsyndromic hearing loss 101 test
Autosomal dominant nonsyndromic hearing loss 111 test
Autosomal dominant nonsyndromic hearing loss 121 test
Autosomal dominant nonsyndromic hearing loss 131 test
Autosomal dominant nonsyndromic hearing loss 151 test
Autosomal dominant nonsyndromic hearing loss 171 test
Autosomal dominant nonsyndromic hearing loss 201 test
Autosomal dominant nonsyndromic hearing loss 221 test
Autosomal dominant nonsyndromic hearing loss 231 test
Autosomal dominant nonsyndromic hearing loss 251 test
Autosomal dominant nonsyndromic hearing loss 281 test
Autosomal dominant nonsyndromic hearing loss 2A1 test
Autosomal dominant nonsyndromic hearing loss 2B1 test
Autosomal dominant nonsyndromic hearing loss 361 test
Autosomal dominant nonsyndromic hearing loss 3A3 tests
Autosomal dominant nonsyndromic hearing loss 3B3 tests
Autosomal dominant nonsyndromic hearing loss 401 test
Autosomal dominant nonsyndromic hearing loss 411 test
Autosomal dominant nonsyndromic hearing loss 441 test
Autosomal dominant nonsyndromic hearing loss 4A1 test
Autosomal dominant nonsyndromic hearing loss 4B1 test
Autosomal dominant nonsyndromic hearing loss 51 test
Autosomal dominant nonsyndromic hearing loss 501 test
Autosomal dominant nonsyndromic hearing loss 561 test
Autosomal dominant nonsyndromic hearing loss 61 test
Autosomal dominant nonsyndromic hearing loss 641 test
Autosomal dominant nonsyndromic hearing loss 651 test
Autosomal dominant nonsyndromic hearing loss 661 test
Autosomal dominant nonsyndromic hearing loss 671 test
Autosomal dominant nonsyndromic hearing loss 681 test
Autosomal dominant nonsyndromic hearing loss 701 test
Autosomal dominant nonsyndromic hearing loss 91 test
Autosomal dominant optic atrophy classic form4 tests
Autosomal recessive Alport syndrome4 tests
Autosomal recessive DOPA responsive dystonia2 tests
Autosomal recessive ataxia due to ubiquinone deficiency3 tests
Autosomal recessive ataxia, Beauce type3 tests
Autosomal recessive distal spinal muscular atrophy 11 test
Autosomal recessive distal spinal muscular atrophy 22 tests
Autosomal recessive early-onset Parkinson disease 63 tests
Autosomal recessive early-onset Parkinson disease 73 tests
Autosomal recessive juvenile Parkinson disease 23 tests
Autosomal recessive limb-girdle muscular dystrophy type 2A4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2B4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2D3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2E2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2F2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2G3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2I4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2J5 tests
Autosomal recessive limb-girdle muscular dystrophy type 2K3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2L3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2M3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2N3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2O3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2P2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2Q2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2R4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2S2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2U2 tests
Autosomal recessive nonsyndromic hearing loss 1011 test
Autosomal recessive nonsyndromic hearing loss 1021 test
Autosomal recessive nonsyndromic hearing loss 1031 test
Autosomal recessive nonsyndromic hearing loss 1041 test
Autosomal recessive nonsyndromic hearing loss 121 test
Autosomal recessive nonsyndromic hearing loss 151 test
Autosomal recessive nonsyndromic hearing loss 161 test
Autosomal recessive nonsyndromic hearing loss 18A1 test
Autosomal recessive nonsyndromic hearing loss 18B1 test
Autosomal recessive nonsyndromic hearing loss 1A4 tests
Autosomal recessive nonsyndromic hearing loss 1B3 tests
Autosomal recessive nonsyndromic hearing loss 21 test
Autosomal recessive nonsyndromic hearing loss 211 test
Autosomal recessive nonsyndromic hearing loss 221 test
Autosomal recessive nonsyndromic hearing loss 231 test
Autosomal recessive nonsyndromic hearing loss 241 test
Autosomal recessive nonsyndromic hearing loss 251 test
Autosomal recessive nonsyndromic hearing loss 281 test
Autosomal recessive nonsyndromic hearing loss 291 test
Autosomal recessive nonsyndromic hearing loss 31 test
Autosomal recessive nonsyndromic hearing loss 301 test
Autosomal recessive nonsyndromic hearing loss 311 test
Autosomal recessive nonsyndromic hearing loss 321 test
Autosomal recessive nonsyndromic hearing loss 351 test
Autosomal recessive nonsyndromic hearing loss 361 test
Autosomal recessive nonsyndromic hearing loss 371 test
Autosomal recessive nonsyndromic hearing loss 391 test
Autosomal recessive nonsyndromic hearing loss 41 test
Autosomal recessive nonsyndromic hearing loss 421 test
Autosomal recessive nonsyndromic hearing loss 441 test
Autosomal recessive nonsyndromic hearing loss 481 test
Autosomal recessive nonsyndromic hearing loss 491 test
Autosomal recessive nonsyndromic hearing loss 531 test
Autosomal recessive nonsyndromic hearing loss 591 test
Autosomal recessive nonsyndromic hearing loss 61 test
Autosomal recessive nonsyndromic hearing loss 611 test
Autosomal recessive nonsyndromic hearing loss 631 test
Autosomal recessive nonsyndromic hearing loss 661 test
Autosomal recessive nonsyndromic hearing loss 671 test
Autosomal recessive nonsyndromic hearing loss 681 test
Autosomal recessive nonsyndromic hearing loss 71 test
Autosomal recessive nonsyndromic hearing loss 701 test
Autosomal recessive nonsyndromic hearing loss 741 test
Autosomal recessive nonsyndromic hearing loss 761 test
Autosomal recessive nonsyndromic hearing loss 771 test
Autosomal recessive nonsyndromic hearing loss 791 test
Autosomal recessive nonsyndromic hearing loss 81 test
Autosomal recessive nonsyndromic hearing loss 84A1 test
Autosomal recessive nonsyndromic hearing loss 84B1 test
Autosomal recessive nonsyndromic hearing loss 861 test
Autosomal recessive nonsyndromic hearing loss 881 test
Autosomal recessive nonsyndromic hearing loss 891 test
Autosomal recessive nonsyndromic hearing loss 91 test
Autosomal recessive nonsyndromic hearing loss 911 test
Autosomal recessive nonsyndromic hearing loss 931 test
Autosomal recessive nonsyndromic hearing loss 971 test
Autosomal recessive nonsyndromic hearing loss 981 test
Autosomal recessive pseudohypoaldosteronism type 16 tests
Autosomal recessive spinocerebellar ataxia 103 tests
Autosomal recessive spinocerebellar ataxia 113 tests
Autosomal recessive spinocerebellar ataxia 133 tests
Autosomal recessive spinocerebellar ataxia 142 tests
Azorean disease4 tests
Baraitser-Winter syndrome 11 test
Baraitser-winter syndrome 21 test
Bardet-Biedl syndrome4 tests
Bartter disease type 13 tests
Bartter disease type 22 tests
Bartter disease type 32 tests
Bartter disease type 4B2 tests
Bartter disease type 4a3 tests
Becker muscular dystrophy4 tests
Benign scapuloperoneal muscular dystrophy with cardiomyopathy1 test
Beta-D-mannosidosis1 test
Bethlem myopathy 11 test
Bifunctional peroxisomal enzyme deficiency1 test
Bilateral frontoparietal polymicrogyria2 tests
Biotin-responsive basal ganglia disease3 tests
Borjeson-Forssman-Lehmann syndrome2 tests
Bosch-Boonstra-Schaaf optic atrophy syndrome2 tests
Brain small vessel disease 1 with or without ocular anomalies2 tests
Brain small vessel disease with hemorrhage1 test
Branched-chain keto acid dehydrogenase kinase deficiency3 tests
Branchiooculofacial syndrome1 test
Branchiootic syndrome 11 test
Branchiootic syndrome 31 test
Branchiootorenal syndrome 11 test
Branchiootorenal syndrome 21 test
Brody myopathy1 test
Brugada syndrome 12 tests
Brugada syndrome 92 tests
CARASIL syndrome1 test
CHARGE association1 test
Camptodactyly-tall stature-scoliosis-hearing loss syndrome1 test
Carnitine palmitoyl transferase II deficiency, severe infantile form2 tests
Cataract 16 multiple types1 test
Central core myopathy1 test
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 14 tests
Cerebral cavernous malformation2 tests
Cerebral cavernous malformation 22 tests
Cerebral cavernous malformation 32 tests
Cerebral folate transport deficiency4 tests
Cerebrooculofacioskeletal syndrome 21 test
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)2 tests
Ceroid lipofuscinosis, neuronal, 6A2 tests
Charcot-Marie-Tooth disease X-linked dominant 18 tests
Charcot-Marie-Tooth disease X-linked recessive 41 test
Charcot-Marie-Tooth disease X-linked recessive 51 test
Charcot-Marie-Tooth disease axonal type 2C8 tests
Charcot-Marie-Tooth disease axonal type 2F8 tests
Charcot-Marie-Tooth disease axonal type 2K9 tests
Charcot-Marie-Tooth disease axonal type 2L8 tests
Charcot-Marie-Tooth disease dominant intermediate B13 tests
Charcot-Marie-Tooth disease dominant intermediate C10 tests
Charcot-Marie-Tooth disease dominant intermediate D9 tests
Charcot-Marie-Tooth disease recessive intermediate A5 tests
Charcot-Marie-Tooth disease type 1B9 tests
Charcot-Marie-Tooth disease type 1C7 tests
Charcot-Marie-Tooth disease type 1D8 tests
Charcot-Marie-Tooth disease type 1E12 tests
Charcot-Marie-Tooth disease type 1F7 tests
Charcot-Marie-Tooth disease type 2A26 tests
Charcot-Marie-Tooth disease type 2B7 tests
Charcot-Marie-Tooth disease type 2B112 tests
Charcot-Marie-Tooth disease type 2D8 tests
Charcot-Marie-Tooth disease type 2E7 tests
Charcot-Marie-Tooth disease type 2I9 tests
Charcot-Marie-Tooth disease type 2J9 tests
Charcot-Marie-Tooth disease type 2Y1 test
Charcot-Marie-Tooth disease type 4A9 tests
Charcot-Marie-Tooth disease type 4B17 tests
Charcot-Marie-Tooth disease type 4B27 tests
Charcot-Marie-Tooth disease type 4C7 tests
Charcot-Marie-Tooth disease type 4D7 tests
Charcot-Marie-Tooth disease type 4E4 tests
Charcot-Marie-Tooth disease type 4F7 tests
Charcot-Marie-Tooth disease type 4H7 tests
Charcot-Marie-Tooth disease type 4J9 tests
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive5 tests
Charcot-Marie-Tooth disease, type IA11 tests
Charlevoix-Saguenay spastic ataxia7 tests
Cholestanol storage disease2 tests
Chorea-acanthocytosis2 tests
Christianson syndrome3 tests
Chronic infantile neurological, cutaneous and articular syndrome1 test
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency4 tests
Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss2 tests
Cohen syndrome3 tests
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness1 test
Complex cortical dysplasia with other brain malformations 72 tests
Compton-North congenital myopathy1 test
Congenital adrenal hypoplasia, X-linked2 tests
Congenital bile acid synthesis defect 33 tests
Congenital cataract-hearing loss-severe developmental delay syndrome3 tests
Congenital generalized lipodystrophy type 23 tests
Congenital generalized lipodystrophy type 41 test
Congenital lipoid adrenal hyperplasia due to STAR deficency1 test
Congenital multicore myopathy with external ophthalmoplegia1 test
Congenital muscular dystrophy due to integrin alpha-7 deficiency1 test
Congenital muscular dystrophy with intellectual disability and severe epilepsy1 test
Congenital muscular hypertrophy-cerebral syndrome2 tests
Congenital myasthenic syndrome 101 test
Congenital myasthenic syndrome 111 test
Congenital myasthenic syndrome 121 test
Congenital myasthenic syndrome 131 test
Congenital myasthenic syndrome 182 tests
Congenital myasthenic syndrome 2A1 test
Congenital myasthenic syndrome 3B1 test
Congenital myasthenic syndrome 4A1 test
Congenital myasthenic syndrome 4B1 test
Congenital myasthenic syndrome 4C1 test
Congenital myasthenic syndrome 51 test
Congenital myasthenic syndrome 81 test
Congenital myasthenic syndrome 91 test
Congenital myopathy with fiber type disproportion3 tests
Congenital myopathy with internal nuclei and atypical cores2 tests
Congenital myotonia, autosomal dominant form3 tests
Congenital myotonia, autosomal recessive form3 tests
Corneal dystrophy-perceptive deafness syndrome1 test
Cornelia de Lange syndrome 12 tests
Cornelia de Lange syndrome 32 tests
Cortical dysplasia-focal epilepsy syndrome2 tests
Craniofacial-deafness-hand syndrome1 test
Craniometaphyseal dysplasia, autosomal dominant1 test
Creatine transporter deficiency3 tests
Crouzon syndrome1 test
Cutis laxa with osteodystrophy2 tests
DOORS syndrome1 test
DYRK1A-related intellectual disability syndrome2 tests
Deafness dystonia syndrome1 test
Deafness with labyrinthine aplasia, microtia, and microdontia1 test
Deafness, X-linked 51 test
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 11 test
Deafness, autosomal dominant, with peripheral neuropathy1 test
Deficiency of guanidinoacetate methyltransferase3 tests
Deficiency of steroid 11-beta-monooxygenase4 tests
Deficiency of steroid 17-alpha-monooxygenase1 test
Dentatorubral-pallidoluysian atrophy4 tests
Developmental and epileptic encephalopathy 943 tests
Developmental and epileptic encephalopathy, 16 tests
Developmental and epileptic encephalopathy, 114 tests
Developmental and epileptic encephalopathy, 122 tests
Developmental and epileptic encephalopathy, 132 tests
Developmental and epileptic encephalopathy, 143 tests
Developmental and epileptic encephalopathy, 152 tests
Developmental and epileptic encephalopathy, 172 tests
Developmental and epileptic encephalopathy, 182 tests
Developmental and epileptic encephalopathy, 26 tests
Developmental and epileptic encephalopathy, 232 tests
Developmental and epileptic encephalopathy, 243 tests
Developmental and epileptic encephalopathy, 252 tests
Developmental and epileptic encephalopathy, 262 tests
Developmental and epileptic encephalopathy, 274 tests
Developmental and epileptic encephalopathy, 282 tests
Developmental and epileptic encephalopathy, 302 tests
Developmental and epileptic encephalopathy, 312 tests
Developmental and epileptic encephalopathy, 322 tests
Developmental and epileptic encephalopathy, 333 tests
Developmental and epileptic encephalopathy, 364 tests
Developmental and epileptic encephalopathy, 43 tests
Developmental and epileptic encephalopathy, 53 tests
Developmental and epileptic encephalopathy, 532 tests
Developmental and epileptic encephalopathy, 543 tests
Developmental and epileptic encephalopathy, 72 tests
Developmental and epileptic encephalopathy, 83 tests
Developmental and epileptic encephalopathy, 94 tests
Developmental malformations-deafness-dystonia syndrome1 test
DiGeorge syndrome3 tests
Diabetes insipidus, nephrogenic, X-linked2 tests
Diabetes insipidus, nephrogenic, autosomal2 tests
Diabetes mellitus, transient neonatal, 22 tests
Diabetes mellitus, transient neonatal, 32 tests
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome3 tests
Dihydropyrimidine dehydrogenase deficiency3 tests
Dilated cardiomyopathy 1C1 test
Dilated cardiomyopathy 1II1 test
Dilated cardiomyopathy 1J1 test
Dilated cardiomyopathy 1S1 test
Distal myopathy with posterior leg and anterior hand involvement2 tests
Duchenne muscular dystrophy4 tests
Dystonia 53 tests
Dystonia 92 tests
EAST syndrome3 tests
Early myoclonic encephalopathy3 tests
Early-onset generalized limb-onset dystonia2 tests
Early-onset myopathy with fatal cardiomyopathy4 tests
Eichsfeld type congenital muscular dystrophy3 tests
Emery-Dreifuss muscular dystrophy 4, autosomal dominant4 tests
Emery-Dreifuss muscular dystrophy 5, autosomal dominant2 tests
Emery-Dreifuss muscular dystrophy 7, autosomal dominant2 tests
Encephalopathy due to GLUT1 deficiency3 tests
Epilepsy3 tests
Epilepsy, childhood absence, susceptibility to, 53 tests
Epilepsy, childhood absence, susceptibility to, 62 tests
Epilepsy, familial focal, with variable foci 12 tests
Epilepsy, familial temporal lobe, 13 tests
Epilepsy, idiopathic generalized, susceptibility to, 102 tests
Epilepsy, idiopathic generalized, susceptibility to, 132 tests
Epilepsy, idiopathic generalized, susceptibility to, 73 tests
Epilepsy, idiopathic generalized, susceptibility to, 82 tests
Epilepsy, idiopathic generalized, susceptibility to, 95 tests
Epilepsy, juvenile absence, susceptibility to, 12 tests
Epilepsy, progressive myoclonic, 1B2 tests
Epileptic encephalopathy5 tests
Episodic ataxia type 16 tests
Episodic ataxia type 54 tests
Episodic ataxia type 64 tests
FG syndrome 41 test
Facial paresis, hereditary congenital, 31 test
Facioscapulohumeral muscular dystrophy1 test
Facioscapulohumeral muscular dystrophy 21 test
Familial X-linked hypophosphatemic vitamin D refractory rickets2 tests
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial encephalopathy with neuroserpin inclusion bodies2 tests
Familial febrile seizures 83 tests
Familial hypocalciuric hypercalcemia 11 test
Familial hypokalemia-hypomagnesemia2 tests
Familial infantile myasthenia1 test
Familial infantile myoclonic epilepsy2 tests
Familial isolated deficiency of vitamin E4 tests
Familial juvenile hyperuricemic nephropathy type 11 test
Familial medullary thyroid carcinoma2 tests
Familial temporal lobe epilepsy 52 tests
Fatal infantile hypertonic myofibrillar myopathy2 tests
Febrile seizures, familial, 112 tests
Febrile seizures, familial, 42 tests
Finnish congenital nephrotic syndrome2 tests
Focal epilepsy2 tests
Focal segmental glomerulosclerosis 12 tests
Focal segmental glomerulosclerosis 22 tests
Focal segmental glomerulosclerosis 52 tests
Friedreich ataxia 15 tests
Frontotemporal dementia2 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 14 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 32 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 62 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 72 tests
GM3 synthase deficiency3 tests
GNE myopathy1 test
Gamma-aminobutyric acid transaminase deficiency3 tests
Generalized epilepsy with febrile seizures plus, type 13 tests
Generalized epilepsy with febrile seizures plus, type 25 tests
Generalized epilepsy with febrile seizures plus, type 72 tests
Generalized epilepsy with febrile seizures plus, type 92 tests
Gillespie syndrome3 tests
Glaucoma, normal tension, susceptibility to1 test
Glucocorticoid-remediable aldosteronism1 test
Goldberg-Shprintzen megacolon syndrome2 tests
Gonadotropin-independent familial sexual precocity1 test
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions2 tests
HSD10 mitochondrial disease2 tests
Hearing impairment1 test
Hearing loss, X-linked 11 test
Hearing loss, X-linked 41 test
Hearing loss, X-linked 61 test
Hearing loss, autosomal dominant 34, with or without inflammation1 test
Hearing loss, autosomal dominant 731 test
Hearing loss, autosomal recessive1 test
Hearing loss, autosomal recessive 1061 test
Hearing loss, autosomal recessive 1081 test
Heimler syndrome 11 test
Heimler syndrome 21 test
Hereditary disease1 test
Hereditary hearing loss and deafness1 test
Hereditary insensitivity to pain with anhidrosis2 tests
Hereditary liability to pressure palsies1 test
Hereditary sensory and autonomic neuropathy type 12 tests
Hereditary sensory neuropathy-deafness-dementia syndrome1 test
Hereditary spastic paraplegia 104 tests
Hereditary spastic paraplegia 115 tests
Hereditary spastic paraplegia 124 tests
Hereditary spastic paraplegia 134 tests
Hereditary spastic paraplegia 155 tests
Hereditary spastic paraplegia 174 tests
Hereditary spastic paraplegia 23 tests
Hereditary spastic paraplegia 304 tests
Hereditary spastic paraplegia 314 tests
Hereditary spastic paraplegia 354 tests
Hereditary spastic paraplegia 394 tests
Hereditary spastic paraplegia 3A5 tests
Hereditary spastic paraplegia 45 tests
Hereditary spastic paraplegia 424 tests
Hereditary spastic paraplegia 484 tests
Hereditary spastic paraplegia 5A4 tests
Hereditary spastic paraplegia 64 tests
Hereditary spastic paraplegia 75 tests
Hereditary spastic paraplegia 84 tests
Heterotopia, periventricular, X-linked dominant2 tests
High myopia-sensorineural deafness syndrome1 test
Hirschsprung disease, susceptibility to, 21 test
Holoprosencephaly 22 tests
Holoprosencephaly 32 tests
Huntington disease2 tests
Hyperinsulinemic hypoglycemia, familial, 12 tests
Hyperinsulinemic hypoglycemia, familial, 22 tests
Hyperinsulinism due to glucokinase deficiency2 tests
Hyperinsulinism-hyperammonemia syndrome2 tests
Hyperphosphatasia with intellectual disability syndrome 12 tests
Hyperphosphatasia with intellectual disability syndrome 22 tests
Hypertrophic cardiomyopathy 11 test
Hypogonadotropic hypogonadism 1 with or without anosmia3 tests
Hypogonadotropic hypogonadism 11 with or without anosmia3 tests
Hypogonadotropic hypogonadism 12 with or without anosmia3 tests
Hypogonadotropic hypogonadism 2 with or without anosmia5 tests
Hypogonadotropic hypogonadism 3 with or without anosmia4 tests
Hypogonadotropic hypogonadism 4 with or without anosmia4 tests
Hypogonadotropic hypogonadism 5 with or without anosmia3 tests
Hypogonadotropic hypogonadism 6 with or without anosmia3 tests
Hypogonadotropic hypogonadism 7 with or without anosmia4 tests
Hypogonadotropic hypogonadism 8 with or without anosmia4 tests
Hypokalemic periodic paralysis, type 11 test
Hypokalemic periodic paralysis, type 24 tests
Hypomyelinating leukodystrophy 21 test
Hypomyelinating leukodystrophy 43 tests
Hypoparathyroidism, deafness, renal disease syndrome1 test
Ichthyosis, hystrix-like, with hearing loss1 test
Idiopathic generalized epilepsy1 test
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 12 tests
Infantile hypophosphatasia2 tests
Infantile neuroaxonal dystrophy2 tests
Infantile onset spinocerebellar ataxia3 tests
Infantile spasms2 tests
Infantile-onset X-linked spinal muscular atrophy2 tests
Intellectual disability, X-linked 12 tests
Intellectual disability, X-linked 302 tests
Intellectual disability, X-linked 722 tests
Intellectual disability, X-linked 962 tests
Intellectual disability, X-linked, with or without seizures, arx-related2 tests
Intellectual disability, autosomal dominant 12 tests
Intellectual disability, autosomal dominant 203 tests
Intellectual disability, autosomal dominant 243 tests
Intellectual disability, autosomal dominant 54 tests
Intellectual disability, autosomal dominant 82 tests
Intellectual disability, autosomal dominant 93 tests
Intellectual disability-epilepsy-extrapyramidal syndrome3 tests
Isolated focal cortical dysplasia type II4 tests
Isolated growth hormone deficiency type IB3 tests
Jervell and Lange-Nielsen syndrome 11 test
Jervell and Lange-Nielsen syndrome 21 test
Joubert syndrome 22 tests
Joubert syndrome 32 tests
Joubert syndrome 52 tests
Joubert syndrome 62 tests
Joubert syndrome 92 tests
Joubert syndrome with renal defect2 tests
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke5 tests
KBG syndrome2 tests
Kabuki syndrome 11 test
Kennedy disease1 test
Keratosis follicularis2 tests
Kniest dysplasia1 test
Knuckle pads, deafness AND leukonychia syndrome1 test
Koolen-de Vries syndrome2 tests
Kufor-Rakeb syndrome2 tests
Kugelberg-Welander disease4 tests
L-2-hydroxyglutaric aciduria2 tests
LAMB2-related infantile-onset nephrotic syndrome2 tests
Lafora disease2 tests
Landau-Kleffner syndrome4 tests
Laurence-Moon syndrome3 tests
Leber optic atrophy1 test
Leigh syndrome2 tests
Lesch-Nyhan syndrome2 tests
Lethal neonatal spasticity-epileptic encephalopathy syndrome3 tests
Leucine-induced hypoglycemia2 tests
Levy-Hollister syndrome1 test
Liddle syndrome 15 tests
Lipoic acid synthetase deficiency3 tests
Lissencephaly 42 tests
Lissencephaly due to LIS1 mutation2 tests
Lissencephaly due to TUBA1A mutation2 tests
Lissencephaly type 1 due to doublecortin gene mutation3 tests
Long QT syndrome 22 tests
Luscan-Lumish syndrome2 tests
MASA syndrome3 tests
MEGF10-Related Myopathy1 test
MERRF syndrome3 tests
MYH7-related late-onset scapuloperoneal muscular dystrophy1 test
MYH7-related skeletal myopathy1 test
Macrocephaly-autism syndrome1 test
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
Malignant hyperthermia, susceptibility to, 11 test
Malignant hyperthermia, susceptibility to, 51 test
Mandibulofacial dysostosis with alopecia1 test
Marinesco-Sjögren syndrome3 tests
Marshall syndrome1 test
Mast syndrome4 tests
Maturity-onset diabetes of the young type 13 tests
Maturity-onset diabetes of the young type 25 tests
Maturity-onset diabetes of the young type 35 tests
Maturity-onset diabetes of the young type 42 tests
Maturity-onset diabetes of the young type 81 test
Megaconial type congenital muscular dystrophy1 test
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
Merosin deficient congenital muscular dystrophy3 tests
Metachromatic leukodystrophy1 test
Microcephaly 1, primary, autosomal recessive4 tests
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations4 tests
Microcephaly 5, primary, autosomal recessive5 tests
Microcephaly 6, primary, autosomal recessive2 tests
Microcephaly 7, primary, autosomal recessive2 tests
Microcephaly, seizures, and developmental delay2 tests
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome2 tests
Migraine, familial hemiplegic, 19 tests
Migraine, familial hemiplegic, 24 tests
Migraine, familial hemiplegic, 34 tests
Mitochondrial DNA depletion syndrome 12 tests
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive2 tests
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)1 test
Mitochondrial DNA depletion syndrome 32 tests
Mitochondrial DNA depletion syndrome 4b4 tests
Mitochondrial DNA depletion syndrome 8a3 tests
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria2 tests
Mitochondrial DNA depletion syndrome, myopathic form2 tests
Mitochondrial complex I deficiency2 tests
Mitochondrial complex III deficiency nuclear type 11 test
Mitochondrial non-syndromic sensorineural hearing loss1 test
Miyoshi muscular dystrophy 14 tests
Miyoshi muscular dystrophy 32 tests
Mowat-Wilson syndrome2 tests
Muenke syndrome1 test
Multiple congenital anomalies-hypotonia-seizures syndrome 13 tests
Multiple congenital anomalies-hypotonia-seizures syndrome 23 tests
Multiple endocrine neoplasia, type 11 test
Multiple endocrine neoplasia, type 2a2 tests
Multiple endocrine neoplasia, type 2b2 tests
Multiple epiphyseal dysplasia1 test
Multiple epiphyseal dysplasia, Beighton type1 test
Muscle eye brain disease4 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 44 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A131 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A24 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A56 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A63 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A91 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 101 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 72 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 81 test
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B12 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B22 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B32 tests
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B42 tests
Muscular dystrophy-dystroglycanopathy type B54 tests
Muscular dystrophy-dystroglycanopathy type B61 test
Mutilating keratoderma1 test
Myasthenic syndrome, congenital, 1B, fast-channel1 test
Myasthenic syndrome, slow-channel congenital1 test
Myoclonic dystonia 112 tests
Myoclonic-atonic epilepsy2 tests
Myofibrillar myopathy 13 tests
Myofibrillar myopathy 22 tests
Myofibrillar myopathy 34 tests
Myofibrillar myopathy 42 tests
Myofibrillar myopathy 52 tests
Myofibrillar myopathy 61 test
Myopathy, centronuclear, 21 test
Myopathy, myofibrillar, 9, with early respiratory failure4 tests
Myopathy, myosin storage, autosomal recessive2 tests
Myopathy, proximal, and ophthalmoplegia1 test
Myopathy, reducing body, X-linked, childhood-onset3 tests
Myopathy, reducing body, X-linked, early-onset, severe3 tests
Myosin storage myopathy2 tests
Myotonic dystrophy type 22 tests
NARP syndrome1 test
NDE1-related microhydranencephaly2 tests
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome1 test
Navajo neurohepatopathy2 tests
Nemaline myopathy 11 test
Nemaline myopathy 22 tests
Nemaline myopathy 41 test
Nemaline myopathy 51 test
Nemaline myopathy 61 test
Nemaline myopathy 71 test
Nemaline myopathy 81 test
Nephronophthisis 11 test
Nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome1 test
Nephrotic syndrome 152 tests
Nephrotic syndrome, type 23 tests
Nephrotic syndrome, type 32 tests
Nephrotic syndrome, type 42 tests
Neurodegeneration with brain iron accumulation 53 tests
Neurofibromatosis, type 13 tests
Neurofibromatosis, type 23 tests
Neuronal ceroid lipofuscinosis 12 tests
Neuronal ceroid lipofuscinosis 102 tests
Neuronal ceroid lipofuscinosis 112 tests
Neuronal ceroid lipofuscinosis 132 tests
Neuronal ceroid lipofuscinosis 22 tests
Neuronal ceroid lipofuscinosis 32 tests
Neuronal ceroid lipofuscinosis 52 tests
Neuronal ceroid lipofuscinosis 72 tests
Neuronal ceroid lipofuscinosis 82 tests
Neuronopathy, distal hereditary motor, type 2C1 test
Neuronopathy, distal hereditary motor, type 5A3 tests
Neuronopathy, distal hereditary motor, type 5B3 tests
Neuronopathy, distal hereditary motor, type 7B1 test
Neuropathy, hereditary sensory and autonomic, type 1C2 tests
Neuropathy, hereditary sensory and autonomic, type 2A2 tests
Neuropathy, hereditary sensory, type 1D1 test
Neuropathy, hereditary sensory, type 2C3 tests
Non-ketotic hyperglycinemia3 tests
Nonsyndromic Deafness1 test
Noonan syndrome 11 test
Noonan syndrome 32 tests
Noonan syndrome 42 tests
Noonan syndrome 52 tests
Norman-Roberts syndrome2 tests
Obesity2 tests
Obesity due to leptin receptor gene deficiency2 tests
Ocular albinism with congenital sensorineural hearing loss1 test
Oculopharyngeal muscular dystrophy1 test
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy4 tests
Orofaciodigital syndrome I2 tests
Osteogenesis imperfecta type I2 tests
Osteogenesis imperfecta type III3 tests
Osteogenesis imperfecta with normal sclerae, dominant form3 tests
Osteogenesis imperfecta, recessive perinatal lethal3 tests
Osteoporosis with pseudoglioma1 test
Otofaciocervical syndrome 11 test
Otospondylomegaepiphyseal dysplasia, autosomal dominant1 test
Otospondylomegaepiphyseal dysplasia, autosomal recessive1 test
PCWH syndrome1 test
PHARC syndrome1 test
PHGDH deficiency2 tests
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome3 tests
Paget disease of bone 31 test
Palmoplantar keratoderma-deafness syndrome1 test
Paroxysmal nonkinesigenic dyskinesia 11 test
Partial albinism1 test
Partington syndrome2 tests
Pelger-Huët anomaly2 tests
Pelizaeus-Merzbacher disease5 tests
Pendred syndrome1 test
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome1 test
Periventricular heterotopia with microcephaly, autosomal recessive2 tests
Permanent neonatal diabetes mellitus7 tests
Peroxisome biogenesis disorder 1A (Zellweger)1 test
Peroxisome biogenesis disorder 1B1 test
Peroxisome biogenesis disorder 4B1 test
Peroxisome biogenesis disorder 9B2 tests
Perrault syndrome 11 test
Perrault syndrome 21 test
Perrault syndrome 31 test
Perrault syndrome 41 test
Perry syndrome1 test
Pfeiffer syndrome1 test
Phelan-McDermid syndrome1 test
Pheochromocytoma3 tests
Phosphoribosylpyrophosphate synthetase superactivity1 test
Pierpont syndrome2 tests
Pigmentary pallidal degeneration2 tests
Pili torti-deafness syndrome1 test
Pitt-Hopkins syndrome2 tests
Pitt-Hopkins-like syndrome 22 tests
Pituitary hormone deficiency, combined, 12 tests
Pituitary hormone deficiency, combined, 22 tests
Polycystic kidney disease 25 tests
Polycystic kidney disease, adult type5 tests
Polyglandular autoimmune syndrome, type 12 tests
Polymicrogyria with optic nerve hypoplasia2 tests
Pontocerebellar hypoplasia type 1A1 test
Pontocerebellar hypoplasia type 2A2 tests
Pontocerebellar hypoplasia type 42 tests
Posterior column ataxia-retinitis pigmentosa syndrome3 tests
Postmenopausal osteoporosis1 test
Potassium-aggravated myotonia5 tests
Primary open angle glaucoma1 test
Progressive demyelinating neuropathy with bilateral striatal necrosis4 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 14 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 22 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 33 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 53 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 14 tests
Progressive myoclonic epilepsy type 33 tests
Progressive myoclonic epilepsy type 62 tests
Progressive myoclonic epilepsy type 72 tests
Progressive myoclonic epilepsy type 92 tests
Progressive sclerosing poliodystrophy5 tests
Pyridoxal phosphate-responsive seizures3 tests
Pyridoxine-dependent epilepsy2 tests
Pyruvate dehydrogenase complex deficiency1 test
RAPH BLOOD GROUP SYSTEM1 test
Renal cysts and diabetes syndrome4 tests
Renal tubular acidosis with progressive nerve deafness1 test
Renpenning syndrome3 tests
Rett syndrome2 tests
Rett syndrome, congenital variant4 tests
Rippling muscle disease 25 tests
Ritscher-Schinzel syndrome 13 tests
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked3 tests
SHOX-related short stature2 tests
SLC35A2-CDG5 tests
Saethre-Chotzen syndrome1 test
Sarcotubular myopathy3 tests
Schinzel-Giedion syndrome2 tests
Schizencephaly2 tests
Schwannomatosis 13 tests
Schwartz-Jampel syndrome1 test
Seizure2 tests
Seizures, benign familial infantile, 24 tests
Seizures, benign familial neonatal, 22 tests
Sensorineural hearing loss disorder1 test
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis11 tests
Severe X-linked myotubular myopathy1 test
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome1 test
Severe autosomal recessive muscular dystrophy of childhood - North African type3 tests
Severe myoclonic epilepsy in infancy2 tests
Severe neonatal-onset encephalopathy with microcephaly4 tests
Severe neurodegenerative syndrome with lipodystrophy3 tests
Short stature due to partial GHR deficiency1 test
Simpson-Golabi-Behmel syndrome type 12 tests
Sinoatrial node dysfunction and deafness1 test
Sleep-related hypermotor epilepsy2 tests
Smith-Lemli-Opitz syndrome1 test
Smith-Magenis syndrome2 tests
Spastic ataxia 13 tests
Spastic ataxia 43 tests
Spastic ataxia 54 tests
Spheroid body myopathy3 tests
Spinal muscular atrophy, type II4 tests
Spinal muscular atrophy, type IV4 tests
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome2 tests
Spinocerebellar ataxia 74 tests
Spinocerebellar ataxia type 14 tests
Spinocerebellar ataxia type 104 tests
Spinocerebellar ataxia type 113 tests
Spinocerebellar ataxia type 123 tests
Spinocerebellar ataxia type 133 tests
Spinocerebellar ataxia type 143 tests
Spinocerebellar ataxia type 163 tests
Spinocerebellar ataxia type 174 tests
Spinocerebellar ataxia type 19/223 tests
Spinocerebellar ataxia type 24 tests
Spinocerebellar ataxia type 233 tests
Spinocerebellar ataxia type 263 tests
Spinocerebellar ataxia type 273 tests
Spinocerebellar ataxia type 285 tests
Spinocerebellar ataxia type 293 tests
Spinocerebellar ataxia type 353 tests
Spinocerebellar ataxia type 53 tests
Spinocerebellar ataxia type 61 test
Spinocerebellar ataxia type 84 tests
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 13 tests
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 25 tests
Split hand-foot malformation 1 with sensorineural hearing loss1 test
Spondyloperipheral dysplasia-short ulna syndrome1 test
Steinert myotonic dystrophy syndrome3 tests
Stickler syndrome type 11 test
Stickler syndrome type 21 test
Stickler syndrome, type 41 test
Stickler syndrome, type 51 test
Syndromic X-linked intellectual disability 942 tests
Syndromic X-linked intellectual disability Claes-Jensen type2 tests
Syndromic X-linked intellectual disability Hedera type2 tests
Syndromic X-linked intellectual disability Snyder type2 tests
Temtamy preaxial brachydactyly syndrome1 test
Tibial muscular dystrophy4 tests
Tietz syndrome1 test
Torsion dystonia 62 tests
Townes-Brocks syndrome 11 test
Treacher Collins syndrome 21 test
Treacher Collins syndrome 31 test
Treacher-Collins syndrome 11 test
Tremor, hereditary essential, 41 test
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome3 tests
Troyer syndrome4 tests
Tuberous sclerosis 13 tests
Tuberous sclerosis 27 tests
Type 2 diabetes mellitus7 tests
Ullrich congenital muscular dystrophy 11 test
Unverricht-Lundborg syndrome4 tests
Usher syndrome type 11 test
Usher syndrome type 1C1 test
Usher syndrome type 1D1 test
Usher syndrome type 1F1 test
Usher syndrome type 1G1 test
Usher syndrome type 1J1 test
Usher syndrome type 2A1 test
Usher syndrome type 2C1 test
Usher syndrome type 2D1 test
Usher syndrome type 31 test
Vanishing white matter disease6 tests
Velocardiofacial syndrome1 test
Von Hippel-Lindau syndrome2 tests
Waardenburg syndrome type 11 test
Waardenburg syndrome type 2A1 test
Waardenburg syndrome type 2D1 test
Waardenburg syndrome type 2E1 test
Waardenburg syndrome type 31 test
Waardenburg syndrome type 4A1 test
Waardenburg syndrome type 4B1 test
Waardenburg syndrome type 4C1 test
Warburg micro syndrome 12 tests
Welander distal myopathy1 test
Werdnig-Hoffmann disease4 tests
West syndrome2 tests
Wolfram syndrome 11 test
Wolfram syndrome 21 test
Wolfram-like syndrome1 test
X-linked Alport syndrome4 tests
X-linked Emery-Dreifuss muscular dystrophy2 tests
X-linked complicated corpus callosum dysgenesis3 tests
X-linked epilepsy-learning disabilities-behavior disorders syndrome2 tests
X-linked hydrocephalus syndrome3 tests
X-linked intellectual disability Cabezas type2 tests
X-linked intellectual disability, Cantagrel type2 tests
X-linked intellectual disability-cerebellar hypoplasia syndrome2 tests
X-linked intellectual disability-hypotonic face syndrome2 tests
X-linked lissencephaly with abnormal genitalia3 tests
X-linked mixed hearing loss with perilymphatic gusher1 test
X-linked myopathy with postural muscle atrophy4 tests
Xeroderma pigmentosum group B1 test
Xeroderma pigmentosum, group D1 test
Zimmermann-Laband syndrome 21 test
nonsyndromic sensorineural hearing loss1 test
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