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: 15644

Gene

GeneSubmissionsLast Updated
ABAT14Dec 30, 2020
ABCC884Dec 30, 2020
ABCD126Dec 30, 2020
ABHD124Sep 25, 2019
ACTA11Sep 25, 2019
ACTB3Sep 25, 2019
ACTG112Dec 30, 2020
ACTN422Dec 30, 2020
ADCY16Sep 25, 2019
ADGRG121Dec 30, 2020
ADGRV1115Dec 30, 2020
ADSL10Sep 25, 2019
AFG3L243Dec 30, 2020
AGRN22Dec 30, 2020
AHI11Sep 25, 2019
AIFM12Sep 25, 2019
AIRE20Sep 25, 2019
ALDH7A16Dec 30, 2020
ALG1316Dec 30, 2020
ALG93Sep 25, 2019
ALMS125Dec 30, 2020
ALPL14Dec 30, 2020
ALS235Dec 30, 2020
AMT6Dec 30, 2020
ANAPC152Sep 25, 2019
ANG4Sep 25, 2019
ANGPT21Aug 31, 2018
ANKH3Dec 30, 2020
ANKRD1153Dec 30, 2020
ANO1047Dec 30, 2020
ANO536Dec 30, 2020
ANOS16Dec 30, 2020
AP5Z154Dec 30, 2020
APOB1Aug 17, 2017
APP23Dec 30, 2020
APTX21Dec 30, 2020
AQP24Aug 31, 2018
ARFGEF1-DT4Dec 30, 2020
ARFGEF215Dec 30, 2020
ARHGEF93Sep 25, 2019
ARMS25Aug 31, 2018
ARSA6Dec 30, 2020
ARX3Aug 17, 2017
ASAH113Dec 30, 2020
ASPM82Dec 30, 2020
ASTN28Dec 30, 2020
ATL118Dec 30, 2020
ATM127Dec 30, 2020
ATP13A231Dec 30, 2020
ATP1A237Dec 30, 2020
ATP1A315Dec 30, 2020
ATP2A125Dec 30, 2020
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
AXDND18Sep 25, 2019
B3GNT41Dec 30, 2020
B4GAT11Aug 31, 2018
BAG37Aug 31, 2018
BBS17Sep 25, 2019
BBS103Aug 17, 2017
BBS22Aug 31, 2018
BCKDK6Dec 30, 2020
BCS1L2Sep 25, 2019
BDP112Dec 30, 2020
BICD24Aug 31, 2018
BIN13Dec 30, 2020
BRAT139Dec 30, 2020
BSCL218Dec 30, 2020
BSND3Aug 31, 2018
C10orf1054Dec 30, 2020
C11orf6548Dec 30, 2020
C12orf433Dec 30, 2020
C17orf1078Sep 25, 2019
CABP21Sep 25, 2019
CACNA1A233Dec 30, 2020
CACNA1D10Dec 30, 2020
CACNA1H137Dec 30, 2020
CACNA1S63Dec 30, 2020
CACNA2D112Sep 25, 2019
CACNA2D1-AS12Aug 17, 2017
CACNA2D213Dec 30, 2020
CACNB433Dec 30, 2020
CAPN375Dec 30, 2020
CASD125Dec 30, 2020
CASK3Dec 30, 2020
CASR77Dec 30, 2020
CATIP-AS25Aug 31, 2018
CAV318Dec 30, 2020
CAVIN13Dec 30, 2020
CC2D2A2Aug 17, 2017
CCDC504Sep 25, 2019
CCDC7811Dec 30, 2020
CCDC88C18Aug 31, 2018
CCM212Dec 30, 2020
CCNF1Sep 25, 2019
CDC14A2Sep 25, 2019
CDH2336Dec 30, 2020
CDH23-AS11Sep 25, 2019
CDKL58Dec 30, 2020
CEACAM164Dec 30, 2020
CEMIP15Dec 30, 2020
CENPJ14Dec 30, 2020
CEP2903Dec 30, 2020
CHAT8Dec 30, 2020
CHD221Dec 30, 2020
CHD719Dec 30, 2020
CHKB4Aug 31, 2018
CHKB-CPT1B4Aug 31, 2018
CHMP2B10Dec 30, 2020
CHRNA15Sep 25, 2019
CHRNA28Dec 30, 2020
CHRNA424Dec 30, 2020
CHRNB11Aug 17, 2017
CHRNB214Dec 30, 2020
CHRND4Sep 25, 2019
CHRNE13Sep 25, 2019
CHSY113Dec 30, 2020
CIB22Sep 25, 2019
CISD21Sep 25, 2019
CIZ11Aug 31, 2018
CLCC11Sep 25, 2019
CLCN1122Dec 30, 2020
CLCNKA13Aug 31, 2018
CLCNKB37Dec 30, 2020
CLDN145Sep 25, 2019
CLIC53Sep 25, 2019
CLN37Dec 30, 2020
CLN510Sep 25, 2019
CLN69Dec 30, 2020
CLN89Dec 30, 2020
CLPP4Sep 25, 2019
CLRN12Dec 30, 2020
CNTN16Dec 30, 2020
CNTNAP230Dec 30, 2020
COCH1Dec 30, 2020
COL11A19Dec 30, 2020
COL11A29Dec 30, 2020
COL18A132Aug 31, 2018
COL1A172Dec 30, 2020
COL1A240Dec 30, 2020
COL2A115Dec 30, 2020
COL4A152Dec 30, 2020
COL4A21Jul 17, 2017
COL4A360Dec 30, 2020
COL4A483Dec 30, 2020
COL4A576Dec 30, 2020
COL4A67Dec 30, 2020
COL6A120Dec 30, 2020
COL6A223Dec 30, 2020
COL6A349Dec 30, 2020
COL9A110Dec 30, 2020
COL9A215Dec 30, 2020
COL9A315Dec 30, 2020
COLQ4Sep 25, 2019
COQ8A73Dec 30, 2020
CPA68Dec 30, 2020
CPLANE11Aug 31, 2018
CPT213Dec 30, 2020
CRH3Aug 31, 2018
CRPPA11Dec 30, 2020
CRPPA-AS14Dec 30, 2020
CRYAB3Dec 30, 2020
CRYM1Sep 25, 2019
CSTB6Dec 30, 2020
CTSD9Sep 25, 2019
CTSF15Dec 30, 2020
CUL4B7Sep 25, 2019
CYB561D27Dec 30, 2020
CYP11B143Dec 30, 2020
CYP17A13Aug 31, 2018
CYP21A238Dec 30, 2020
CYP27A116Dec 30, 2020
CYP7B113Dec 30, 2020
DAG121Dec 30, 2020
DCDC25Dec 30, 2020
DCTN127Dec 30, 2020
DCX2Sep 25, 2019
DEAF112Sep 25, 2019
DEPDC527Dec 30, 2020
DES28Dec 30, 2020
DGUOK1Aug 17, 2017
DGUOK-AS11Aug 17, 2017
DHCR78Sep 25, 2019
DIABLO1Dec 30, 2020
DIAPH15Dec 30, 2020
DIAPH37Dec 30, 2020
DLX51Dec 30, 2020
DM1-AS1Sep 25, 2019
DMAC2L2Aug 31, 2018
DMD182Dec 30, 2020
DNAJB68Dec 30, 2020
DNAJC53Sep 25, 2019
DNM17Sep 25, 2019
DNM243Dec 30, 2020
DNMT13Dec 30, 2020
DOCK718Dec 30, 2020
DOK712Dec 30, 2020
DPAGT13Dec 30, 2020
DPM21Dec 30, 2020
DPYD21Dec 30, 2020
DPYD-AS15Dec 30, 2020
DSPP11Dec 30, 2020
DYNC1H152Dec 30, 2020
DYRK1A6Sep 25, 2019
DYSF118Dec 30, 2020
EDN31Sep 25, 2019
EDNRB4Sep 25, 2019
EDNRB-AS13Sep 25, 2019
EEF1A29Dec 30, 2020
EEF285Dec 30, 2020
EFHC122Sep 25, 2019
EGR27Dec 30, 2020
EIF2B33Dec 30, 2020
EIF2B45Aug 31, 2018
EIF2B53Aug 31, 2018
ELMOD35Dec 30, 2020
EMD5Sep 25, 2019
EMX24Sep 25, 2019
EMX2OS1Aug 17, 2017
EPM2A14Sep 25, 2019
EPS86Sep 25, 2019
EPS8L25Dec 30, 2020
ERCC26Sep 25, 2019
ERCC33Sep 25, 2019
ESPN3Dec 30, 2020
ESR14Dec 30, 2020
ESR26Dec 30, 2020
ESRRB5Dec 30, 2020
EYA13Sep 25, 2019
EYA41Sep 25, 2019
FA2H13Dec 30, 2020
FANCI8Dec 30, 2020
FBXL35Sep 25, 2019
FBXO30-DT4Sep 25, 2019
FGD17Sep 25, 2019
FGD424Dec 30, 2020
FGF1419Dec 30, 2020
FGF233Sep 25, 2019
FGF32Sep 25, 2019
FGF81Aug 31, 2018
FGFR19Dec 30, 2020
FGFR26Dec 30, 2020
FGFR320Dec 30, 2020
FHL17Dec 30, 2020
FIG436Dec 30, 2020
FKRP28Dec 30, 2020
FKTN16Dec 30, 2020
FLNA29Dec 30, 2020
FLNC39Dec 30, 2020
FLNC-AS116Dec 30, 2020
FLVCR136Dec 30, 2020
FOLR12Sep 25, 2019
FOXG19Dec 30, 2020
FOXI14Sep 25, 2019
FTCD4Aug 31, 2018
FUS18Dec 30, 2020
FXN26Dec 30, 2020
GABRA15Dec 30, 2020
GABRB26Sep 25, 2019
GABRB38Sep 25, 2019
GABRD13Sep 25, 2019
GABRG213Sep 25, 2019
GAMT6Sep 25, 2019
GARS133Dec 30, 2020
GATA32Dec 30, 2020
GATAD12Sep 25, 2019
GATM4Dec 30, 2020
GCH117Dec 30, 2020
GCK194Dec 30, 2020
GDAP111Dec 30, 2020
GFAP26Dec 30, 2020
GFPT14Dec 30, 2020
GH-LCR119Dec 30, 2020
GH15Sep 25, 2019
GHR5Dec 30, 2020
GIPC32Sep 25, 2019
GJB164Dec 30, 2020
GJB271Dec 30, 2020
GJB38Sep 25, 2019
GJC21Dec 30, 2020
GLDC34Dec 30, 2020
GLUD110Sep 25, 2019
GML10Dec 30, 2020
GNAO18Aug 31, 2018
GNAO1-AS11Aug 31, 2018
GNE6Dec 30, 2020
GNRH11Aug 31, 2018
GNRHR1Aug 17, 2017
GOSR26Dec 30, 2020
GPC35Dec 30, 2020
GPSM29Dec 30, 2020
GRHL24Sep 25, 2019
GRIA36Dec 30, 2020
GRIN110Sep 25, 2019
GRIN2A15Dec 30, 2020
GRIN2B18Sep 25, 2019
GRM173Dec 30, 2020
GRN49Dec 30, 2020
GRXCR12Sep 25, 2019
GRXCR23Sep 25, 2019
GSDME2Sep 25, 2019
HCN18Sep 25, 2019
HCN429Dec 30, 2020
HGF2Dec 30, 2020
HNF1A102Dec 30, 2020
HNF1B33Dec 30, 2020
HNF4A66Dec 30, 2020
HNRNPU7Sep 25, 2019
HNRNPUL2-BSCL218Dec 30, 2020
HOMER27Dec 30, 2020
HOXB13Sep 25, 2019
HSD11B28Sep 25, 2019
HSD17B48Sep 25, 2019
HSD3B23Sep 25, 2019
HSPB122Dec 30, 2020
HSPB34Aug 31, 2018
HSPB89Dec 30, 2020
HSPD19Dec 30, 2020
HSPG2238Dec 30, 2020
HTRA117Dec 30, 2020
IGHMBP222Dec 30, 2020
ILDR15Sep 25, 2019
INF228Dec 30, 2020
INS8Dec 30, 2020
INS-IGF25Aug 31, 2018
IQSEC27Dec 30, 2020
ITGA77Dec 30, 2020
ITPR1145Dec 30, 2020
KAAG11Dec 30, 2020
KANSL126Dec 30, 2020
KARS14Sep 25, 2019
KBTBD136Dec 30, 2020
KCNA127Dec 30, 2020
KCNA25Sep 25, 2019
KCNB15Aug 31, 2018
KCNC16Dec 30, 2020
KCNC332Dec 30, 2020
KCND344Dec 30, 2020
KCNE11Sep 25, 2019
KCNH226Dec 30, 2020
KCNJ17Dec 30, 2020
KCNJ108Dec 30, 2020
KCNJ1126Dec 30, 2020
KCNJ24Sep 25, 2019
KCNMA120Dec 30, 2020
KCNMA1-AS15Sep 25, 2019
KCNQ15Sep 25, 2019
KCNQ1-AS11Sep 25, 2019
KCNQ219Dec 30, 2020
KCNQ312Dec 30, 2020
KCNQ45Sep 25, 2019
KCNT140Dec 30, 2020
KCTD77Dec 30, 2020
KDM5C3Dec 30, 2020
KIF1A52Dec 30, 2020
KIF5A21Dec 30, 2020
KIFBP10Dec 30, 2020
KIRREL21Aug 17, 2017
KISS1R4Dec 30, 2020
KLHL4010Dec 30, 2020
KMT2D53Dec 30, 2020
KRIT19Dec 30, 2020
L1CAM12Dec 30, 2020
L2HGDH13Dec 30, 2020
LAMA283Dec 30, 2020
LAMB216Dec 30, 2020
LARGE116Dec 30, 2020
LARS29Dec 30, 2020
LARS2-AS14Dec 30, 2020
LBR14Dec 30, 2020
LDB313Dec 30, 2020
LDLR12Aug 31, 2018
LDLRAD215Dec 30, 2020
LEPR12Dec 30, 2020
LGI14Dec 30, 2020
LHCGR8Sep 25, 2019
LIAS5Sep 25, 2019
LITAF5Sep 25, 2019
LMNA41Dec 30, 2020
LMNB211Dec 30, 2020
LOC1001305872Aug 17, 2017
LOC1005060711Dec 30, 2020
LOC10192705514Dec 30, 2020
LOC1019278707Sep 25, 2019
LOC10192800817Dec 30, 2020
LOC10272405837Dec 30, 2020
LOC10537104944Dec 30, 2020
LOC10537156610Dec 30, 2020
LOC10650171213Aug 31, 2018
LOC10650171333Dec 30, 2020
LOC10678080036Dec 30, 2020
LOC10679983334Dec 30, 2020
LOC1070753171Sep 25, 2019
LOC1073033402Dec 30, 2020
LOC10765244511Dec 30, 2020
LOC1079822342Jul 17, 2017
LOC1089031483Aug 31, 2018
LOC1101212695Sep 25, 2019
LOC1101214864Dec 30, 2020
LOC1106739722Aug 17, 2017
LOC1125336712Aug 31, 2018
LOXHD123Dec 30, 2020
LRP58Dec 30, 2020
LRRC37A26Dec 30, 2020
LRRK221Dec 30, 2020
LRTOMT4Sep 25, 2019
MAF5Aug 31, 2018
MAGI217Dec 30, 2020
MAGI2-AS32Sep 25, 2019
MANBA4Dec 30, 2020
MAPT23Dec 30, 2020
MARVELD24Dec 30, 2020
MATR32Aug 17, 2017
MBD514Dec 30, 2020
MC4R12Dec 30, 2020
MCM27Dec 30, 2020
MCOLN12Dec 30, 2020
MCPH124Dec 30, 2020
MCPH1-AS17Dec 30, 2020
ME23Aug 17, 2017
MECP220Dec 30, 2020
MEGF109Dec 30, 2020
MEN111Dec 30, 2020
MESD1Sep 25, 2019
MET6Sep 25, 2019
MFF-DT59Dec 30, 2020
MFN255Dec 30, 2020
MFSD83Sep 25, 2019
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
MPV171Aug 31, 2018
MPZ44Dec 30, 2020
MRE1148Dec 30, 2020
MSRB31Dec 30, 2020
MT-CO126Dec 30, 2020
MT-CO211Dec 30, 2020
MT-ND117Dec 30, 2020
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
MTMR216Dec 30, 2020
MTPAP27Dec 30, 2020
MUSK8Dec 30, 2020
MYBPC39Dec 30, 2020
MYH111Aug 17, 2017
MYH1423Dec 30, 2020
MYH25Dec 30, 2020
MYH719Dec 30, 2020
MYH911Sep 25, 2019
MYHAS5Dec 30, 2020
MYO15A24Dec 30, 2020
MYO3A10Dec 30, 2020
MYO69Sep 25, 2019
MYO7A27Dec 30, 2020
MYOT13Dec 30, 2020
NARS25Dec 30, 2020
NDE15Sep 25, 2019
NDP1Sep 25, 2019
NDP-AS11Sep 25, 2019
NDRG117Dec 30, 2020
NDUFA12Dec 30, 2020
NEB92Dec 30, 2020
NEFL16Dec 30, 2020
NEXMIF10Sep 25, 2019
NF148Dec 30, 2020
NF210Dec 30, 2020
NHLRC17Dec 30, 2020
NICN11Sep 25, 2019
NIPA17Dec 30, 2020
NIPBL19Dec 30, 2020
NLRP310Dec 30, 2020
NOC3L2Aug 17, 2017
NOTCH3299Dec 30, 2020
NPHS137Dec 30, 2020
NPHS225Dec 30, 2020
NR0B18Dec 30, 2020
NR2F12Aug 31, 2018
NRXN119Dec 30, 2020
NTRK113Dec 30, 2020
OFD17Dec 30, 2020
OPA165Dec 30, 2020
OPA1-AS12Aug 31, 2018
OPHN19Dec 30, 2020
OPTN13Dec 30, 2020
OSBPL24Dec 30, 2020
OTOA3Dec 30, 2020
OTOF32Dec 30, 2020
OTOG39Dec 30, 2020
OTOGL11Dec 30, 2020
OTOP21Sep 25, 2019
P2RX24Dec 30, 2020
PACRG1Sep 25, 2019
PAFAH1B11Aug 31, 2018
PAK33Sep 25, 2019
PANK29Dec 30, 2020
PARK74Dec 30, 2020
PAX33Dec 30, 2020
PCDH1523Dec 30, 2020
PCDH1921Dec 30, 2020
PDCD101Aug 17, 2017
PDX125Dec 30, 2020
PDYN20Dec 30, 2020
PDYN-AS120Dec 30, 2020
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
PIGA3Sep 25, 2019
PIGN16Sep 25, 2019
PIGO14Dec 30, 2020
PIGV1Aug 17, 2017
PINK116Dec 30, 2020
PINK1-AS10Dec 30, 2020
PJVK1Sep 25, 2019
PKD1423Dec 30, 2020
PKD242Dec 30, 2020
PLA2G68Dec 30, 2020
PLCB117Sep 25, 2019
PLCE123Dec 30, 2020
PLCE1-AS11Sep 25, 2019
PLD31Jul 17, 2017
PLEC296Dec 30, 2020
PLP15Dec 30, 2020
PLUT8Dec 30, 2020
PMP2225Dec 30, 2020
PNKD5Aug 31, 2018
PNKP13Sep 25, 2019
PNPLA628Dec 30, 2020
PNPO7Dec 30, 2020
PNPT13Dec 30, 2020
POLG132Dec 30, 2020
POLR1C3Dec 30, 2020
POLR1D5Sep 25, 2019
POLR2F3Sep 25, 2019
POMGNT121Dec 30, 2020
POMGNT24Dec 30, 2020
POMT151Dec 30, 2020
POMT230Dec 30, 2020
POU1F11Aug 31, 2018
POU4F33Sep 25, 2019
PPT14Dec 30, 2020
PQBP12Aug 31, 2018
PRICKLE117Dec 30, 2020
PRICKLE216Dec 30, 2020
PRIMA15Sep 25, 2019
PRKCG56Dec 30, 2020
PRKN15Dec 30, 2020
PROK21Aug 17, 2017
PROKR25Dec 30, 2020
PROP15Aug 31, 2018
PRPS11Dec 30, 2020
PRRT212Dec 30, 2020
PRX49Dec 30, 2020
PSEN138Dec 30, 2020
PSEN221Dec 30, 2020
PTCHD1-AS6Sep 25, 2019
PTEN1Aug 31, 2018
PTPN114Dec 30, 2020
PTPRQ19Dec 30, 2020
PURA1Sep 25, 2019
QARS17Dec 30, 2020
RAB33A2Sep 25, 2019
RAB39B1Dec 30, 2020
RAB3GAP114Dec 30, 2020
RAB7A6Dec 30, 2020
RAB9B5Dec 30, 2020
RAI126Sep 25, 2019
RAPSN8Dec 30, 2020
RBFOX19Sep 25, 2019
RDX3Dec 30, 2020
REEP19Dec 30, 2020
RELN62Dec 30, 2020
RET20Dec 30, 2020
RIF118Dec 30, 2020
RIPOR221Dec 30, 2020
RNASE44Sep 25, 2019
RNASEH2A5Sep 25, 2019
RNASEH2B7Sep 25, 2019
RNASEH2C1Dec 30, 2020
RNF172Sep 25, 2019
ROGDI12Sep 25, 2019
ROR13Sep 25, 2019
RRM2B2Sep 25, 2019
RS13Dec 30, 2020
RTN219Dec 30, 2020
RXYLT14Dec 30, 2020
RXYLT1-AS11Aug 31, 2018
RYR153Dec 30, 2020
S1PR23Dec 30, 2020
SACS252Dec 30, 2020
SALL18Dec 30, 2020
SAMHD12Aug 31, 2018
SBF246Dec 30, 2020
SBF2-AS111Dec 30, 2020
SCARB29Dec 30, 2020
SCN1A82Dec 30, 2020
SCN1A-AS132Dec 30, 2020
SCN1B9Sep 25, 2019
SCN2A36Dec 30, 2020
SCN3A19Dec 30, 2020
SCN4A168Dec 30, 2020
SCN5A45Dec 30, 2020
SCN8A18Dec 30, 2020
SCN9A39Dec 30, 2020
SCNN1B22Dec 30, 2020
SCNN1G13Dec 30, 2020
SCO23Sep 25, 2019
SDHB4Aug 31, 2018
SELENON15Dec 30, 2020
SEMA3E4Sep 25, 2019
SEPTIN99Dec 30, 2020
SERPINB64Dec 30, 2020
SERPINI14Sep 25, 2019
SETBP112Dec 30, 2020
SETD218Dec 30, 2020
SETX195Dec 30, 2020
SGCA17Dec 30, 2020
SGCB12Dec 30, 2020
SGCD10Dec 30, 2020
SGCE27Dec 30, 2020
SGCG18Dec 30, 2020
SH3TC250Dec 30, 2020
SHANK21Aug 31, 2018
SHANK31Aug 31, 2018
SHH5Sep 25, 2019
SHLD21Aug 31, 2018
SHOX44Dec 30, 2020
SIGMAR14Dec 30, 2020
SIK117Dec 30, 2020
SIL139Dec 30, 2020
SIX11Sep 25, 2019
SIX38Sep 25, 2019
SIX54Dec 30, 2020
SLC12A123Dec 30, 2020
SLC12A354Dec 30, 2020
SLC13A54Sep 25, 2019
SLC17A83Dec 30, 2020
SLC19A112Aug 31, 2018
SLC19A22Sep 25, 2019
SLC19A313Dec 30, 2020
SLC1A337Dec 30, 2020
SLC22A43Dec 30, 2020
SLC25A195Sep 25, 2019
SLC25A228Dec 30, 2020
SLC25A42Dec 30, 2020
SLC26A410Dec 30, 2020
SLC26A4-AS11Sep 25, 2019
SLC26A53Dec 30, 2020
SLC2A116Sep 25, 2019
SLC33A19Dec 30, 2020
SLC35A25Dec 30, 2020
SLC4A108Aug 31, 2018
SLC4A1111Dec 30, 2020
SLC6A115Dec 30, 2020
SLC6A1-AS13Sep 25, 2019
SLC6A815Sep 25, 2019
SLC9A69Dec 30, 2020
SLITRK66Sep 25, 2019
SMC1A6Dec 30, 2020
SMC310Sep 25, 2019
SMCHD124Dec 30, 2020
SMN120Dec 30, 2020
SMS2Dec 30, 2020
SNAI21Sep 25, 2019
SNAP253Aug 31, 2018
SNAP296Aug 31, 2018
SNHG148Dec 30, 2020
SOD123Dec 30, 2020
SOS12Aug 17, 2017
SOX103Sep 25, 2019
SPART10Dec 30, 2020
SPAST77Dec 30, 2020
SPATA519Dec 30, 2020
SPG1158Dec 30, 2020
SPG215Dec 30, 2020
SPG742Dec 30, 2020
SPTAN134Dec 30, 2020
SPTBN2190Dec 30, 2020
SPTLC13Sep 25, 2019
SPTLC22Sep 25, 2019
SQSTM121Dec 30, 2020
SRPX25Sep 25, 2019
SSUH25Dec 30, 2020
ST3GAL35Sep 25, 2019
ST3GAL56Sep 25, 2019
STAR6Sep 25, 2019
STIL13Dec 30, 2020
STON1-GTF2A1L8Sep 25, 2019
STRC11Dec 30, 2020
STX1B6Sep 25, 2019
STXBP111Dec 30, 2020
SUCLA210Dec 30, 2020
SYN110Dec 30, 2020
SYNE1624Dec 30, 2020
SYNE1-AS19Dec 30, 2020
SYNE2127Dec 30, 2020
SYNE43Dec 30, 2020
SYNGAP17Dec 30, 2020
SYNJ123Dec 30, 2020
SYP1Aug 31, 2018
SYT1424Dec 30, 2020
SZT241Dec 30, 2020
TACR31Aug 31, 2018
TAPBPL5Dec 30, 2020
TARDBP13Dec 30, 2020
TARID1Sep 25, 2019
TBC1D2418Dec 30, 2020
TBCEL-TECTA12Sep 25, 2019
TBL1XR18Dec 30, 2020
TBX115Dec 30, 2020
TCAP6Dec 30, 2020
TCF411Dec 30, 2020
TCOF113Dec 30, 2020
TDP149Dec 30, 2020
TECTA12Sep 25, 2019
TFAP2A2Sep 25, 2019
TGM698Dec 30, 2020
TH21Dec 30, 2020
THAP17Dec 30, 2020
TIA13Aug 17, 2017
TJP211Dec 30, 2020
TK22Dec 30, 2020
TMC110Dec 30, 2020
TMEM132E7Sep 25, 2019
TMEM2161Aug 17, 2017
TMEM437Dec 30, 2020
TMEM672Aug 17, 2017
TMPRSS34Dec 30, 2020
TNC20Dec 30, 2020
TNNT11Sep 25, 2019
TNXB3Dec 30, 2020
TPM22Dec 30, 2020
TPM32Sep 25, 2019
TPP122Dec 30, 2020
TPRN3Sep 25, 2019
TRAPPC1126Dec 30, 2020
TRAPPC2L1Aug 31, 2018
TREX110Sep 25, 2019
TRIM328Dec 30, 2020
TRIOBP11Dec 30, 2020
TRPC618Dec 30, 2020
TRPV449Dec 30, 2020
TSC163Dec 30, 2020
TSC2193Dec 30, 2020
TSEN5420Dec 30, 2020
TSPAN120Dec 30, 2020
TSPEAR8Sep 25, 2019
TSPEAR-AS11Sep 25, 2019
TSR23Sep 25, 2019
TTBK258Dec 30, 2020
TTN957Dec 30, 2020
TTN-AS1530Dec 30, 2020
TTPA14Dec 30, 2020
TTR26Dec 30, 2020
TUBA1A8Dec 30, 2020
TUBA87Sep 25, 2019
TUBB2B5Sep 25, 2019
TUBB62Dec 30, 2020
TWNK9Dec 30, 2020
TYMP5Sep 25, 2019
UBA13Sep 25, 2019
UBE3A8Dec 30, 2020
UBQLN29Dec 30, 2020
UMOD8Sep 25, 2019
USH1C5Sep 25, 2019
USH1G4Sep 25, 2019
USH2A45Dec 30, 2020
USH2A-AS13Sep 25, 2019
USH2A-AS21Dec 30, 2020
VAMP15Dec 30, 2020
VAPB7Dec 30, 2020
VCP13Dec 30, 2020
VHL5Dec 30, 2020
VPS13A50Dec 30, 2020
VPS13B53Dec 30, 2020
VRK11Aug 31, 2018
WASHC518Dec 30, 2020
WDR454Sep 25, 2019
WDR6234Sep 25, 2019
WFS117Dec 30, 2020
WHRN10Dec 30, 2020
WNK121Dec 30, 2020
WT112Dec 30, 2020
WWOX24Sep 25, 2019
YARS19Dec 30, 2020
ZDHHC245Sep 25, 2019
ZEB210Dec 30, 2020
ZFYVE2661Dec 30, 2020
ZRANB32Aug 31, 2018

Condition

NameSubmissionsLast Updated
Adrenoleukodystrophy1Jul 17, 2017
Alport syndrome 3, autosomal dominant8Jul 17, 2017
Alport syndrome, autosomal recessive12Jul 17, 2017
Alzheimer disease, type 42Jul 17, 2017
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia2Jul 17, 2017
Amyotrophic lateral sclerosis type 113Jul 17, 2017
Amyotrophic lateral sclerosis type 42Jul 17, 2017
Ateleiotic dwarfism2Jul 17, 2017
Autosomal dominant isolated somatotropin deficiency2Jul 17, 2017
Autosomal dominant medullary cystic kidney disease with hyperuricemia2Jul 17, 2017
Autosomal dominant optic atrophy classic form2Jul 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
Bardet-Biedl syndrome 15Jul 17, 2017
Bardet-Biedl syndrome 101Jul 17, 2017
Bardet-Biedl syndrome 21Jul 17, 2017
Bartter disease type 4a1Jul 17, 2017
Bartter syndrome, type 1, antenatal1Jul 17, 2017
Becker muscular dystrophy7Jul 17, 2017
Benign familial neonatal seizures 13Jul 17, 2017
Bethlem myopathy 121Jul 17, 2017
Brain small vessel disease with hemorrhage19Jul 17, 2017
CARASIL4Jul 17, 2017
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 15Jul 17, 2017
Charcot-Marie-Tooth Neuropathy X Type 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 type 2B1Jul 17, 2017
Charcot-Marie-Tooth disease type 2B11Oct 6, 2015
Charcot-Marie-Tooth disease type 2D4Jul 17, 2017
Charcot-Marie-Tooth disease type 2I2Jul 17, 2017
Charcot-Marie-Tooth disease type 2J2Jul 17, 2017
Charcot-Marie-Tooth disease type 2K1Jul 17, 2017
Charcot-Marie-Tooth disease, demyelinating, type 1b8Jul 17, 2017
Charcot-Marie-Tooth disease, demyelinating, type 4F7Jul 17, 2017
Charcot-Marie-Tooth disease, dominant intermediate C1Jul 17, 2017
Charcot-Marie-Tooth disease, type 1C1Jul 17, 2017
Charcot-Marie-Tooth disease, type 2A2A6Oct 6, 2015
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 4J4Jul 17, 2017
Charcot-Marie-Tooth disease, type IA3Oct 6, 2015
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2Jul 17, 2017
Cohen syndrome2Jul 17, 2017
Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B52Jul 17, 2017
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A52Jul 17, 2017
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B16Jul 17, 2017
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B41Jul 17, 2017
Congenital myasthenic syndrome, acetazolamide-responsive16Jul 17, 2017
Congenital myotonia, autosomal dominant form1Jul 17, 2017
Congenital myotonia, autosomal recessive form1Jul 17, 2017
Deafness, autosomal dominant 3a1Jul 17, 2017
Deafness, autosomal recessive 1A1Jul 17, 2017
Dilated cardiomyopathy 1A2Oct 6, 2015
Distal hereditary motor neuronopathy type 54Jul 17, 2017
Distal myopathy, Tateyama type1Jul 17, 2017
Drash syndrome3Jul 17, 2017
Duchenne muscular dystrophy70Jul 17, 2017
Emery-Dreifuss muscular dystrophy 2, autosomal dominant4Oct 6, 2015
Epilepsy, nocturnal frontal lobe, type 14Jul 17, 2017
Epileptic encephalopathy, early infantile, 12Jul 17, 2017
Episodic ataxia type 27Jul 17, 2017
Familial febrile seizures 82Jul 17, 2017
Familial hemiplegic migraine type 17Jul 17, 2017
Familial hemiplegic migraine type 21Jul 17, 2017
Familial hemiplegic migraine type 34Jul 17, 2017
Familial hyperkalemic periodic paralysis16Jul 17, 2017
Familial hypokalemia-hypomagnesemia10Jul 17, 2017
Familial juvenile gout2Jul 17, 2017
Familial partial lipodystrophy 21Oct 6, 2015
Finnish congenital nephrotic syndrome4Jul 17, 2017
Focal segmental glomerulosclerosis 14Jul 17, 2017
Focal segmental glomerulosclerosis 23Jul 17, 2017
Focal segmental glomerulosclerosis 53Jul 17, 2017
Frasier syndrome3Jul 17, 2017
Fukuyama congenital muscular dystrophy1Jul 17, 2017
GLUT1 deficiency syndrome 12Jul 17, 2017
Generalized epilepsy with febrile seizures plus, type 24Jul 17, 2017
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions9Jul 17, 2017
Hereditary sensory and autonomic neuropathy type IIA12Jul 17, 2017
Hereditary sensory neuropathy type 1D2Jul 17, 2017
Hereditary spastic paraplegia 3A2Jul 17, 2017
Hereditary spastic paraplegia 73Jul 17, 2017
Hereditary spastic paraplegia 83Jul 17, 2017
Hyperinsulinemic hypoglycemia, familial, 14Jul 17, 2017
Hyperinsulinism-hyperammonemia syndrome2Jul 17, 2017
Hypokalemic periodic paralysis 17Jul 17, 2017
Hypokalemic periodic paralysis, type 216Jul 17, 2017
Idiopathic nephrotic syndrome2Jul 17, 2017
Islet cell hyperplasia6Jul 17, 2017
Isolated growth hormone deficiency type IB2Jul 17, 2017
Juvenile myoclonic epilepsy7Jul 17, 2017
Kallmann syndrome 33Jul 17, 2017
Lafora disease2Jul 17, 2017
Laron-type isolated somatotropin defect3Jul 17, 2017
Leptin receptor deficiency1Jul 17, 2017
Limb-girdle muscular dystrophy, type 2A15Jul 17, 2017
Limb-girdle muscular dystrophy, type 2L4Oct 6, 2015
Limb-girdle muscular dystrophy-dystroglycanopathy, type C16Jul 17, 2017
Limb-girdle muscular dystrophy-dystroglycanopathy, type C41Jul 17, 2017
Limb-girdle muscular dystrophy-dystroglycanopathy, type C54Jul 17, 2017
Malignant hyperthermia, susceptibility to, 57Jul 17, 2017
Mental retardation, with or without seizures, ARX-related, X-linked2Jul 17, 2017
Merosin deficient congenital muscular dystrophy10Jul 17, 2017
Metachromatic leukodystrophy3Jul 17, 2017
Miyoshi muscular dystrophy 11Jul 17, 2017
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 16Jul 17, 2017
Myoclonic dystonia 112Jul 17, 2017
Myofibrillar myopathy 32Jul 17, 2017
Myofibrillar myopathy, BAG3-related4Jul 17, 2017
Myopathy with postural muscle atrophy, X-linked1Jul 17, 2017
Myopathy, distal, with anterior tibial onset1Jul 17, 2017
Nephrogenic diabetes insipidus, X-linked1Jul 17, 2017
Nephrogenic syndrome of inappropriate antidiuresis1Jul 17, 2017
Nephrotic syndrome, type 43Jul 17, 2017
Paramyotonia congenita of von Eulenburg16Jul 17, 2017
Parkinson disease 6, autosomal recessive early-onset2Jul 17, 2017
Paroxysmal nonkinesigenic dyskinesia 13Jul 17, 2017
Pitt-Hopkins-like syndrome 17Jul 17, 2017
Polycystic kidney disease, adult type26Jul 17, 2017
Potassium-aggravated myotonia16Jul 17, 2017
Primary autosomal recessive microcephaly 210Jul 17, 2017
Rett syndrome4Oct 6, 2015
Rippling muscle disease 21Jul 17, 2017
Scapuloperoneal myopathy, X-linked dominant1Jul 17, 2017
Severe autosomal recessive muscular dystrophy of childhood - North African type2Jul 17, 2017
Severe myoclonic epilepsy in infancy29Jul 17, 2017
Short stature due to growth hormone qualitative anomaly2Jul 17, 2017
Smith-Lemli-Opitz syndrome6Jul 17, 2017
Smith-Magenis syndrome6Jul 17, 2017
Spastic paraplegia 11, autosomal recessive5Jul 17, 2017
Spastic paraplegia 31, autosomal dominant1Jul 17, 2017
Spinal muscular atrophy, distal, autosomal recessive, 18Jul 17, 2017
Spinocerebellar ataxia type 141Jul 17, 2017
Spinocerebellar ataxia type 55Jul 17, 2017
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 22Jul 17, 2017
Tuberous sclerosis 126Jul 17, 2017
Tuberous sclerosis 267Jul 17, 2017
Ullrich congenital muscular dystrophy 121Jul 17, 2017
Wilms tumor 13Jul 17, 2017
not provided11044Dec 30, 2020
not specified3976Dec 30, 2020

Testing in GTR

Disease nameNumber of tests
22q13.3 deletion syndrome1 test
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
Adenylosuccinate lyase deficiency5 tests
Adrenoleukodystrophy3 tests
Adult 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
Albinism, ocular, with sensorineural deafness1 test
Alexander Disease4 tests
Alpha-B crystallinopathy2 tests
Alport syndrome 1, X-linked recessive4 tests
Alport syndrome 3, autosomal dominant3 tests
Alport syndrome, autosomal recessive4 tests
Alstrom syndrome1 test
Alternating hemiplegia of childhood 22 tests
Alzheimer disease2 tests
Alzheimer disease 21 test
Alzheimer disease, type 32 tests
Alzheimer disease, type 42 tests
Aminoglycoside-induced deafness1 test
Amyloidogenic transthyretin amyloidosis2 tests
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia2 tests
Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia2 tests
Amyotrophic lateral sclerosis 16, juvenile2 tests
Amyotrophic lateral sclerosis 172 tests
Amyotrophic lateral sclerosis 182 tests
Amyotrophic lateral sclerosis 211 test
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia2 tests
Amyotrophic lateral sclerosis and/or frontotemporal dementia 14 tests
Amyotrophic lateral sclerosis type 13 tests
Amyotrophic lateral sclerosis type 102 tests
Amyotrophic lateral sclerosis type 122 tests
Amyotrophic lateral sclerosis type 26 tests
Amyotrophic lateral sclerosis type 45 tests
Amyotrophic lateral sclerosis type 82 tests
Amyotrophic lateral sclerosis type 92 tests
Amyotrophy, hereditary neuralgic1 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, spastic, 1, autosomal dominant3 tests
Ataxia, spastic, 4, autosomal recessive3 tests
Ataxia-hypogonadism-choroidal dystrophy syndrome3 tests
Ataxia-oculomotor apraxia type 14 tests
Ataxia-telangiectasia syndrome4 tests
Ataxia-telangiectasia-like disorder 13 tests
Ateleiotic dwarfism2 tests
Atrophia bulborum hereditaria1 test
Auditory neuropathy, autosomal dominant, 11 test
Autism 171 test
Autosomal dominant hypophosphatemic rickets2 tests
Autosomal dominant isolated somatotropin deficiency2 tests
Autosomal dominant medullary cystic kidney disease with hyperuricemia1 test
Autosomal dominant nonsyndromic deafness 171 test
Autosomal dominant nonsyndromic deafness 2A1 test
Autosomal dominant nonsyndromic deafness 61 test
Autosomal dominant optic atrophy classic form4 tests
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 14 tests
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 22 tests
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 33 tests
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 53 tests
Autosomal recessive DOPA responsive dystonia2 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 non-syndromic sensorineural deafness type DFNB1 test
Autosomal recessive pseudohypoaldosteronism type 16 tests
Azorean disease4 tests
Baraitser-Winter Syndrome 21 test
Baraitser-Winter syndrome 11 test
Bardet-Biedl syndrome4 tests
Bartter disease type 4a3 tests
Bartter syndrome type 32 tests
Bartter syndrome, type 1, antenatal3 tests
Bartter syndrome, type 2, antenatal2 tests
Bartter syndrome, type 4b2 tests
Becker muscular dystrophy4 tests
Benign familial neonatal seizures 22 tests
Beta-D-mannosidosis1 test
Bethlem myopathy 11 test
Bifunctional peroxisomal enzyme deficiency1 test
Bile acid synthesis defect, congenital, 33 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
CARASIL1 test
CHARGE association1 test
Camptodactyly-tall stature-scoliosis-hearing loss syndrome1 test
Carnitine palmitoyltransferase II deficiency, infantile2 tests
Cataract 16, multiple types1 test
Central core myopathy1 test
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant1 test
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 14 tests
Cerebral cavernous malformation2 tests
Cerebral cavernous malformations 22 tests
Cerebral cavernous malformations 32 tests
Cerebral folate transport deficiency4 tests
Cerebrooculofacioskeletal syndrome 21 test
Ceroid lipofuscinosis neuronal 22 tests
Ceroid lipofuscinosis, neuronal, 112 tests
Ceroid lipofuscinosis, neuronal, 132 tests
Charcot-Marie-Tooth Neuropathy X Type 18 tests
Charcot-Marie-Tooth disease and deafness12 tests
Charcot-Marie-Tooth disease axonal type 2C8 tests
Charcot-Marie-Tooth disease axonal type 2F8 tests
Charcot-Marie-Tooth disease dominant intermediate d9 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 2K9 tests
Charcot-Marie-Tooth disease, X-linked recessive, type 51 test
Charcot-Marie-Tooth disease, axonal, type 2y1 test
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive5 tests
Charcot-Marie-Tooth disease, demyelinating, type 1b9 tests
Charcot-Marie-Tooth disease, demyelinating, type 1d8 tests
Charcot-Marie-Tooth disease, demyelinating, type 1f7 tests
Charcot-Marie-Tooth disease, demyelinating, type 4F7 tests
Charcot-Marie-Tooth disease, dominant intermediate B13 tests
Charcot-Marie-Tooth disease, dominant intermediate C10 tests
Charcot-Marie-Tooth disease, recessive intermediate A5 tests
Charcot-Marie-Tooth disease, type 1C7 tests
Charcot-Marie-Tooth disease, type 2A2A6 tests
Charcot-Marie-Tooth disease, type 2L8 tests
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 4H7 tests
Charcot-Marie-Tooth disease, type 4J9 tests
Charcot-Marie-Tooth disease, type IA11 tests
Charlevoix-Saguenay spastic ataxia7 tests
Cholestanol storage disease2 tests
Cholesterol monooxygenase (side-chain cleaving) deficiency1 test
Choreoacanthocytosis2 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
Coenzyme Q10 deficiency, primary, 43 tests
Cohen syndrome3 tests
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness1 test
Congenital adrenal hypoplasia, X-linked2 tests
Congenital cataracts, hearing loss, and neurodegeneration3 tests
Congenital disorder of glycosylation type 1u1 test
Congenital generalized lipodystrophy type 23 tests
Congenital hypomyelinating neuropathy 1, autosomal recessive4 tests
Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B54 tests
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A56 tests
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A24 tests
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A63 tests
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A72 tests
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B12 tests
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B22 tests
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B32 tests
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B61 test
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B42 tests
Congenital muscular hypertrophy-cerebral syndrome2 tests
Congenital myasthenic syndrome 121 test
Congenital myasthenic syndrome 131 test
Congenital myasthenic syndrome 1B, fast-channel1 test
Congenital myasthenic syndrome 3B1 test
Congenital myasthenic syndrome 4C1 test
Congenital myopathy with fiber type disproportion3 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
Corpus callosum, partial agenesis of, X-linked3 tests
Cowchock syndrome1 test
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
Deafness and myopia1 test
Deafness dystonia syndrome1 test
Deafness enamel hypoplasia nail defects1 test
Deafness with labyrinthine aplasia microtia and microdontia (LAMM)1 test
Deafness, X-linked 11 test
Deafness, X-linked 21 test
Deafness, X-linked 41 test
Deafness, X-linked 51 test
Deafness, X-linked 61 test
Deafness, autosomal dominant 11 test
Deafness, autosomal dominant 101 test
Deafness, autosomal dominant 111 test
Deafness, autosomal dominant 121 test
Deafness, autosomal dominant 131 test
Deafness, autosomal dominant 151 test
Deafness, autosomal dominant 201 test
Deafness, autosomal dominant 221 test
Deafness, autosomal dominant 231 test
Deafness, autosomal dominant 251 test
Deafness, autosomal dominant 281 test
Deafness, autosomal dominant 2b1 test
Deafness, autosomal dominant 34, with or without inflammation1 test
Deafness, autosomal dominant 361 test
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 11 test
Deafness, autosomal dominant 3a3 tests
Deafness, autosomal dominant 3b3 tests
Deafness, autosomal dominant 41 test
Deafness, autosomal dominant 401 test
Deafness, autosomal dominant 411 test
Deafness, autosomal dominant 441 test
Deafness, autosomal dominant 4b1 test
Deafness, autosomal dominant 51 test
Deafness, autosomal dominant 501 test
Deafness, autosomal dominant 561 test
Deafness, autosomal dominant 641 test
Deafness, autosomal dominant 651 test
Deafness, autosomal dominant 661 test
Deafness, autosomal dominant 671 test
Deafness, autosomal dominant 681 test
Deafness, autosomal dominant 701 test
Deafness, autosomal dominant 731 test
Deafness, autosomal dominant 91 test
Deafness, autosomal dominant, with peripheral neuropathy1 test
Deafness, autosomal recessive 1011 test
Deafness, autosomal recessive 1021 test
Deafness, autosomal recessive 1031 test
Deafness, autosomal recessive 1041 test
Deafness, autosomal recessive 1061 test
Deafness, autosomal recessive 1081 test
Deafness, autosomal recessive 121 test
Deafness, autosomal recessive 151 test
Deafness, autosomal recessive 161 test
Deafness, autosomal recessive 181 test
Deafness, autosomal recessive 18b1 test
Deafness, autosomal recessive 1A4 tests
Deafness, autosomal recessive 1b3 tests
Deafness, autosomal recessive 21 test
Deafness, autosomal recessive 211 test
Deafness, autosomal recessive 221 test
Deafness, autosomal recessive 231 test
Deafness, autosomal recessive 241 test
Deafness, autosomal recessive 251 test
Deafness, autosomal recessive 281 test
Deafness, autosomal recessive 291 test
Deafness, autosomal recessive 31 test
Deafness, autosomal recessive 301 test
Deafness, autosomal recessive 311 test
Deafness, autosomal recessive 321 test
Deafness, autosomal recessive 351 test
Deafness, autosomal recessive 36, with or without vestibular involvement1 test
Deafness, autosomal recessive 371 test
Deafness, autosomal recessive 391 test
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct1 test
Deafness, autosomal recessive 421 test
Deafness, autosomal recessive 441 test
Deafness, autosomal recessive 481 test
Deafness, autosomal recessive 491 test
Deafness, autosomal recessive 531 test
Deafness, autosomal recessive 591 test
Deafness, autosomal recessive 61 test
Deafness, autosomal recessive 611 test
Deafness, autosomal recessive 631 test
Deafness, autosomal recessive 661 test
Deafness, autosomal recessive 671 test
Deafness, autosomal recessive 681 test
Deafness, autosomal recessive 71 test
Deafness, autosomal recessive 701 test
Deafness, autosomal recessive 741 test
Deafness, autosomal recessive 761 test
Deafness, autosomal recessive 771 test
Deafness, autosomal recessive 791 test
Deafness, autosomal recessive 81 test
Deafness, autosomal recessive 841 test
Deafness, autosomal recessive 84b1 test
Deafness, autosomal recessive 861 test
Deafness, autosomal recessive 881 test
Deafness, autosomal recessive 891 test
Deafness, autosomal recessive 91 test
Deafness, autosomal recessive 911 test
Deafness, autosomal recessive 931 test
Deafness, autosomal recessive 971 test
Deafness, autosomal recessive 981 test
Deafness, congenital, with onychodystrophy, autosomal dominant1 test
Deafness, nonsyndromic sensorineural, mitochondrial1 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 malformations-deafness-dystonia syndrome1 test
DiGeorge Syndrome3 tests
Dihydropyrimidine dehydrogenase deficiency3 tests
Dilated cardiomyopathy 1C1 test
Dilated cardiomyopathy 1II1 test
Dilated cardiomyopathy 1J1 test
Dilated cardiomyopathy 1S1 test
Distal hereditary motor neuronopathy type 2C1 test
Distal hereditary motor neuronopathy type 53 tests
Distal hereditary motor neuronopathy type 5B3 tests
Distal hereditary motor neuronopathy type 7B1 test
Distal spinal muscular atrophy, autosomal recessive 22 tests
Duchenne muscular dystrophy4 tests
Dyskinesia, seizures, and intellectual developmental disorder3 tests
Dystonia 12 tests
Dystonia 53 tests
Dystonia 92 tests
EAST syndrome3 tests
Early infantile epileptic encephalopathy 102 tests
Early infantile epileptic encephalopathy 114 tests
Early infantile epileptic encephalopathy 122 tests
Early infantile epileptic encephalopathy 132 tests
Early infantile epileptic encephalopathy 143 tests
Early infantile epileptic encephalopathy 152 tests
Early infantile epileptic encephalopathy 172 tests
Early infantile epileptic encephalopathy 182 tests
Early infantile epileptic encephalopathy 26 tests
Early infantile epileptic encephalopathy 43 tests
Early infantile epileptic encephalopathy 53 tests
Early infantile epileptic encephalopathy 72 tests
Early infantile epileptic encephalopathy 83 tests
Early infantile epileptic encephalopathy 94 tests
Early myoclonic encephalopathy3 tests
Ectodermal dysplasia/short stature syndrome1 test
Eichsfeld type congenital muscular dystrophy3 tests
Emery-Dreifuss muscular dystrophy 1, X-linked2 tests
Emery-Dreifuss muscular dystrophy 2, autosomal dominant1 test
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, familial, with neuroserpin inclusion bodies2 tests
Encephalopathy, progressive, with or without lipodystrophy3 tests
Endplate acetylcholinesterase deficiency1 test
Epilepsy3 tests
Epilepsy, X-linked, with variable learning disabilities and behavior disorders2 tests
Epilepsy, childhood absence 53 tests
Epilepsy, childhood absence 62 tests
Epilepsy, familial focal, with variable foci 12 tests
Epilepsy, familial temporal lobe, 52 tests
Epilepsy, focal, with speech disorder and with or without mental retardation4 tests
Epilepsy, hearing loss, and mental retardation syndrome2 tests
Epilepsy, idiopathic generalized 102 tests
Epilepsy, idiopathic generalized 73 tests
Epilepsy, idiopathic generalized 82 tests
Epilepsy, idiopathic generalized 95 tests
Epilepsy, juvenile absence, susceptibility to, 12 tests
Epilepsy, juvenile myoclonic 52 tests
Epilepsy, nocturnal frontal lobe, type 12 tests
Epilepsy, nocturnal frontal lobe, type 32 tests
Epilepsy, nocturnal frontal lobe, type 42 tests
Epilepsy, progressive myoclonic 33 tests
Epilepsy, progressive myoclonic 4, with or without renal failure2 tests
Epilepsy, progressive myoclonic 62 tests
Epilepsy, progressive myoclonic 72 tests
Epilepsy, progressive myoclonic, 92 tests
Epileptic encephalopathy5 tests
Epileptic encephalopathy, childhood-onset3 tests
Epileptic encephalopathy, early infantile, 16 tests
Epileptic encephalopathy, early infantile, 232 tests
Epileptic encephalopathy, early infantile, 243 tests
Epileptic encephalopathy, early infantile, 252 tests
Epileptic encephalopathy, early infantile, 262 tests
Epileptic encephalopathy, early infantile, 274 tests
Epileptic encephalopathy, early infantile, 282 tests
Epileptic encephalopathy, early infantile, 302 tests
Epileptic encephalopathy, early infantile, 312 tests
Epileptic encephalopathy, early infantile, 322 tests
Epileptic encephalopathy, early infantile, 333 tests
Epileptic encephalopathy, early infantile, 364 tests
Epileptic encephalopathy, early infantile, 532 tests
Epileptic encephalopathy, early infantile, 543 tests
Epiphyseal dysplasia, multiple, with myopia and conductive deafness1 test
Episodic ataxia type 16 tests
Episodic ataxia, type 54 tests
Episodic ataxia, type 64 tests
FG syndrome 41 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 febrile seizures 83 tests
Familial hemiplegic migraine type 19 tests
Familial hemiplegic migraine type 24 tests
Familial hemiplegic migraine type 34 tests
Familial hypertrophic cardiomyopathy 11 test
Familial hypokalemia-hypomagnesemia2 tests
Familial infantile myasthenia1 test
Familial isolated deficiency of vitamin E4 tests
Familial juvenile gout1 test
Familial medullary thyroid carcinoma2 tests
Familial temporal lobe epilepsy 13 tests
Fatal infantile hypertonic myofibrillar myopathy2 tests
Febrile seizures, familial, 112 tests
Febrile seizures, familial, 42 tests
Finnish congenital nephrotic syndrome2 tests
Focal cortical dysplasia type II4 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 32 tests
Fukuyama congenital muscular dystrophy4 tests
GLUT1 deficiency syndrome 13 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
Glomerulocystic kidney disease with hyperuricemia and isosthenuria1 test
Goldberg-Shprintzen megacolon syndrome2 tests
Gonadotropin-independent familial sexual precocity1 test
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions2 tests
HSD10 disease2 tests
Hearing impairment1 test
Heimler syndrome 21 test
Hereditary congenital facial paresis 31 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 and autonomic neuropathy type IC2 tests
Hereditary sensory and autonomic neuropathy type IIA2 tests
Hereditary sensory and autonomic neuropathy type IIC3 tests
Hereditary sensory neuropathy type 1D1 test
Hereditary sensory neuropathy type IE1 test
Hereditary spastic paraplegia 104 tests
Hereditary spastic paraplegia 124 tests
Hereditary spastic paraplegia 134 tests
Hereditary spastic paraplegia 155 tests
Hereditary spastic paraplegia 23 tests
Hereditary spastic paraplegia 394 tests
Hereditary spastic paraplegia 3A5 tests
Hereditary spastic paraplegia 5A4 tests
Hereditary spastic paraplegia 64 tests
Hereditary spastic paraplegia 75 tests
Hereditary spastic paraplegia 84 tests
Heterotopia, periventricular, autosomal recessive2 tests
Hirschsprung disease 21 test
Holoprosencephaly 22 tests
Holoprosencephaly 32 tests
Huntington disease2 tests
Hyperaldosteronism, familial, type I1 test
Hyperinsulinemic hypoglycemia, familial, 12 tests
Hyperinsulinism due to glucokinase deficiency2 tests
Hyperinsulinism-hyperammonemia syndrome2 tests
Hyperphosphatasia with mental retardation syndrome 12 tests
Hyperphosphatasia with mental retardation syndrome 22 tests
Hypocalcemia, autosomal dominant 11 test
Hypocalciuric hypercalcemia, familial, type 11 test
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)3 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 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 11 test
Hypokalemic periodic paralysis, type 24 tests
Hypoparathyroidism-deafness-renal disease syndrome1 test
Hystrix-like ichthyosis with deafness1 test
Idiopathic generalized epilepsy1 test
Idiopathic nephrotic syndrome3 tests
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 12 tests
Infantile hypophosphatasia2 tests
Infantile neuroaxonal dystrophy2 tests
Infantile onset spinocerebellar ataxia3 tests
Infantile spasms2 tests
Intellectual disability, autosomal dominant 93 tests
Islet cell hyperplasia2 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 42 tests
Joubert syndrome 52 tests
Joubert syndrome 62 tests
Joubert syndrome 92 tests
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke5 tests
KBG syndrome2 tests
Kabuki syndrome 11 test
Kallmann syndrome 34 tests
Kennedy disease1 test
Keratitis-ichthyosis-deafness syndrome, autosomal dominant1 test
Keratosis follicularis2 tests
Klein-Waardenberg's syndrome1 test
Kniest dysplasia1 test
Knuckle pads, deafness AND leukonychia syndrome1 test
Kohlschutter's syndrome2 tests
Koolen-de Vries syndrome2 tests
Kufor-Rakeb syndrome2 tests
Kugelberg-Welander disease4 tests
L-2-hydroxyglutaric aciduria2 tests
Lafora disease2 tests
Laurence-Moon syndrome3 tests
Leber's optic atrophy1 test
Leigh syndrome2 tests
Leptin receptor deficiency2 tests
Lesch-Nyhan syndrome2 tests
Leucine-induced hypoglycemia2 tests
Leukodystrophy, hypomyelinating, 21 test
Leukodystrophy, hypomyelinating, 43 tests
Leukoencephalopathy with vanishing white matter6 tests
Levy-Hollister syndrome1 test
Liddle syndrome 15 tests
Limb-girdle muscular dystrophy, type 1B1 test
Limb-girdle muscular dystrophy, type 1E2 tests
Limb-girdle muscular dystrophy, type 2A4 tests
Limb-girdle muscular dystrophy, type 2J5 tests
Limb-girdle muscular dystrophy, type 2L3 tests
Limb-girdle muscular dystrophy, type 2Q2 tests
Limb-girdle muscular dystrophy, type 2S2 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C13 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C23 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C33 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C43 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C54 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C92 tests
Lipodystrophy, congenital generalized, type 41 test
Lissencephaly 2, X-linked3 tests
Lissencephaly 32 tests
Lissencephaly 42 tests
Lissencephaly due to LIS1 mutation2 tests
Lissencephaly, X-linked3 tests
Long QT syndrome 22 tests
Luscan-lumish syndrome2 tests
MASA syndrome3 tests
MERRF syndrome3 tests
MYH7-related late-onset scapuloperoneal muscular dystrophy1 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 42 tests
Maturity-onset diabetes of the young type 81 test
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
Megaconial type congenital muscular dystrophy1 test
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
Mental retardation 30, X-linked2 tests
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance2 tests
Mental retardation, X-linked 12 tests
Mental retardation, X-linked 722 tests
Mental retardation, X-linked 962 tests
Mental retardation, X-linked 982 tests
Mental retardation, X-linked, syndromic, Hedera type2 tests
Mental retardation, X-linked, syndromic, wu type2 tests
Mental retardation, autosomal dominant 12 tests
Mental retardation, autosomal dominant 243 tests
Mental retardation, autosomal dominant 313 tests
Mental retardation, autosomal dominant 54 tests
Mental retardation, autosomal dominant 72 tests
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations3 tests
Mental retardation, syndromic, Claes-Jensen type, X-linked2 tests
Mental retardation, with or without seizures, ARX-related, X-linked2 tests
Merosin deficient congenital muscular dystrophy3 tests
Metachromatic leukodystrophy1 test
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy3 tests
Minicore myopathy with external ophthalmoplegia1 test
Mitochondrial DNA depletion syndrome 1 (MNGIE type)2 tests
Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive2 tests
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)1 test
Mitochondrial DNA depletion syndrome 22 tests
Mitochondrial DNA depletion syndrome 4B, MNGIE type4 tests
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)2 tests
Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy3 tests
Mitochondrial DNA-depletion syndrome 3, hepatocerebral2 tests
Mitochondrial complex I deficiency2 tests
Mitochondrial complex III deficiency, nuclear type 11 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 dysplasia (disease)1 test
Muscle eye brain disease4 tests
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency1 test
Muscular dystrophy, limb-girdle, type 2R4 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 tests
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, 131 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 81 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 91 test
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 72 tests
Mutilating keratoderma1 test
Myasthenia, limb-girdle, familial1 test
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency1 test
Myasthenic syndrome, congenital, 182 tests
Myasthenic syndrome, congenital, 2a, slow-channel1 test
Myasthenic syndrome, congenital, 4a, slow-channel1 test
Myasthenic syndrome, congenital, 4b, fast-channel1 test
Myasthenic syndrome, congenital, 81 test
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency1 test
Myasthenic syndrome, slow-channel congenital1 test
Myoclonic dystonia 112 tests
Myoclonic epilepsy, familial infantile2 tests
Myoclonic-atonic epilepsy2 tests
Myofibrillar myopathy 13 tests
Myofibrillar myopathy 34 tests
Myofibrillar myopathy, BAG3-related1 test
Myofibrillar myopathy, ZASP-related2 tests
Myofibrillar myopathy, filamin C-related2 tests
Myopathy with postural muscle atrophy, X-linked4 tests
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset1 test
Myopathy, centronuclear, 21 test
Myopathy, centronuclear, 42 tests
Myopathy, congenital, compton-north1 test
Myopathy, distal, 11 test
Myopathy, distal, 42 tests
Myopathy, early-onset, with fatal cardiomyopathy4 tests
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
Navajo neurohepatopathy2 tests
Nemaline myopathy 11 test
Nemaline myopathy 22 tests
Nemaline myopathy 31 test
Nemaline myopathy 41 test
Nemaline myopathy 51 test
Nemaline myopathy 61 test
Nemaline myopathy 71 test
Nemaline myopathy 81 test
Nephrogenic diabetes insipidus, X-linked2 tests
Nephrogenic diabetes insipidus, autosomal2 tests
Nephronophthisis 11 test
Nephropathy with pretibial epidermolysis bullosa and deafness1 test
Nephrotic syndrome type 152 tests
Nephrotic syndrome, type 32 tests
Nephrotic syndrome, type 42 tests
Nephrotic syndrome, type 5, with or without ocular abnormalities2 tests
Neurodegeneration with brain iron accumulation 53 tests
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant2 tests
Neurofibromatosis, type 13 tests
Neurofibromatosis, type 23 tests
Neuronal ceroid lipofuscinosis 12 tests
Neuronal ceroid lipofuscinosis 102 tests
Neuronal ceroid lipofuscinosis 32 tests
Neuronal ceroid lipofuscinosis 4B2 tests
Neuronal ceroid lipofuscinosis 52 tests
Neuronal ceroid lipofuscinosis 62 tests
Neuronal ceroid lipofuscinosis 72 tests
Neuronal ceroid lipofuscinosis 82 tests
Nocturnal frontal lobe epilepsy2 tests
Non-ketotic hyperglycinemia3 tests
Nonsyndromic hearing loss1 test
Noonan syndrome 11 test
Noonan syndrome 32 tests
Noonan syndrome 42 tests
Noonan syndrome 52 tests
Norman-Roberts syndrome2 tests
Obesity2 tests
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
Paget disease of bone 31 test
Palmoplantar keratoderma-deafness syndrome1 test
Parkinson disease 13 tests
Parkinson disease 23 tests
Parkinson disease 43 tests
Parkinson disease 6, autosomal recessive early-onset3 tests
Parkinson disease 73 tests
Parkinson disease 8, autosomal dominant3 tests
Paroxysmal nonkinesigenic dyskinesia 11 test
Partial albinism1 test
Partington syndrome2 tests
Pelger-Huët anomaly2 tests
Pelizaeus-Merzbacher disease5 tests
Pendred syndrome1 test
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease1 test
Peripheral neuropathy, myopathy, hoarseness, and hearing loss1 test
Periventricular nodular heterotopia 12 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
Pheochromocytoma3 tests
Phosphoglycerate dehydrogenase deficiency2 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 12 tests
Pitt-Hopkins-like syndrome 22 tests
Pituitary hormone deficiency, combined 22 tests
Pituitary hormone deficiency, combined, 12 tests
Polycystic kidney disease 25 tests
Polycystic kidney disease, adult type5 tests
Polyglandular autoimmune syndrome, type 12 tests
Polymicrogyria with optic nerve hypoplasia2 tests
Polymicrogyria, asymmetric2 tests
Polymicrogyria, bilateral frontoparietal2 tests
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract1 test
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 autosomal recessive microcephaly 14 tests
Primary autosomal recessive microcephaly 24 tests
Primary autosomal recessive microcephaly 55 tests
Primary autosomal recessive microcephaly 62 tests
Primary autosomal recessive microcephaly 72 tests
Primary open angle glaucoma1 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 14 tests
Progressive myoclonus epilepsy with ataxia2 tests
Progressive sclerosing poliodystrophy5 tests
Pyridoxal phosphate-responsive seizures3 tests
Pyridoxine-dependent epilepsy2 tests
Pyruvate dehydrogenase complex deficiency1 test
Pyruvate dehydrogenase lipoic acid synthetase deficiency3 tests
RAPH BLOOD GROUP SYSTEM1 test
Renal cysts and diabetes syndrome4 tests
Renal tubular acidosis with progressive nerve deafness1 test
Renpenning syndrome 13 tests
Rett syndrome2 tests
Rett syndrome, congenital variant4 tests
Rigidity and multifocal seizure syndrome, lethal neonatal3 tests
Rippling muscle disease 25 tests
Ritscher-Schinzel syndrome 13 tests
Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked3 tests
SCHIZENCEPHALY2 tests
SLC35A2-CDG5 tests
Saethre-Chotzen syndrome1 test
Salt and pepper developmental regression syndrome3 tests
Sarcotubular myopathy3 tests
Schinzel-Giedion syndrome2 tests
Schwannomatosis 13 tests
Schwartz-Jampel syndrome1 test
Seizures2 tests
Seizures, benign familial infantile, 24 tests
Sensorineural hearing loss1 test
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome11 tests
Severe X-linked myotubular myopathy1 test
Severe achondroplasia with developmental delay and acanthosis nigricans1 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
Short stature, idiopathic, X-linked2 tests
Short stature, idiopathic, autosomal1 test
Shprintzen syndrome1 test
Simpson-Golabi-Behmel syndrome type 12 tests
Sinoatrial node dysfunction and deafness1 test
Smith-Lemli-Opitz syndrome1 test
Smith-Magenis syndrome2 tests
Spastic ataxia 5, autosomal recessive4 tests
Spastic paraplegia 11, autosomal recessive5 tests
Spastic paraplegia 174 tests
Spastic paraplegia 30, autosomal recessive4 tests
Spastic paraplegia 31, autosomal dominant4 tests
Spastic paraplegia 354 tests
Spastic paraplegia 4, autosomal dominant5 tests
Spastic paraplegia 42, autosomal dominant4 tests
Spastic paraplegia 48, autosomal recessive4 tests
Spheroid body myopathy3 tests
Spinal muscular atrophy, X-linked 22 tests
Spinal muscular atrophy, distal, autosomal recessive, 11 test
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant1 test
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant1 test
Spinal muscular atrophy, type II4 tests
Spinal muscular atrophy, type IV4 tests
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome2 tests
Spinocerebellar Ataxia Type 153 tests
Spinocerebellar ataxia 353 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 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 53 tests
Spinocerebellar ataxia type 61 test
Spinocerebellar ataxia type 84 tests
Spinocerebellar ataxia, autosomal recessive 103 tests
Spinocerebellar ataxia, autosomal recessive 113 tests
Spinocerebellar ataxia, autosomal recessive 133 tests
Spinocerebellar ataxia, autosomal recessive 142 tests
Spinocerebellar ataxia, autosomal recessive 83 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
Striatal necrosis, bilateral, and progressive polyneuropathy4 tests
Syndromic X-linked intellectual disability Snyder type2 tests
Syndromic X-linked mental retardation, Cabezas type2 tests
Temtamy preaxial brachydactyly syndrome1 test
Tibial muscular dystrophy4 tests
Tietz syndrome1 test
Torsion dystonia 62 tests
Townes-Brocks syndrome 11 test
Transient neonatal diabetes mellitus 22 tests
Transient neonatal diabetes mellitus 32 tests
Treacher Collins syndrome 11 test
Treacher Collins syndrome 21 test
Treacher Collins syndrome 31 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 III1 test
Usher syndrome type 11 test
Usher syndrome type 1D1 test
Usher syndrome type 1F1 test
Usher syndrome, type 1C1 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
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 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 syndrome, autosomal dominant1 test
X-linked hydrocephalus syndrome3 tests
X-linked intellectual disability-hypotonic face syndrome2 tests
Xeroderma pigmentosum, complementation group b1 test
Xeroderma pigmentosum, group D1 test
Zimmermann-Laband syndrome 21 test
nonsyndromic sensorineural hearing loss1 test
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