Natera, Inc.

General information

Natera, Inc.

201 Industrial Rd, Suite 410
San Carlos
California
United States - 94070
http://www.natera.com/
Organization ID: 500034

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 15814

    Gene

    GeneSubmissionsLast Updated
    ABCB1143Dec 28, 2020
    ABCC8136Dec 28, 2020
    ABCD120Dec 28, 2020
    ACAD927Dec 28, 2020
    ACADM45Dec 28, 2020
    ACADVL59Dec 28, 2020
    ACAT129Dec 28, 2020
    ACOX129Dec 28, 2020
    ACSF3109Dec 28, 2020
    ACYP12Dec 28, 2020
    ADA40Dec 28, 2020
    ADAMTS2120Dec 28, 2020
    ADGRG132Dec 28, 2020
    AGA27Dec 28, 2020
    AGL107Dec 28, 2020
    AGPS27Dec 28, 2020
    AGXT32Dec 28, 2020
    AIRE80Dec 28, 2020
    ALDH3A219Dec 28, 2020
    ALDOB19Dec 28, 2020
    ALG112Dec 28, 2020
    ALG620Dec 28, 2020
    ALMS1214Dec 28, 2020
    ALPL40Dec 28, 2020
    AMT27Dec 28, 2020
    AOPEP64Dec 28, 2020
    APBB12Dec 28, 2020
    AQP214Dec 28, 2020
    AQP5-AS17Dec 28, 2020
    ARSA41Dec 28, 2020
    ARSB30Dec 28, 2020
    ASL25Dec 28, 2020
    ASNS14Dec 28, 2020
    ASPA15Dec 28, 2020
    ASS139Dec 28, 2020
    ATM412Dec 28, 2020
    ATP6V1B132Dec 28, 2020
    ATP6V1B1-AS11Dec 28, 2020
    ATP7A37Dec 28, 2020
    ATP7B161Dec 28, 2020
    ATRX50Dec 28, 2020
    AXDND111Dec 28, 2020
    BBS153Dec 28, 2020
    BBS1035Dec 28, 2020
    BBS1242Dec 28, 2020
    BBS241Dec 28, 2020
    BBS41Dec 28, 2020
    BCKDHA38Dec 28, 2020
    BCKDHB21Dec 28, 2020
    BCS1L17Dec 28, 2020
    BLM187Dec 28, 2020
    BRAF1Dec 28, 2020
    BSND25Dec 28, 2020
    BTD33Dec 28, 2020
    C10orf10535Dec 28, 2020
    C11orf65126Dec 28, 2020
    C17orf10721Dec 28, 2020
    CAPN3112Dec 28, 2020
    CARD141Dec 28, 2020
    CBS76Dec 28, 2020
    CCDC1071Dec 28, 2020
    CCDC401Dec 28, 2020
    CDH23360Dec 28, 2020
    CDH23-AS113Dec 28, 2020
    CDKL56Dec 28, 2020
    CEP290166Dec 28, 2020
    CERKL39Dec 28, 2020
    CFAP923Dec 28, 2020
    CFTR240Dec 28, 2020
    CFTR-AS132Dec 28, 2020
    CHM19Dec 28, 2020
    CHPT13Dec 28, 2020
    CHRNE56Dec 28, 2020
    CIITA135Dec 28, 2020
    CLN327Dec 28, 2020
    CLN548Dec 28, 2020
    CLN830Dec 28, 2020
    CLRN121Dec 28, 2020
    CLRN1-AS14Dec 28, 2020
    CNGB367Dec 28, 2020
    COL4A387Dec 28, 2020
    COL4A487Dec 28, 2020
    COL4A520Dec 28, 2020
    COL7A1288Dec 28, 2020
    CP13Dec 28, 2020
    CPS170Dec 28, 2020
    CPT1A65Dec 28, 2020
    CPT261Dec 28, 2020
    CRB146Dec 28, 2020
    CTNS44Dec 28, 2020
    CTNS-AS122Dec 28, 2020
    CTSK11Dec 28, 2020
    CYBA38Dec 28, 2020
    CYBB14Dec 28, 2020
    CYP11B267Dec 28, 2020
    CYP17A120Dec 28, 2020
    CYP17A1-AS11Dec 28, 2020
    CYP19A133Dec 28, 2020
    CYP27A138Dec 28, 2020
    CZ1P-ASNS14Dec 28, 2020
    DBT2Dec 28, 2020
    DCLRE1C47Dec 28, 2020
    DHCR747Dec 28, 2020
    DHDDS10Dec 28, 2020
    DLD31Dec 28, 2020
    DLG41Dec 28, 2020
    DMD62Dec 28, 2020
    DNAH5285Dec 28, 2020
    DNAI152Dec 28, 2020
    DNAI257Dec 28, 2020
    DYSF238Dec 28, 2020
    EDA4Dec 28, 2020
    EIF2B518Dec 28, 2020
    ELP1219Dec 28, 2020
    EMD11Dec 28, 2020
    ESCO220Dec 28, 2020
    ETFA22Dec 28, 2020
    ETFDH47Dec 28, 2020
    ETHE118Dec 28, 2020
    EVC82Dec 28, 2020
    EVC21Dec 28, 2020
    EYS315Dec 28, 2020
    F1141Dec 28, 2020
    F11-AS19Dec 28, 2020
    F51Dec 28, 2020
    F911Dec 28, 2020
    FAH45Dec 28, 2020
    FAM161A51Dec 28, 2020
    FANCA189Dec 28, 2020
    FANCC96Dec 28, 2020
    FANCG36Dec 28, 2020
    FBXL328Dec 28, 2020
    FH42Dec 28, 2020
    FKRP44Dec 28, 2020
    FMR13Dec 28, 2020
    G6PC119Dec 28, 2020
    GAA148Dec 28, 2020
    GALC65Dec 28, 2020
    GALK124Dec 28, 2020
    GALT33Dec 28, 2020
    GAMT31Dec 28, 2020
    GAREM217Dec 28, 2020
    GATAD110Dec 28, 2020
    GBA19Dec 28, 2020
    GBE146Dec 28, 2020
    GCDH36Dec 28, 2020
    GFM126Dec 28, 2020
    GJB117Dec 28, 2020
    GJB258Dec 28, 2020
    GLA16Dec 28, 2020
    GLDC85Dec 28, 2020
    GLE121Dec 28, 2020
    GML4Dec 28, 2020
    GNE40Dec 28, 2020
    GNPTAB91Dec 28, 2020
    GNPTG51Dec 28, 2020
    GNS17Dec 28, 2020
    GPHN18Dec 28, 2020
    GRHPR29Dec 28, 2020
    HADHA34Dec 28, 2020
    HAX117Dec 28, 2020
    HBA112Dec 28, 2020
    HBA212Dec 28, 2020
    HBB33Dec 28, 2020
    HEXA29Dec 28, 2020
    HEXB26Dec 28, 2020
    HGSNAT39Dec 28, 2020
    HLCS36Dec 28, 2020
    HMGCL30Dec 28, 2020
    HOGA132Dec 28, 2020
    HPS165Dec 28, 2020
    HPS347Dec 28, 2020
    HSD17B432Dec 28, 2020
    HSD3B219Dec 28, 2020
    HYAL116Dec 28, 2020
    HYLS118Dec 28, 2020
    IDS14Dec 28, 2020
    IDUA65Dec 28, 2020
    IL2RG10Dec 28, 2020
    INS2Dec 28, 2020
    IVD28Dec 28, 2020
    KCNJ1133Dec 28, 2020
    KIRREL22Dec 28, 2020
    LCA537Dec 28, 2020
    LDLR81Dec 28, 2020
    LDLR-AS14Dec 28, 2020
    LDLRAP122Dec 28, 2020
    LHX319Dec 28, 2020
    LIFR31Dec 28, 2020
    LIPA26Dec 28, 2020
    LOC1053783113Dec 28, 2020
    LOC1060501027Dec 28, 2020
    LOC10609906220Dec 28, 2020
    LOC10662798119Dec 28, 2020
    LOC10679983467Dec 28, 2020
    LOC10680461212Dec 28, 2020
    LOC10680461312Dec 28, 2020
    LOC10713351033Dec 28, 2020
    LOC1073033435Dec 28, 2020
    LOC1074575854Dec 28, 2020
    LOC1078821262Dec 28, 2020
    LOC11000631914Dec 28, 2020
    LOC1101214712Dec 28, 2020
    LOC1103869511Dec 28, 2020
    LOC1116744634Dec 28, 2020
    LOC11167447214Dec 28, 2020
    LOC1116744754Dec 28, 2020
    LOC1116744779Dec 28, 2020
    LOC1119828691Dec 28, 2020
    LOC1124862235Dec 28, 2020
    LOC1136338751Dec 28, 2020
    LOC1136338771Dec 28, 2020
    LOC1171255942Dec 28, 2020
    LOC1218159741Dec 28, 2020
    LOC1221522965Dec 28, 2020
    LOXHD1155Dec 28, 2020
    LPL23Dec 28, 2020
    LRPPRC51Dec 28, 2020
    MAN2B163Dec 28, 2020
    MCCC156Dec 28, 2020
    MCCC249Dec 28, 2020
    MCOLN141Dec 28, 2020
    MED1738Dec 28, 2020
    MEFV85Dec 28, 2020
    MESP229Dec 28, 2020
    MFF-DT84Dec 28, 2020
    MFSD831Dec 28, 2020
    MIR4713HG33Dec 28, 2020
    MIR68861Dec 28, 2020
    MIR7111Dec 28, 2020
    MKS140Dec 28, 2020
    MLC125Dec 28, 2020
    MMAA42Dec 28, 2020
    MMAB43Dec 28, 2020
    MMACHC52Dec 28, 2020
    MMADHC18Dec 28, 2020
    MMUT50Dec 28, 2020
    MPI24Dec 28, 2020
    MPL30Dec 28, 2020
    MPV1710Dec 28, 2020
    MRPL361Dec 28, 2020
    MTHFR34Dec 28, 2020
    MTM16Dec 28, 2020
    MTRR48Dec 28, 2020
    MTTP35Dec 28, 2020
    MVK6Dec 28, 2020
    MYO7A271Dec 28, 2020
    NADSYN12Dec 28, 2020
    NAGLU35Dec 28, 2020
    NAGS18Dec 28, 2020
    NBN102Dec 28, 2020
    NDRG148Dec 28, 2020
    NDUFAF537Dec 28, 2020
    NDUFS611Dec 28, 2020
    NDUFS72Dec 28, 2020
    NEB628Dec 28, 2020
    NICN12Dec 28, 2020
    NPC176Dec 28, 2020
    NPC215Dec 28, 2020
    NPHS199Dec 28, 2020
    NPHS230Dec 28, 2020
    NR2E365Dec 28, 2020
    NTRK199Dec 28, 2020
    OAT25Dec 28, 2020
    OPA36Dec 28, 2020
    OSGIN21Dec 28, 2020
    OTC12Dec 28, 2020
    PAH108Dec 28, 2020
    PCCA55Dec 28, 2020
    PCCB34Dec 28, 2020
    PCDH15141Dec 28, 2020
    PDHA111Dec 28, 2020
    PDHB18Dec 28, 2020
    PEX148Dec 28, 2020
    PEX1039Dec 28, 2020
    PEX219Dec 28, 2020
    PEX641Dec 28, 2020
    PEX723Dec 28, 2020
    PFKM26Dec 28, 2020
    PHF327Dec 28, 2020
    PHGDH30Dec 28, 2020
    PIRC6633Dec 28, 2020
    PKHD1210Dec 28, 2020
    PLCH21Dec 28, 2020
    PMM225Dec 28, 2020
    POMGNT155Dec 28, 2020
    PPT130Dec 28, 2020
    PROP124Dec 28, 2020
    PSAP62Dec 28, 2020
    PTS10Dec 28, 2020
    PUS128Dec 28, 2020
    PUS318Dec 28, 2020
    PYGM88Dec 28, 2020
    PYY5Dec 28, 2020
    RAB239Dec 28, 2020
    RAG239Dec 28, 2020
    RAPSN56Dec 28, 2020
    RARS232Dec 28, 2020
    RBM481Dec 28, 2020
    RDH1234Dec 28, 2020
    RIF1101Dec 28, 2020
    RMRP46Dec 28, 2020
    RPE6539Dec 28, 2020
    RPGRIP1L110Dec 28, 2020
    RPL36A-HNRNPH216Dec 28, 2020
    RS19Dec 28, 2020
    RTEL1139Dec 28, 2020
    RTEL1-TNFRSF6B139Dec 28, 2020
    SACS174Dec 28, 2020
    SAMHD118Dec 28, 2020
    SCO220Dec 28, 2020
    SEPSECS27Dec 28, 2020
    SGCA39Dec 28, 2020
    SGCB18Dec 28, 2020
    SGCG32Dec 28, 2020
    SGSH59Dec 28, 2020
    SLC12A384Dec 28, 2020
    SLC12A666Dec 28, 2020
    SLC17A528Dec 28, 2020
    SLC22A562Dec 28, 2020
    SLC25A1324Dec 28, 2020
    SLC25A1523Dec 28, 2020
    SLC26A112Dec 28, 2020
    SLC26A112Dec 28, 2020
    SLC26A227Dec 28, 2020
    SLC26A478Dec 28, 2020
    SLC26A4-AS15Dec 28, 2020
    SLC35A316Dec 28, 2020
    SLC37A440Dec 28, 2020
    SLC39A457Dec 28, 2020
    SLC4A1153Dec 28, 2020
    SLC6A89Dec 28, 2020
    SLC7A730Dec 28, 2020
    SMARCAL154Dec 28, 2020
    SMPD138Dec 28, 2020
    SPATA2215Dec 28, 2020
    STAR17Dec 28, 2020
    SUMF127Dec 28, 2020
    SYCE24Dec 28, 2020
    TCIRG1107Dec 28, 2020
    TECPR2121Dec 28, 2020
    TFR241Dec 28, 2020
    TGM196Dec 28, 2020
    TH96Dec 28, 2020
    TLDC21Dec 28, 2020
    TMEM21622Dec 28, 2020
    TPP161Dec 28, 2020
    TRMU33Dec 28, 2020
    TSFM13Dec 28, 2020
    TSPAN144Dec 28, 2020
    TTPA18Dec 28, 2020
    TYMP37Dec 28, 2020
    USH1C59Dec 28, 2020
    USH2A365Dec 28, 2020
    USH2A-AS124Dec 28, 2020
    USH2A-AS222Dec 28, 2020
    VCP4Dec 28, 2020
    VPS13A110Dec 28, 2020
    VPS13B227Dec 28, 2020
    VPS4537Dec 28, 2020
    VRK125Dec 28, 2020
    VSX223Dec 28, 2020
    WNT10A16Dec 28, 2020
    ZDHHC2433Dec 28, 2020
    ZFYVE2612Dec 28, 2020
    ZNF27626Dec 28, 2020

    Condition

    NameSubmissionsLast Updated
    3 beta-Hydroxysteroid dehydrogenase deficiency19Dec 28, 2020
    3-Methylglutaconic aciduria type 36Dec 28, 2020
    3-methylcrotonyl CoA carboxylase 2 deficiency8Dec 28, 2020
    3-methylcrotonyl-CoA carboxylase 1 deficiency14Dec 28, 2020
    6-Pyruvoyl-tetrahydrobiopterin synthase deficiency10Dec 28, 2020
    Abetalipoproteinaemia35Dec 28, 2020
    Achondrogenesis, type IB27Dec 28, 2020
    Achromatopsia67Dec 28, 2020
    Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins33Dec 28, 2020
    Acyl-CoA dehydrogenase family, member 9, deficiency of27Dec 28, 2020
    Adrenoleukodystrophy20Dec 28, 2020
    Adult polyglucosan body disease1Dec 28, 2020
    Agenesis of cerebellar vermis110Dec 28, 2020
    Agenesis of the corpus callosum with peripheral neuropathy66Dec 28, 2020
    Aicardi Goutieres syndrome18Dec 28, 2020
    Alpha thalassemia-X-linked intellectual disability syndrome50Dec 28, 2020
    Alport syndrome158Dec 28, 2020
    Alport syndrome 1, X-linked recessive19Dec 28, 2020
    Alport syndrome 3, autosomal dominant16Dec 28, 2020
    Alstrom syndrome214Dec 28, 2020
    Angiokeratoma corporis diffusum16Dec 28, 2020
    Argininosuccinate lyase deficiency25Dec 28, 2020
    Aromatase deficiency33Dec 28, 2020
    Arthrogryposis multiplex congenita13Dec 28, 2020
    Arthrogryposis, mental retardation, and seizures3Dec 28, 2020
    Asparagine synthetase deficiency14Dec 28, 2020
    Aspartylglucosaminuria27Dec 28, 2020
    Ataxia-telangiectasia syndrome412Dec 28, 2020
    Autosomal dominant familial hypercholesterolemia1Dec 28, 2020
    Autosomal recessive DOPA responsive dystonia96Dec 28, 2020
    Autosomal recessive congenital ichthyosis 196Dec 28, 2020
    Autosomal recessive limb-girdle muscular dystrophy type 2B238Dec 28, 2020
    Autosomal recessive limb-girdle muscular dystrophy type 2D37Dec 28, 2020
    Autosomal recessive limb-girdle muscular dystrophy type 2E17Dec 28, 2020
    Autosomal recessive osteopetrosis 1107Dec 28, 2020
    Autosomal recessive polycystic kidney disease203Dec 28, 2020
    Autosomal recessive retinitis pigmentosa160Dec 28, 2020
    Bardet-Biedl syndrome1Dec 28, 2020
    Bardet-Biedl syndrome 153Dec 28, 2020
    Bardet-Biedl syndrome 1035Dec 28, 2020
    Bardet-Biedl syndrome 1242Dec 28, 2020
    Bardet-Biedl syndrome 241Dec 28, 2020
    Bare lymphocyte syndrome 2135Dec 28, 2020
    Bartter syndrome25Dec 28, 2020
    Becker muscular dystrophy9Jun 10, 2019
    Bifunctional peroxisomal enzyme deficiency32Dec 28, 2020
    Biotinidase deficiency33Dec 28, 2020
    Bloom syndrome186Dec 28, 2020
    CFTR-related disorders25Jun 10, 2019
    Cardiomyopathy9Jun 10, 2019
    Carnitine palmitoyltransferase 1A deficiency65Dec 28, 2020
    Carnitine palmitoyltransferase II deficiency61Dec 28, 2020
    Carpenter syndrome 19Dec 28, 2020
    Ceroid lipofuscinosis neuronal 261Dec 28, 2020
    Charcot-Marie-Tooth disease15Dec 28, 2020
    Charcot-Marie-Tooth disease type 437Dec 28, 2020
    Charcot-Marie-Tooth disease, type 4D11Dec 28, 2020
    Charlevoix-Saguenay spastic ataxia172Dec 28, 2020
    Cholestanol storage disease38Dec 28, 2020
    Cholesterol monooxygenase (side-chain cleaving) deficiency17Dec 28, 2020
    Choreoacanthocytosis110Dec 28, 2020
    Choroideremia19Dec 28, 2020
    Chronic granulomatous disease49Dec 28, 2020
    Chronic granulomatous disease, X-linked3Dec 28, 2020
    Citrullinemia10Dec 28, 2020
    Citrullinemia type I33Dec 28, 2020
    Classic homocystinuria76Dec 28, 2020
    Cobalamin C disease1Dec 28, 2020
    Cohen syndrome227Dec 28, 2020
    Combined malonic and methylmalonic aciduria29Dec 28, 2020
    Combined oxidative phosphorylation deficiency 126Dec 28, 2020
    Combined oxidative phosphorylation deficiency 311Dec 28, 2020
    Congenital amegakaryocytic thrombocytopenia30Dec 28, 2020
    Congenital disorder of glycosylation type 1C20Dec 28, 2020
    Congenital disorder of glycosylation, type Ia25Dec 28, 2020
    Congenital hyperammonemia, type I70Dec 28, 2020
    Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type51Dec 28, 2020
    Congenital myasthenic syndrome112Dec 28, 2020
    Corneal dystrophy-perceptive deafness syndrome53Dec 28, 2020
    Corticosterone 18-monooxygenase deficiency13Dec 28, 2020
    Corticosterone methyl oxidase type II deficiency54Dec 28, 2020
    Creatine deficiency syndrome 19Dec 28, 2020
    Cutis laxa, X-linked19Dec 28, 2020
    Cystic fibrosis215Dec 28, 2020
    Cystinosis44Dec 28, 2020
    Deafness, autosomal recessive 1A58Dec 28, 2020
    Deafness, autosomal recessive 77155Dec 28, 2020
    Decreased plasma carnitine8Dec 28, 2020
    Deficiency of acetyl-CoA acetyltransferase29Dec 28, 2020
    Deficiency of alpha-mannosidase63Dec 28, 2020
    Deficiency of galactokinase24Dec 28, 2020
    Deficiency of guanidinoacetate methyltransferase31Dec 28, 2020
    Deficiency of hyaluronoglucosaminidase16Dec 28, 2020
    Deficiency of hydroxymethylglutaryl-CoA lyase25Dec 28, 2020
    Deficiency of steroid 17-alpha-monooxygenase20Dec 28, 2020
    Distal spinal muscular atrophy, X-linked 319Dec 28, 2020
    Duchenne muscular dystrophy9Jun 10, 2019
    Dyskeratosis congenita112Dec 28, 2020
    Dyskeratosis congenita, autosomal dominant 127Dec 28, 2020
    Dystrophin deficiency67Dec 28, 2020
    Ehlers-Danlos syndrome dermatosparaxis type120Dec 28, 2020
    Ellis-van Creveld syndrome83Dec 28, 2020
    Emery-Dreifuss muscular dystrophy11Dec 28, 2020
    Encephalomyopathy with respiratory failure and lactic acidosis2Dec 28, 2020
    Enhanced S-cone syndrome15Dec 28, 2020
    Epidermolysis bullosa dystrophica48Dec 28, 2020
    Epidermolysis bullosa dystrophica inversa, autosomal recessive225Dec 28, 2020
    Ethylmalonic encephalopathy18Dec 28, 2020
    Factor V deficiency1Dec 28, 2020
    Familial Mediterranean fever78Dec 28, 2020
    Familial cardiofaciocutaneous syndrome1Dec 28, 2020
    Familial dysautonomia215Dec 28, 2020
    Familial hypercholesterolemia100Dec 28, 2020
    Familial hypokalemia-hypomagnesemia84Dec 28, 2020
    Familial isolated deficiency of vitamin E18Dec 28, 2020
    Familial mediterranean fever, autosomal dominant7Dec 28, 2020
    Fanconi anemia3Jun 10, 2019
    Fanconi anemia, complementation group A189Dec 28, 2020
    Fanconi anemia, complementation group C93Dec 28, 2020
    Fanconi anemia, complementation group G36Dec 28, 2020
    Finnish congenital nephrotic syndrome99Dec 28, 2020
    Fragile X syndrome3Dec 28, 2020
    Fumarase deficiency42Dec 28, 2020
    GNE myopathy40Dec 28, 2020
    GRACILE syndrome17Dec 28, 2020
    Galactosemia33Dec 28, 2020
    Galactosylceramide beta-galactosidase deficiency68Dec 28, 2020
    Gaucher disease21Dec 28, 2020
    Generalized dominant dystrophic epidermolysis bullosa12Dec 28, 2020
    Glucose-6-phosphate transport defect39Dec 28, 2020
    Glutaric acidemia type 2A3Dec 28, 2020
    Glutaric acidemia type 2C2Dec 28, 2020
    Glutaric aciduria, type 136Dec 28, 2020
    Glycogen storage disease1Jun 10, 2019
    Glycogen storage disease due to glucose-6-phosphatase deficiency type IA19Dec 28, 2020
    Glycogen storage disease type III107Dec 28, 2020
    Glycogen storage disease, type I1Dec 28, 2020
    Glycogen storage disease, type II148Dec 28, 2020
    Glycogen storage disease, type IV45Dec 28, 2020
    Glycogen storage disease, type V88Dec 28, 2020
    Glycogen storage disease, type VII26Dec 28, 2020
    Goldmann-Favre syndrome50Dec 28, 2020
    Hemochromatosis type 339Dec 28, 2020
    Hemoglobinopathy1Dec 28, 2020
    Hereditary Disorder6Dec 28, 2020
    Hereditary acrodermatitis enteropathica57Dec 28, 2020
    Hereditary factor IX deficiency disease11Dec 28, 2020
    Hereditary fructosuria19Dec 28, 2020
    Hereditary hemochromatosis type 41Dec 28, 2020
    Hereditary hemochromatosis type 51Dec 28, 2020
    Hereditary hyperinsulinism133Dec 28, 2020
    Hereditary insensitivity to pain with anhidrosis99Dec 28, 2020
    Hereditary sensory and autonomic neuropathy3Dec 28, 2020
    Hermansky-Pudlak syndrome112Dec 28, 2020
    Histiocytic medullary reticulosis79Dec 28, 2020
    Holocarboxylase synthetase deficiency36Dec 28, 2020
    Homocystinuria1Jun 10, 2019
    Homocystinuria due to MTHFR deficiency34Dec 28, 2020
    Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type48Dec 28, 2020
    Hurler syndrome1Jun 10, 2019
    Hydrolethalus syndrome18Dec 28, 2020
    Hyperammonemia, type III18Dec 28, 2020
    Hyperlipoproteinemia, type I21Dec 28, 2020
    Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome23Dec 28, 2020
    Hypohidrotic X-linked ectodermal dysplasia4Dec 28, 2020
    Hypophosphatasia40Dec 28, 2020
    Inherited spastic paresis1Dec 28, 2020
    Isovaleryl-CoA dehydrogenase deficiency28Dec 28, 2020
    Joubert syndrome 222Dec 28, 2020
    Juvenile retinoschisis9Dec 28, 2020
    Kostmann syndrome17Dec 28, 2020
    Late-infantile neuronal ceroid lipofuscinosis31Dec 28, 2020
    Late-onset citrullinemia22Dec 28, 2020
    Leber congenital amaurosis321Dec 28, 2020
    Leber congenital amaurosis 51Dec 28, 2020
    Leigh syndrome27Dec 28, 2020
    Lethal arthrogryposis with anterior horn cell disease13Dec 28, 2020
    Lethal congenital contractural syndrome Finnish type8Dec 28, 2020
    Leukoencephalopathy with vanishing white matter18Dec 28, 2020
    Limb-girdle muscular dystrophy, type 2A112Dec 28, 2020
    Limb-girdle muscular dystrophy-dystroglycanopathy, type C543Dec 28, 2020
    Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency39Dec 28, 2020
    Lysinuric protein intolerance30Dec 28, 2020
    Lysosomal acid lipase deficiency26Dec 28, 2020
    MPI-CDG24Dec 28, 2020
    Maple syrup urine disease2Dec 28, 2020
    Maple syrup urine disease type 1A38Dec 28, 2020
    Maple syrup urine disease type 1B21Dec 28, 2020
    Maple syrup urine disease, type 331Dec 28, 2020
    Meckel syndrome type 140Dec 28, 2020
    Medium-chain acyl-coenzyme A dehydrogenase deficiency45Dec 28, 2020
    Megalencephalic leukoencephalopathy with subcortical cysts25Dec 28, 2020
    Menkes kinky-hair syndrome37Dec 28, 2020
    Metachromatic leukodystrophy87Dec 28, 2020
    Metaphyseal chondrodysplasia, McKusick type46Dec 28, 2020
    Methylcrotonyl-CoA carboxylase deficiency83Dec 28, 2020
    Methylmalonic acidemia84Dec 28, 2020
    Methylmalonic acidemia with homocystinuria cblC50Dec 28, 2020
    Methylmalonic acidemia with homocystinuria cblD18Dec 28, 2020
    Methylmalonic aciduria1Jun 10, 2019
    Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency50Dec 28, 2020
    Microcephaly, normal intelligence and immunodeficiency102Dec 28, 2020
    Microcephaly, postnatal progressive, with seizures and brain atrophy38Dec 28, 2020
    Microphthalmia23Dec 28, 2020
    Mitochondrial DNA depletion syndrome, hepatocerebral form1Dec 28, 2020
    Mitochondrial complex I deficiency21Dec 28, 2020
    Mitochondrial myopathy8Dec 28, 2020
    Mitochondrial myopathy and sideroblastic anemia3Dec 28, 2020
    Mitochondrial neurogastrointestinal encephalomyopathy35Dec 28, 2020
    Mucolipidosis type II91Dec 28, 2020
    Mucolipidosis type III gamma51Dec 28, 2020
    Mucolipidosis type IV41Dec 28, 2020
    Mucopolysaccharidosis type 163Dec 28, 2020
    Mucopolysaccharidosis type 630Dec 28, 2020
    Mucopolysaccharidosis, MPS-II14Dec 28, 2020
    Mucopolysaccharidosis, MPS-III-A59Dec 28, 2020
    Mucopolysaccharidosis, MPS-III-B35Dec 28, 2020
    Mucopolysaccharidosis, MPS-III-C39Dec 28, 2020
    Multiple acyl-CoA dehydrogenase deficiency64Dec 28, 2020
    Multiple sulfatase deficiency27Dec 28, 2020
    Muscle eye brain disease55Dec 28, 2020
    Myopathy, lactic acidosis, and sideroblastic anemia 117Dec 28, 2020
    Navajo neurohepatopathy9Dec 28, 2020
    Nemaline myopathy 2628Dec 28, 2020
    Nephrogenic diabetes insipidus13Dec 28, 2020
    Neuronal ceroid lipofuscinosis41Dec 28, 2020
    Neuronal ceroid lipofuscinosis 130Dec 28, 2020
    Neuronal ceroid lipofuscinosis 34Jun 10, 2019
    Neuronal ceroid lipofuscinosis 541Dec 28, 2020
    Neuronal ceroid lipofuscinosis 819Dec 28, 2020
    Neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers1Dec 28, 2020
    Niemann-Pick disease type C176Dec 28, 2020
    Niemann-Pick disease, type A1Jun 10, 2019
    Niemann-Pick disease, type C215Dec 28, 2020
    Non-acquired combined pituitary hormone deficiency with spine abnormalities1Dec 28, 2020
    Non-ketotic hyperglycinemia112Dec 28, 2020
    Ornithine aminotransferase deficiency25Dec 28, 2020
    Ornithine carbamoyltransferase deficiency12Dec 28, 2020
    Pendred syndrome78Dec 28, 2020
    Permanent neonatal diabetes mellitus32Dec 28, 2020
    Peroxisomal acyl-CoA oxidase deficiency29Dec 28, 2020
    Phenylketonuria108Dec 28, 2020
    Phosphoglycerate dehydrogenase deficiency30Dec 28, 2020
    Pituitary hormone deficiency, combined18Dec 28, 2020
    Pituitary hormone deficiency, combined 224Dec 28, 2020
    Plasma factor XI deficiency41Dec 28, 2020
    Polycystic kidney dysplasia6Jun 10, 2019
    Polyglandular autoimmune syndrome, type 180Dec 28, 2020
    Polymicrogyria, bilateral frontoparietal32Dec 28, 2020
    Pontocerebellar hypoplasia type 124Dec 28, 2020
    Pontocerebellar hypoplasia type 1A1Dec 28, 2020
    Pontocerebellar hypoplasia type 2D27Dec 28, 2020
    Pontocerebellar hypoplasia type 632Dec 28, 2020
    Primary ciliary dyskinesia394Dec 28, 2020
    Primary hyperoxaluria, type I32Dec 28, 2020
    Primary hyperoxaluria, type II29Dec 28, 2020
    Primary hyperoxaluria, type III32Dec 28, 2020
    Progressive familial intrahepatic cholestasis 243Dec 28, 2020
    Propionic acidemia89Dec 28, 2020
    Pyknodysostosis11Dec 28, 2020
    Pyruvate dehydrogenase complex deficiency28Dec 28, 2020
    Pyruvate dehydrogenase phosphatase deficiency1Dec 28, 2020
    Recessive dystrophic epidermolysis bullosa3Dec 28, 2020
    Renal carnitine transport defect54Dec 28, 2020
    Renal tubular acidosis with progressive nerve deafness32Dec 28, 2020
    Retinitis pigmentosa132Dec 28, 2020
    Retinitis pigmentosa 2546Dec 28, 2020
    Retinitis pigmentosa 2632Dec 28, 2020
    Retinitis pigmentosa 2835Dec 28, 2020
    Retinitis pigmentosa 5910Dec 28, 2020
    Rhizomelic chondrodysplasia punctata29Dec 28, 2020
    Rhizomelic chondrodysplasia punctata type 116Dec 28, 2020
    Rhizomelic chondrodysplasia punctata type 35Dec 28, 2020
    Roberts-SC phocomelia syndrome20Dec 28, 2020
    Salla disease28Dec 28, 2020
    Sandhoff disease26Dec 28, 2020
    Sanfilippo syndrome17Dec 28, 2020
    Schimke immuno-osseous dysplasia54Dec 28, 2020
    Schopf-Schulz-Passarge syndrome16Dec 28, 2020
    Severe X-linked myotubular myopathy6Dec 28, 2020
    Severe autosomal recessive muscular dystrophy of childhood - North African type32Dec 28, 2020
    Severe combined immunodeficiency due to ADA deficiency40Dec 28, 2020
    Severe combined immunodeficiency, athabascan-type7Dec 28, 2020
    Severe congenital neutropenia 5, autosomal recessive37Dec 28, 2020
    Sideroblastic anemia8Dec 28, 2020
    Sjögren-Larsson syndrome19Dec 28, 2020
    Smith-Lemli-Opitz syndrome49Dec 28, 2020
    Spastic paraplegia 49, autosomal recessive120Dec 28, 2020
    Sphingomyelin/cholesterol lipidosis36Dec 28, 2020
    Spinal muscular atrophy2Dec 28, 2020
    Spondylocostal dysostosis 2, autosomal recessive29Dec 28, 2020
    Spongy degeneration of central nervous system15Dec 28, 2020
    Steroid-resistant nephrotic syndrome30Dec 28, 2020
    Stüve-Wiedemann syndrome31Dec 28, 2020
    Tay-Sachs disease29Dec 28, 2020
    Tyrosinemia1Jun 10, 2019
    Tyrosinemia type I44Dec 28, 2020
    Usher Syndrome, Type III2Dec 28, 2020
    Usher syndrome type 1360Dec 28, 2020
    Usher syndrome type 1B271Dec 28, 2020
    Usher syndrome type 1F141Dec 28, 2020
    Usher syndrome, type 1C59Dec 28, 2020
    Usher syndrome, type 2A365Dec 28, 2020
    Usher syndrome, type 3A19Dec 28, 2020
    Very long chain acyl-CoA dehydrogenase deficiency59Dec 28, 2020
    Vitamin B12-responsive methylmalonic acidemia type cblA38Dec 28, 2020
    Vitamin B12-responsive methylmalonic acidemia type cblB42Dec 28, 2020
    Wilson disease161Dec 28, 2020
    X-linked severe combined immunodeficiency10Dec 28, 2020
    Zellweger spectrum disorders147Dec 28, 2020
    alpha Thalassemia24Dec 28, 2020
    beta Thalassemia32Dec 28, 2020

    Testing in GTR

    Disease nameNumber of tests
    3 beta-Hydroxysteroid dehydrogenase deficiency4 tests
    3-Methylglutaconic aciduria type 36 tests
    3-methylcrotonyl CoA carboxylase 2 deficiency4 tests
    3-methylcrotonyl-CoA carboxylase 1 deficiency4 tests
    3-phosphoglycerate dehydrogenase deficiency9 tests
    5p partial monosomy syndrome1 test
    Abetalipoproteinaemia9 tests
    Achondrogenesis, type IB7 tests
    Achromatopsia 34 tests
    Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins6 tests
    Acyl-CoA dehydrogenase family, member 9, deficiency of4 tests
    Adrenoleukodystrophy7 tests
    Agenesis of the corpus callosum with peripheral neuropathy7 tests
    Aicardi Goutieres syndrome4 tests
    Alport syndrome 1, X-linked recessive3 tests
    Alport syndrome 3, autosomal dominant9 tests
    Alstrom syndrome4 tests
    Angelman syndrome1 test
    Angiokeratoma corporis diffusum3 tests
    Anomaly of sex chromosome2 tests
    Argininosuccinate lyase deficiency7 tests
    Aromatase deficiency4 tests
    Arthrogryposis, mental retardation, and seizures9 tests
    Asparagine synthetase deficiency6 tests
    Aspartylglucosaminuria7 tests
    Ataxia-telangiectasia syndrome9 tests
    Autosomal chromosomal disorder2 tests
    Autosomal recessive DOPA responsive dystonia7 tests
    Autosomal recessive congenital ichthyosis 17 tests
    Autosomal recessive limb-girdle muscular dystrophy type 2B6 tests
    Autosomal recessive limb-girdle muscular dystrophy type 2D7 tests
    Autosomal recessive limb-girdle muscular dystrophy type 2E7 tests
    Autosomal recessive osteopetrosis 14 tests
    Autosomal recessive polycystic kidney disease16 tests
    BH4-deficient hyperphenylalaninemia A7 tests
    Bardet-Biedl syndrome 17 tests
    Bardet-Biedl syndrome 107 tests
    Bardet-Biedl syndrome 124 tests
    Bardet-Biedl syndrome 25 tests
    Bare lymphocyte syndrome type 2, complementation group A4 tests
    Bartter syndrome4 tests
    Becker muscular dystrophy22 tests
    Bifunctional peroxisomal enzyme deficiency7 tests
    Biotinidase deficiency7 tests
    Bloom syndrome11 tests
    Carnitine palmitoyltransferase 1A deficiency7 tests
    Carnitine palmitoyltransferase II deficiency9 tests
    Carpenter syndrome4 tests
    Ceroid lipofuscinosis neuronal 27 tests
    Ceroid lipofuscinosis, neuronal, 6A7 tests
    Charcot-Marie-Tooth disease3 tests
    Charcot-Marie-Tooth disease, type 4D4 tests
    Charlevoix-Saguenay spastic ataxia3 tests
    Cholestanol storage disease9 tests
    Choreoacanthocytosis6 tests
    Choroideremia3 tests
    Chromosome 16-related alpha-thalassemia/mental retardation syndrome3 tests
    Chromosome 1p36 deletion syndrome1 test
    Chromosome 22q deletion1 test
    Chronic granulomatous disease, X-linked6 tests
    Chronic granulomatous disease, autosomal, due to deficiency of CYBA6 tests
    Ciliary dyskinesia, primary, 36 tests
    Ciliary dyskinesia, primary, 96 tests
    Ciliopathy4 tests
    Citrin deficiency7 tests
    Citrullinemia type I11 tests
    Classic homocystinuria7 tests
    Cobalamin C disease11 tests
    Cohen syndrome4 tests
    Combined malonic and methylmalonic aciduria4 tests
    Combined oxidative phosphorylation deficiency 14 tests
    Combined oxidative phosphorylation deficiency 34 tests
    Complete trisomy 13 syndrome1 test
    Complete trisomy 18 syndrome1 test
    Complete trisomy 21 syndrome1 test
    Congenital amegakaryocytic thrombocytopenia9 tests
    Congenital chromosomal disease1 test
    Congenital disorder of glycosylation type 1C4 tests
    Congenital disorder of glycosylation, type I2 tests
    Congenital disorder of glycosylation, type Ia7 tests
    Congenital hyperammonemia, type I4 tests
    Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type7 tests
    Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A49 tests
    Congenital myasthenic syndrome 4C9 tests
    Corneal dystrophy-perceptive deafness syndrome4 tests
    Corticosterone 18-monooxygenase deficiency6 tests
    Corticosterone methyloxidase type 2 deficiency6 tests
    Creatine transporter deficiency3 tests
    Cystic fibrosis32 tests
    Cystinosis9 tests
    Deafness, autosomal recessive 776 tests
    Decreased plasma carnitine7 tests
    Deficiency of acetyl-CoA acetyltransferase4 tests
    Deficiency of alpha-mannosidase7 tests
    Deficiency of galactokinase4 tests
    Deficiency of guanidinoacetate methyltransferase4 tests
    Deficiency of hyaluronoglucosaminidase4 tests
    Deficiency of hydroxymethylglutaryl-CoA lyase7 tests
    Deficiency of steroid 17-alpha-monooxygenase4 tests
    Dizygotic twins1 test
    Duchenne muscular dystrophy22 tests
    Dyskeratosis congenita, autosomal recessive, 57 tests
    Ehlers-Danlos syndrome dermatosparaxis type9 tests
    Ellis-van Creveld syndrome4 tests
    Emery-Dreifuss muscular dystrophy 1, X-linked3 tests
    Enhanced S-cone syndrome6 tests
    Epidermolysis bullosa dystrophica4 tests
    Ethylmalonic encephalopathy7 tests
    Familial Mediterranean fever6 tests
    Familial dysautonomia16 tests
    Familial hypercholesterolemia1 test
    Familial hypercholesterolemia 15 tests
    Familial hypercholesterolemia 44 tests
    Familial hypokalemia-hypomagnesemia4 tests
    Familial isolated deficiency of vitamin E7 tests
    Fanconi anemia, complementation group A6 tests
    Fanconi anemia, complementation group C11 tests
    Fanconi anemia, complementation group G4 tests
    Finnish congenital nephrotic syndrome7 tests
    Fragile X syndrome16 tests
    Fumarase deficiency7 tests
    GM1 gangliosidosis7 tests
    GNE myopathy9 tests
    GRACILE syndrome7 tests
    Galactosemia16 tests
    Galactosylceramide beta-galactosidase deficiency7 tests
    Gaucher disease16 tests
    Glucose-6-phosphate transport defect7 tests
    Glutaric acidemia IIA4 tests
    Glutaric acidemia IIC4 tests
    Glutaric aciduria, type 17 tests
    Glycogen storage disease due to glucose-6-phosphatase deficiency type IA11 tests
    Glycogen storage disease type III9 tests
    Glycogen storage disease, type II9 tests
    Glycogen storage disease, type IV6 tests
    Glycogen storage disease, type V6 tests
    Glycogen storage disease, type VII6 tests
    Hemochromatosis type 2A4 tests
    Hemochromatosis type 34 tests
    Hemoglobinopathy16 tests
    Hereditary acrodermatitis enteropathica4 tests
    Hereditary disease1 test
    Hereditary factor IX deficiency disease3 tests
    Hereditary factor XI deficiency disease6 tests
    Hereditary fructosuria7 tests
    Hereditary insensitivity to pain with anhidrosis6 tests
    Hermansky-Pudlak syndrome 14 tests
    Hermansky-Pudlak syndrome 39 tests
    Histiocytic medullary reticulosis6 tests
    Holocarboxylase synthetase deficiency4 tests
    Homocystinuria due to MTHFR deficiency6 tests
    Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type4 tests
    Hydrolethalus syndrome4 tests
    Hyperammonemia, type III4 tests
    Hyperinsulinemic hypoglycemia, familial, 19 tests
    Hyperinsulinemic hypoglycemia, familial, 24 tests
    Hyperlipoproteinemia, type I4 tests
    Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome7 tests
    Hypohidrotic X-linked ectodermal dysplasia3 tests
    Hypophosphatasia7 tests
    Isovaleryl-CoA dehydrogenase deficiency11 tests
    Joubert syndrome 29 tests
    Juvenile retinoschisis3 tests
    Kartagener syndrome6 tests
    Kidney Transplant Rejection1 test
    Kostmann syndrome4 tests
    Leber congenital amaurosis4 tests
    Leber congenital amaurosis 26 tests
    Lethal congenital contracture syndrome 14 tests
    Leukoencephalopathy with vanishing white matter7 tests
    Limb-girdle muscular dystrophy, type 2A7 tests
    Limb-girdle muscular dystrophy-dystroglycanopathy, type C54 tests
    Lipoid adrenal hyperplasia4 tests
    Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency7 tests
    Lysinuric protein intolerance7 tests
    METHYLMALONIC ACIDURIA, mut(0) TYPE4 tests
    MPI-CDG7 tests
    Maple syrup urine disease type 1A7 tests
    Maple syrup urine disease type 1B9 tests
    Maple syrup urine disease, type 39 tests
    Meckel syndrome type 14 tests
    Meckel syndrome, type 29 tests
    Medium-chain acyl-coenzyme A dehydrogenase deficiency16 tests
    Megalencephalic leukoencephalopathy with subcortical cysts9 tests
    Menkes kinky-hair syndrome3 tests
    Metachromatic leukodystrophy9 tests
    Metaphyseal chondrodysplasia, McKusick type7 tests
    Methylmalonic acidemia with homocystinuria cblD4 tests
    Microcephaly, normal intelligence and immunodeficiency7 tests
    Microcephaly, postnatal progressive, with seizures and brain atrophy4 tests
    Microphthalmia, isolated 26 tests
    Mitochondrial complex I deficiency6 tests
    Mitochondrial myopathy and sideroblastic anemia6 tests
    Mitochondrial neurogastrointestinal encephalomyopathy6 tests
    Mucolipidosis type III gamma4 tests
    Mucolipidosis type IV11 tests
    Mucopolysaccharidosis type 111 tests
    Mucopolysaccharidosis type 64 tests
    Mucopolysaccharidosis, MPS-II3 tests
    Mucopolysaccharidosis, MPS-III-A7 tests
    Mucopolysaccharidosis, MPS-III-B4 tests
    Mucopolysaccharidosis, MPS-III-C4 tests
    Mucopolysaccharidosis, MPS-III-D4 tests
    Mucopolysaccharidosis, MPS-IV-B7 tests
    Multiple congenital anomalies1 test
    Multiple sulfatase deficiency9 tests
    Muscle eye brain disease7 tests
    Navajo neurohepatopathy4 tests
    Nemaline myopathy9 tests
    Nephrogenic diabetes insipidus, autosomal4 tests
    Nephrotic syndrome, type 27 tests
    Neuronal ceroid lipofuscinosis 17 tests
    Neuronal ceroid lipofuscinosis 311 tests
    Neuronal ceroid lipofuscinosis 57 tests
    Neuronal ceroid lipofuscinosis 74 tests
    Neuronal ceroid lipofuscinosis 87 tests
    Niemann-Pick disease type C17 tests
    Niemann-Pick disease, type A11 tests
    Niemann-Pick disease, type C24 tests
    Niemann-Pick disease, type D7 tests
    Non-acquired combined pituitary hormone deficiency with spine abnormalities4 tests
    Non-ketotic hyperglycinemia7 tests
    Nonsyndromic Deafness9 tests
    Ornithine aminotransferase deficiency6 tests
    Ornithine carbamoyltransferase deficiency6 tests
    Pendred syndrome7 tests
    Peroxisomal acyl-CoA oxidase deficiency4 tests
    Peroxisome biogenesis disorder11 tests
    Phenylketonuria9 tests
    Pituitary hormone deficiency, combined 27 tests
    Polyglandular autoimmune syndrome, type 16 tests
    Polymicrogyria, bilateral frontoparietal4 tests
    Pontocerebellar hypoplasia type 1A6 tests
    Pontocerebellar hypoplasia type 2D6 tests
    Pontocerebellar hypoplasia type 66 tests
    Prader-Willi syndrome1 test
    Primary hyperoxaluria, type I7 tests
    Primary hyperoxaluria, type II7 tests
    Primary hyperoxaluria, type III6 tests
    Progressive familial intrahepatic cholestasis 24 tests
    Propionic acidemia7 tests
    Pseudo-Hurler polydystrophy7 tests
    Pulmonary fibrosis and/or bone marrow failure, telomere-related, 12 tests
    Pyknodysostosis7 tests
    Pyruvate dehydrogenase E1-alpha deficiency3 tests
    Pyruvate dehydrogenase E1-beta deficiency4 tests
    Recurrent pregnancy loss 41 test
    Renal tubular acidosis with progressive nerve deafness6 tests
    Retinal dystrophy4 tests
    Retinitis pigmentosa 256 tests
    Retinitis pigmentosa 266 tests
    Retinitis pigmentosa 286 tests
    Retinitis pigmentosa 599 tests
    Rhizomelic chondrodysplasia punctata type 111 tests
    Rhizomelic chondrodysplasia punctata type 34 tests
    Roberts-SC phocomelia syndrome4 tests
    SLC35A2-CDG2 tests
    Salla disease7 tests
    Sandhoff disease7 tests
    Schimke immuno-osseous dysplasia4 tests
    Schopf-Schulz-Passarge syndrome4 tests
    Severe X-linked myotubular myopathy3 tests
    Severe autosomal recessive muscular dystrophy of childhood - North African type7 tests
    Severe combined immunodeficiency due to ADA deficiency7 tests
    Severe combined immunodeficiency due to DCLRE1C deficiency7 tests
    Severe congenital neutropenia 5, autosomal recessive4 tests
    Sjögren-Larsson syndrome7 tests
    Smith-Lemli-Opitz syndrome16 tests
    Solid tumor1 test
    Spastic paraplegia 49, autosomal recessive6 tests
    Sphingolipid activator protein 1 deficiency4 tests
    Spinal muscular atrophy32 tests
    Spondylocostal dysostosis 2, autosomal recessive4 tests
    Spongy degeneration of central nervous system16 tests
    Spontaneous abortion1 test
    Stüve-Wiedemann syndrome4 tests
    Tay-Sachs disease27 tests
    Triploidy1 test
    Turner syndrome1 test
    Twinning, monozygotic1 test
    Tyrosinemia type I11 tests
    Usher Syndrome, Type III9 tests
    Usher syndrome type 1B7 tests
    Usher syndrome type 1D7 tests
    Usher syndrome type 1F9 tests
    Usher syndrome, type 1C7 tests
    Usher syndrome, type 2A9 tests
    Very long chain acyl-CoA dehydrogenase deficiency7 tests
    Vitamin B12-responsive methylmalonic acidemia type cblA4 tests
    Vitamin B12-responsive methylmalonic acidemia type cblB4 tests
    Wilson disease9 tests
    Wolman disease6 tests
    X-linked severe combined immunodeficiency5 tests
    alpha Thalassemia16 tests
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