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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: 36202

    Gene

    GeneSubmissionsLast Updated
    ABCB1176Feb 9, 2022
    ABCC8197Feb 9, 2022
    ABCD191Feb 9, 2022
    ACAD961Feb 9, 2022
    ACADM126Feb 9, 2022
    ACADVL145Feb 9, 2022
    ACAT157Feb 9, 2022
    ACOX143Feb 9, 2022
    ACSF3152Feb 9, 2022
    ACYP12Dec 28, 2020
    ADA80Feb 9, 2022
    ADAMTS2252Feb 9, 2022
    ADGRG162Feb 9, 2022
    AGA50Feb 9, 2022
    AGA-DT10Feb 9, 2022
    AGL328Feb 9, 2022
    AGPS39Feb 9, 2022
    AGXT68Feb 9, 2022
    AIRE173Feb 9, 2022
    ALDH3A234Feb 9, 2022
    ALDOB39Feb 9, 2022
    ALG112Dec 28, 2020
    ALG639Feb 9, 2022
    ALMS1626Feb 9, 2022
    ALPL87Feb 9, 2022
    AMT75Feb 9, 2022
    AOPEP205Feb 9, 2022
    APBB12Dec 28, 2020
    AQP226Feb 9, 2022
    AQP5-AS112Feb 9, 2022
    ARSA91Feb 9, 2022
    ARSB57Feb 9, 2022
    ASL80Feb 9, 2022
    ASNS32Feb 9, 2022
    ASPA41Feb 9, 2022
    ASS1103Feb 9, 2022
    ATM1270Feb 9, 2022
    ATP6V1B162Feb 9, 2022
    ATP6V1B1-AS11Dec 28, 2020
    ATP7A119Feb 9, 2022
    ATP7B293Feb 9, 2022
    ATRX167Feb 9, 2022
    AXDND115Feb 9, 2022
    BBS1121Feb 9, 2022
    BBS1095Feb 9, 2022
    BBS1297Feb 9, 2022
    BBS2101Feb 9, 2022
    BBS41Dec 28, 2020
    BCKDHA83Feb 9, 2022
    BCKDHB62Feb 9, 2022
    BCS1L31Feb 9, 2022
    BLM650Feb 9, 2022
    BRAF1Dec 28, 2020
    BSND44Feb 9, 2022
    BTD69Feb 9, 2022
    C10orf10576Feb 9, 2022
    C11orf65403Feb 9, 2022
    C12orf2913Feb 9, 2022
    C17orf10769Feb 9, 2022
    CAPN3223Feb 9, 2022
    CARD141Dec 28, 2020
    CBS152Feb 9, 2022
    CCDC1071Dec 28, 2020
    CCDC401Dec 28, 2020
    CDH23747Feb 9, 2022
    CDH23-AS127Feb 9, 2022
    CDKL517Feb 9, 2022
    CEP290399Feb 9, 2022
    CERKL101Feb 9, 2022
    CFAP9210Feb 9, 2022
    CFTR904Feb 9, 2022
    CFTR-AS188Feb 9, 2022
    CHM49Feb 9, 2022
    CHPT14Feb 9, 2022
    CHRNE137Feb 9, 2022
    CIITA243Feb 9, 2022
    CLN327Dec 28, 2020
    CLN5114Feb 9, 2022
    CLN882Feb 9, 2022
    CLRN135Feb 9, 2022
    CLRN1-AS14Dec 28, 2020
    CNGB3143Feb 9, 2022
    COL4A3159Feb 9, 2022
    COL4A4175Feb 9, 2022
    COL4A592Feb 9, 2022
    COL7A1419Feb 9, 2022
    CP21Feb 9, 2022
    CPS1135Feb 9, 2022
    CPT1A106Feb 9, 2022
    CPT2131Feb 9, 2022
    CRB1156Feb 9, 2022
    CTNS66Feb 9, 2022
    CTNS-AS131Feb 9, 2022
    CTSK19Feb 9, 2022
    CYBA74Feb 9, 2022
    CYBB52Feb 9, 2022
    CYP11B284Feb 9, 2022
    CYP17A137Feb 9, 2022
    CYP17A1-AS12Feb 9, 2022
    CYP19A144Feb 9, 2022
    CYP27A193Feb 9, 2022
    CZ1P-ASNS32Feb 9, 2022
    DBT2Dec 28, 2020
    DCLRE1C121Feb 9, 2022
    DHCR7143Feb 9, 2022
    DHDDS31Feb 9, 2022
    DLD43Feb 9, 2022
    DLG42Feb 9, 2022
    DMD1208Feb 9, 2022
    DNAH5596Feb 9, 2022
    DNAI1104Feb 9, 2022
    DNAI2105Feb 9, 2022
    DVL21Feb 9, 2022
    DYSF530Feb 9, 2022
    EDA23Feb 9, 2022
    EIF2B540Feb 9, 2022
    ELP1401Feb 9, 2022
    EMD54Feb 9, 2022
    ESCO243Feb 9, 2022
    ETFA35Feb 9, 2022
    ETFDH86Feb 9, 2022
    ETHE135Feb 9, 2022
    EVC141Feb 9, 2022
    EVC21Dec 28, 2020
    EYS625Feb 9, 2022
    F1170Feb 9, 2022
    F11-AS116Feb 9, 2022
    F51Dec 28, 2020
    F940Feb 9, 2022
    FAH81Feb 9, 2022
    FAM161A108Feb 9, 2022
    FANCA553Feb 9, 2022
    FANCC287Feb 9, 2022
    FANCG94Feb 9, 2022
    FBXL363Feb 9, 2022
    FH147Feb 9, 2022
    FKRP131Feb 9, 2022
    FKTN109Feb 9, 2022
    FMR15Feb 9, 2022
    FRAXA1Feb 9, 2022
    G6PC166Feb 9, 2022
    GAA416Feb 9, 2022
    GALC123Feb 9, 2022
    GALK141Feb 9, 2022
    GALT105Feb 9, 2022
    GAMT91Feb 9, 2022
    GAREM247Feb 9, 2022
    GATAD158Feb 9, 2022
    GBA160Feb 9, 2022
    GBE174Feb 9, 2022
    GCDH83Feb 9, 2022
    GFM155Feb 9, 2022
    GJB133Feb 9, 2022
    GJB2103Feb 9, 2022
    GLA44Feb 9, 2022
    GLDC215Feb 9, 2022
    GLE137Feb 9, 2022
    GML5Feb 9, 2022
    GNE89Feb 9, 2022
    GNPTAB141Feb 9, 2022
    GNPTG112Feb 9, 2022
    GNS39Feb 9, 2022
    GPHN74Feb 9, 2022
    GRHPR52Feb 9, 2022
    HADHA79Feb 9, 2022
    HAX145Feb 9, 2022
    HBA121Feb 9, 2022
    HBA234Feb 9, 2022
    HBB135Feb 9, 2022
    HEXA114Feb 9, 2022
    HEXB55Feb 9, 2022
    HGSNAT104Feb 9, 2022
    HJV21Feb 9, 2022
    HLCS74Feb 9, 2022
    HMGCL51Feb 9, 2022
    HNRNPH21Feb 9, 2022
    HOGA149Feb 9, 2022
    HPS193Feb 9, 2022
    HPS367Feb 9, 2022
    HSD17B462Feb 9, 2022
    HSD3B242Feb 9, 2022
    HYAL124Feb 9, 2022
    HYLS124Feb 9, 2022
    IDS58Feb 9, 2022
    IDUA193Feb 9, 2022
    IL2RG37Feb 9, 2022
    INS2Dec 28, 2020
    ITGA41Feb 9, 2022
    ITGB41Feb 9, 2022
    IVD72Feb 9, 2022
    KCNJ1147Feb 9, 2022
    KIRREL214Feb 9, 2022
    LCA5102Feb 9, 2022
    LDLR196Feb 9, 2022
    LDLR-AS18Feb 9, 2022
    LDLRAP149Feb 9, 2022
    LHX328Feb 9, 2022
    LIFR59Feb 9, 2022
    LIPA53Feb 9, 2022
    LOC1053783114Feb 9, 2022
    LOC10605010236Feb 9, 2022
    LOC106099062108Feb 9, 2022
    LOC10662798156Feb 9, 2022
    LOC10679983484Feb 9, 2022
    LOC10680461234Feb 9, 2022
    LOC10680461320Feb 9, 2022
    LOC1070328251Feb 9, 2022
    LOC107133510135Feb 9, 2022
    LOC10730334311Feb 9, 2022
    LOC1074575857Feb 9, 2022
    LOC1078821263Feb 9, 2022
    LOC11000631929Feb 9, 2022
    LOC1101214712Dec 28, 2020
    LOC1103869511Dec 28, 2020
    LOC1116744637Feb 9, 2022
    LOC11167447272Feb 9, 2022
    LOC11167447528Feb 9, 2022
    LOC11167447733Feb 9, 2022
    LOC1119828697Feb 9, 2022
    LOC11248622316Feb 9, 2022
    LOC1136338751Dec 28, 2020
    LOC1136338773Feb 9, 2022
    LOC1136641068Feb 9, 2022
    LOC1136871756Feb 9, 2022
    LOC1171255945Feb 9, 2022
    LOC1218159741Dec 28, 2020
    LOC12215229611Feb 9, 2022
    LOC12395621015Feb 9, 2022
    LOXHD1246Feb 9, 2022
    LPL54Feb 9, 2022
    LRPPRC85Feb 9, 2022
    MAN2B1117Feb 9, 2022
    MCCC1105Feb 9, 2022
    MCCC282Feb 9, 2022
    MCOLN190Feb 9, 2022
    MED1744Feb 9, 2022
    MEFV213Feb 9, 2022
    MESP249Feb 9, 2022
    MFF-DT154Feb 9, 2022
    MFSD895Feb 9, 2022
    MIR4713HG44Feb 9, 2022
    MIR68861Dec 28, 2020
    MIR7113Feb 9, 2022
    MKS1109Feb 9, 2022
    MLC150Feb 9, 2022
    MMAA54Feb 9, 2022
    MMAB69Feb 9, 2022
    MMACHC93Feb 9, 2022
    MMADHC29Feb 9, 2022
    MMUT103Feb 9, 2022
    MPI48Feb 9, 2022
    MPL52Feb 9, 2022
    MPV1720Feb 9, 2022
    MRPL361Dec 28, 2020
    MTHFR69Feb 9, 2022
    MTM141Feb 9, 2022
    MTRR80Feb 9, 2022
    MTTP95Feb 9, 2022
    MVK16Feb 9, 2022
    MYO7A550Feb 9, 2022
    NADSYN12Dec 28, 2020
    NAGLU74Feb 9, 2022
    NAGS38Feb 9, 2022
    NBN291Feb 9, 2022
    NDRG1108Feb 9, 2022
    NDUFAF551Feb 9, 2022
    NDUFS614Feb 9, 2022
    NDUFS72Dec 28, 2020
    NEB1315Feb 9, 2022
    NICN17Feb 9, 2022
    NPC1151Feb 9, 2022
    NPC219Feb 9, 2022
    NPHS1145Feb 9, 2022
    NPHS247Feb 9, 2022
    NR2E3127Feb 9, 2022
    NTRK1201Feb 9, 2022
    OAT55Feb 9, 2022
    OPA311Feb 9, 2022
    OSGIN22Feb 9, 2022
    OTC37Feb 9, 2022
    PAH168Feb 9, 2022
    PCCA91Feb 9, 2022
    PCCB75Feb 9, 2022
    PCDH15346Feb 9, 2022
    PDHA128Feb 9, 2022
    PDHB22Feb 9, 2022
    PEX1203Feb 9, 2022
    PEX1085Feb 9, 2022
    PEX243Feb 9, 2022
    PEX6129Feb 9, 2022
    PEX756Feb 9, 2022
    PFKM51Feb 9, 2022
    PHF366Feb 9, 2022
    PHGDH49Feb 9, 2022
    PIRC6644Feb 9, 2022
    PKHD1612Feb 9, 2022
    PLCH23Feb 9, 2022
    PMM270Feb 9, 2022
    POMGNT1144Feb 9, 2022
    PPT173Feb 9, 2022
    PROP132Feb 9, 2022
    PSAP85Feb 9, 2022
    PTS26Feb 9, 2022
    PUS139Feb 9, 2022
    PUS324Feb 9, 2022
    PYGM139Feb 9, 2022
    PYY13Feb 9, 2022
    RAB2320Feb 9, 2022
    RAG273Feb 9, 2022
    RAPSN109Feb 9, 2022
    RARS255Feb 9, 2022
    RBM481Dec 28, 2020
    RDH1274Feb 9, 2022
    RIF1238Feb 9, 2022
    RMRP164Feb 9, 2022
    RPE6591Feb 9, 2022
    RPGRIP1L221Feb 9, 2022
    RPL36A-HNRNPH244Feb 9, 2022
    RS122Feb 9, 2022
    RTEL1359Feb 9, 2022
    RTEL1-TNFRSF6B359Feb 9, 2022
    SACS390Feb 9, 2022
    SAMHD163Feb 9, 2022
    SCO229Feb 9, 2022
    SEPSECS37Feb 9, 2022
    SGCA88Feb 9, 2022
    SGCB51Feb 9, 2022
    SGCG65Feb 9, 2022
    SGSH104Feb 9, 2022
    SLC12A3145Feb 9, 2022
    SLC12A685Feb 9, 2022
    SLC17A540Feb 9, 2022
    SLC22A5232Mar 22, 2022
    SLC25A1358Feb 9, 2022
    SLC25A1533Feb 9, 2022
    SLC26A132Feb 9, 2022
    SLC26A112Dec 28, 2020
    SLC26A248Feb 9, 2022
    SLC26A4150Feb 9, 2022
    SLC26A4-AS111Feb 9, 2022
    SLC35A11Feb 9, 2022
    SLC35A333Feb 9, 2022
    SLC37A486Feb 9, 2022
    SLC39A484Feb 9, 2022
    SLC4A11103Feb 9, 2022
    SLC6A852Feb 9, 2022
    SLC7A775Feb 9, 2022
    SMARCAL1118Feb 9, 2022
    SMPD1129Feb 9, 2022
    SPATA2241Feb 9, 2022
    STAR25Feb 9, 2022
    SUMF145Feb 9, 2022
    SYCE25Feb 9, 2022
    TCIRG1138Feb 9, 2022
    TECPR2191Feb 9, 2022
    TFR278Feb 9, 2022
    TGM1131Feb 9, 2022
    TH155Feb 9, 2022
    TLDC22Feb 9, 2022
    TMEM21632Feb 9, 2022
    TPP1161Feb 9, 2022
    TRMU50Feb 9, 2022
    TSFM20Feb 9, 2022
    TSPAN1111Feb 9, 2022
    TTPA31Feb 9, 2022
    TYMP57Feb 9, 2022
    USH1C138Feb 9, 2022
    USH2A848Feb 9, 2022
    USH2A-AS160Feb 9, 2022
    USH2A-AS244Feb 9, 2022
    VCP5Feb 9, 2022
    VPS13A186Feb 9, 2022
    VPS13B638Feb 9, 2022
    VPS4564Feb 9, 2022
    VRK160Feb 9, 2022
    VSX230Feb 9, 2022
    WNT10A45Feb 9, 2022
    ZDHHC2476Feb 9, 2022
    ZFYVE2620Feb 9, 2022
    ZNF27665Feb 9, 2022

    Condition

    NameSubmissionsLast Updated
    3 beta-Hydroxysteroid dehydrogenase deficiency42Feb 9, 2022
    3-Methylglutaconic aciduria type 311Feb 9, 2022
    3-methylcrotonyl-CoA carboxylase 1 deficiency63Feb 9, 2022
    3-methylcrotonyl-CoA carboxylase 2 deficiency41Feb 9, 2022
    6-Pyruvoyl-tetrahydrobiopterin synthase deficiency26Feb 9, 2022
    ALG6-congenital disorder of glycosylation 1C39Feb 9, 2022
    Abetalipoproteinaemia95Feb 9, 2022
    Achondrogenesis, type IB48Feb 9, 2022
    Achromatopsia143Feb 9, 2022
    Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins50Feb 9, 2022
    Acyl-CoA dehydrogenase 9 deficiency61Feb 9, 2022
    Acyl-CoA oxidase deficiency43Feb 9, 2022
    Adrenoleukodystrophy91Feb 9, 2022
    Adult polyglucosan body disease1Dec 28, 2020
    Agenesis of cerebellar vermis221Feb 9, 2022
    Agenesis of the corpus callosum with peripheral neuropathy85Feb 9, 2022
    Aicardi Goutieres syndrome63Feb 9, 2022
    Alpha thalassemia-X-linked intellectual disability syndrome167Feb 9, 2022
    Alport syndrome318Feb 9, 2022
    Alstrom syndrome626Feb 9, 2022
    Angiokeratoma corporis diffusum44Feb 9, 2022
    Argininosuccinate lyase deficiency80Feb 9, 2022
    Aromatase deficiency44Feb 9, 2022
    Arthrogryposis multiplex congenita13Dec 28, 2020
    Aspartylglucosaminuria50Feb 9, 2022
    Ataxia-telangiectasia syndrome1270Feb 9, 2022
    Autism spectrum disorder - epilepsy - arthrogryposis syndrome20Feb 9, 2022
    Autosomal dominant Alport syndrome16Dec 28, 2020
    Autosomal dominant familial hypercholesterolemia1Dec 28, 2020
    Autosomal recessive DOPA responsive dystonia155Feb 9, 2022
    Autosomal recessive congenital ichthyosis 1131Feb 9, 2022
    Autosomal recessive limb-girdle muscular dystrophy type 2A223Feb 9, 2022
    Autosomal recessive limb-girdle muscular dystrophy type 2B530Feb 9, 2022
    Autosomal recessive limb-girdle muscular dystrophy type 2C65Feb 9, 2022
    Autosomal recessive limb-girdle muscular dystrophy type 2D86Feb 9, 2022
    Autosomal recessive limb-girdle muscular dystrophy type 2E50Feb 9, 2022
    Autosomal recessive limb-girdle muscular dystrophy type 2I130Feb 9, 2022
    Autosomal recessive nonsyndromic hearing loss 1A103Feb 9, 2022
    Autosomal recessive nonsyndromic hearing loss 77246Feb 9, 2022
    Autosomal recessive osteopetrosis 1138Feb 9, 2022
    Autosomal recessive polycystic kidney disease605Feb 9, 2022
    Autosomal recessive retinitis pigmentosa160Dec 28, 2020
    Bardet-Biedl syndrome1Dec 28, 2020
    Bardet-Biedl syndrome 1121Feb 9, 2022
    Bardet-Biedl syndrome 1095Feb 9, 2022
    Bardet-Biedl syndrome 1297Feb 9, 2022
    Bardet-Biedl syndrome 2101Feb 9, 2022
    Bartter syndrome44Feb 9, 2022
    Becker muscular dystrophy1155Feb 9, 2022
    Bifunctional peroxisomal enzyme deficiency62Feb 9, 2022
    Bilateral frontoparietal polymicrogyria62Feb 9, 2022
    Biotinidase deficiency69Feb 9, 2022
    Bloom syndrome649Feb 9, 2022
    CFTR-related disorders689Feb 9, 2022
    Cardiomyopathy1155Feb 9, 2022
    Carnitine palmitoyl transferase 1A deficiency106Feb 9, 2022
    Carnitine palmitoyltransferase II deficiency131Feb 9, 2022
    Charcot-Marie-Tooth disease31Feb 9, 2022
    Charcot-Marie-Tooth disease type 437Dec 28, 2020
    Charcot-Marie-Tooth disease type 4D71Feb 9, 2022
    Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome1Dec 28, 2020
    Charlevoix-Saguenay spastic ataxia387Feb 9, 2022
    Cholestanol storage disease93Feb 9, 2022
    Chorea-acanthocytosis186Feb 9, 2022
    Choroideremia49Feb 9, 2022
    Chronic granulomatous disease123Feb 9, 2022
    Ciliary dyskinesia805Feb 9, 2022
    Citrullinemia type I97Feb 9, 2022
    Citrullinuria44Feb 9, 2022
    Classic homocystinuria152Feb 9, 2022
    Cobalamin C disease42Feb 9, 2022
    Cohen syndrome638Feb 9, 2022
    Combined malonic and methylmalonic acidemia72Feb 9, 2022
    Combined pituitary hormone deficiencies, genetic form18Dec 28, 2020
    Congenital amegakaryocytic thrombocytopenia52Feb 9, 2022
    Congenital hyperammonemia, type I135Feb 9, 2022
    Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type85Feb 9, 2022
    Congenital lipoid adrenal hyperplasia due to STAR deficency25Feb 9, 2022
    Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome32Feb 9, 2022
    Congenital myasthenic syndrome246Feb 9, 2022
    Congenital neutropenia-myelofibrosis-nephromegaly syndrome64Feb 9, 2022
    Congenital pontocerebellar hypoplasia type 124Dec 28, 2020
    Corneal dystrophy-perceptive deafness syndrome103Feb 9, 2022
    Corticosterone 18-monooxygenase deficiency13Dec 28, 2020
    Corticosterone methyl oxidase type II deficiency71Feb 9, 2022
    Creatine deficiency syndrome 152Feb 9, 2022
    Cutis laxa, X-linked19Dec 28, 2020
    Cystic fibrosis215Dec 28, 2020
    Cystinosis66Feb 9, 2022
    Decreased plasma carnitine93Feb 9, 2022
    Deficiency of acetyl-CoA acetyltransferase57Feb 9, 2022
    Deficiency of alpha-mannosidase117Feb 9, 2022
    Deficiency of galactokinase41Feb 9, 2022
    Deficiency of guanidinoacetate methyltransferase91Feb 9, 2022
    Deficiency of hyaluronoglucosaminidase24Feb 9, 2022
    Deficiency of hydroxymethylglutaryl-CoA lyase25Dec 28, 2020
    Deficiency of steroid 17-alpha-monooxygenase37Feb 9, 2022
    Duchenne muscular dystrophy1155Feb 9, 2022
    Dyskeratosis congenita332Feb 9, 2022
    Dyskeratosis congenita, autosomal dominant 127Dec 28, 2020
    Dystrophin deficiency1213Feb 9, 2022
    Ehlers-Danlos syndrome, dermatosparaxis type252Feb 9, 2022
    Ellis-van Creveld syndrome142Feb 9, 2022
    Emery-Dreifuss muscular dystrophy54Feb 9, 2022
    Encephalomyopathy with respiratory failure and lactic acidosis2Dec 28, 2020
    Enhanced S-cone syndrome77Feb 9, 2022
    Epidermolysis bullosa dystrophica179Feb 9, 2022
    Epidermolysis bullosa dystrophica inversa, autosomal recessive225Dec 28, 2020
    Ethylmalonic encephalopathy35Feb 9, 2022
    Factor V deficiency1Dec 28, 2020
    Familial Mediterranean fever206Feb 9, 2022
    Familial Mediterranean fever, autosomal dominant7Dec 28, 2020
    Familial cardiofaciocutaneous syndrome1Dec 28, 2020
    Familial dysautonomia397Feb 9, 2022
    Familial hypercholesterolemia242Feb 9, 2022
    Familial hypokalemia-hypomagnesemia145Feb 9, 2022
    Familial isolated deficiency of vitamin E31Feb 9, 2022
    Fanconi anemia558Feb 9, 2022
    Fanconi anemia complementation group A189Dec 28, 2020
    Fanconi anemia complementation group C93Dec 28, 2020
    Fanconi anemia complementation group G94Feb 9, 2022
    Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 318Feb 9, 2022
    Finnish congenital nephrotic syndrome145Feb 9, 2022
    Fragile X syndrome5Feb 9, 2022
    Fumarase deficiency147Feb 9, 2022
    GNE myopathy89Feb 9, 2022
    GRACILE syndrome31Feb 9, 2022
    Galactose intolerance105Feb 9, 2022
    Galactosylceramide beta-galactosidase deficiency126Feb 9, 2022
    Gaucher disease62Feb 9, 2022
    Generalized dominant dystrophic epidermolysis bullosa12Dec 28, 2020
    Glucose-6-phosphate transport defect85Feb 9, 2022
    Glutaric acidemia type 2A16Feb 9, 2022
    Glutaric acidemia type 2C41Feb 9, 2022
    Glutaric aciduria, type 183Feb 9, 2022
    Glycogen storage disease1Jun 10, 2019
    Glycogen storage disease due to glucose-6-phosphatase deficiency type IA66Feb 9, 2022
    Glycogen storage disease type III328Feb 9, 2022
    Glycogen storage disease, type I1Dec 28, 2020
    Glycogen storage disease, type II416Feb 9, 2022
    Glycogen storage disease, type IV73Feb 9, 2022
    Glycogen storage disease, type V139Feb 9, 2022
    Glycogen storage disease, type VII51Feb 9, 2022
    Goldmann-Favre syndrome50Dec 28, 2020
    Granulomatous disease, chronic, X-linked3Dec 28, 2020
    Hemochromatosis type 2A21Feb 9, 2022
    Hemochromatosis type 376Feb 9, 2022
    Hemoglobinopathy1Dec 28, 2020
    Hepatoencephalopathy due to combined oxidative phosphorylation defect type 155Feb 9, 2022
    Hereditary acrodermatitis enteropathica84Feb 9, 2022
    Hereditary disease6Dec 28, 2020
    Hereditary factor IX deficiency disease40Feb 9, 2022
    Hereditary fructosuria39Feb 9, 2022
    Hereditary hemochromatosis type 41Dec 28, 2020
    Hereditary hemochromatosis type 51Dec 28, 2020
    Hereditary hyperinsulinism194Feb 9, 2022
    Hereditary insensitivity to pain with anhidrosis201Feb 9, 2022
    Hereditary sensory and autonomic neuropathy3Dec 28, 2020
    Hereditary spastic paraplegia 49190Feb 9, 2022
    Hermansky-Pudlak syndrome160Feb 9, 2022
    Histiocytic medullary reticulosis113Feb 9, 2022
    Holocarboxylase synthetase deficiency74Feb 9, 2022
    Homocystinuria1Jun 10, 2019
    Homocystinuria due to MTHFR deficiency69Feb 9, 2022
    Hurler syndrome1Jun 10, 2019
    Hydrolethalus syndrome24Feb 9, 2022
    Hyperammonemia, type III38Feb 9, 2022
    Hyperlipoproteinemia, type I52Feb 9, 2022
    Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome33Feb 9, 2022
    Hypohidrotic X-linked ectodermal dysplasia23Feb 9, 2022
    Hypophosphatasia87Feb 9, 2022
    Inborn mitochondrial myopathy8Dec 28, 2020
    Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly44Feb 9, 2022
    Inherited spastic paresis1Dec 28, 2020
    Isovaleryl-CoA dehydrogenase deficiency72Feb 9, 2022
    Joubert syndrome 232Feb 9, 2022
    Juvenile retinoschisis22Feb 9, 2022
    Kostmann syndrome45Feb 9, 2022
    Late-infantile neuronal ceroid lipofuscinosis95Feb 9, 2022
    Late-onset citrullinemia22Dec 28, 2020
    Leber congenital amaurosis756Feb 9, 2022
    Leber congenital amaurosis 566Feb 9, 2022
    Leigh syndrome27Dec 28, 2020
    Lethal arthrogryposis-anterior horn cell disease syndrome13Dec 28, 2020
    Lethal congenital contractural syndrome Finnish type24Feb 9, 2022
    Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency105Feb 9, 2022
    Lysinuric protein intolerance75Feb 9, 2022
    Lysosomal acid lipase deficiency53Feb 9, 2022
    MHC class II deficiency243Feb 9, 2022
    MPI-congenital disorder of glycosylation48Feb 9, 2022
    Maple syrup urine disease2Dec 28, 2020
    Maple syrup urine disease type 1A83Feb 9, 2022
    Maple syrup urine disease type 1B62Feb 9, 2022
    Meckel syndrome, type 1109Feb 9, 2022
    Medium-chain acyl-coenzyme A dehydrogenase deficiency126Feb 9, 2022
    Megalencephalic leukoencephalopathy with subcortical cysts50Feb 9, 2022
    Menkes kinky-hair syndrome119Feb 9, 2022
    Metachromatic leukodystrophy158Feb 9, 2022
    Metaphyseal chondrodysplasia, McKusick type164Feb 9, 2022
    Methylcobalamin deficiency type cblE80Feb 9, 2022
    Methylcrotonyl-CoA carboxylase deficiency83Dec 28, 2020
    Methylmalonic acidemia84Dec 28, 2020
    Methylmalonic acidemia with homocystinuria cblC50Dec 28, 2020
    Methylmalonic aciduria1Jun 10, 2019
    Methylmalonic aciduria and homocystinuria type cblD29Feb 9, 2022
    Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency103Feb 9, 2022
    Methylmalonic aciduria, cblA type50Feb 9, 2022
    Methylmalonic aciduria, cblB type68Feb 9, 2022
    Microcephaly, normal intelligence and immunodeficiency291Feb 9, 2022
    Microphthalmia30Feb 9, 2022
    Mitochondrial DNA depletion syndrome, hepatocerebral form11Feb 9, 2022
    Mitochondrial complex I deficiency38Feb 9, 2022
    Mitochondrial neurogastrointestinal encephalomyopathy55Feb 9, 2022
    Mucolipidosis type II141Feb 9, 2022
    Mucolipidosis type III gamma112Feb 9, 2022
    Mucolipidosis type IV90Feb 9, 2022
    Mucopolysaccharidosis type 1191Feb 9, 2022
    Mucopolysaccharidosis type 657Feb 9, 2022
    Mucopolysaccharidosis, MPS-II14Dec 28, 2020
    Mucopolysaccharidosis, MPS-III-A148Feb 9, 2022
    Mucopolysaccharidosis, MPS-III-B74Feb 9, 2022
    Mucopolysaccharidosis, MPS-III-C104Feb 9, 2022
    Multiple acyl-CoA dehydrogenase deficiency64Dec 28, 2020
    Multiple sulfatase deficiency45Feb 9, 2022
    Muscle eye brain disease144Feb 9, 2022
    Myopathy, lactic acidosis, and sideroblastic anemia14Feb 9, 2022
    Myopathy, lactic acidosis, and sideroblastic anemia 117Dec 28, 2020
    Navajo neurohepatopathy9Dec 28, 2020
    Nemaline myopathy 21315Feb 9, 2022
    Nephrogenic diabetes insipidus25Feb 9, 2022
    Neuronal ceroid lipofuscinosis107Feb 9, 2022
    Neuronal ceroid lipofuscinosis 173Feb 9, 2022
    Neuronal ceroid lipofuscinosis 2161Feb 9, 2022
    Neuronal ceroid lipofuscinosis 34Jun 10, 2019
    Neuronal ceroid lipofuscinosis 541Dec 28, 2020
    Neuronal ceroid lipofuscinosis 871Feb 9, 2022
    Niemann-Pick disease, type A92Feb 9, 2022
    Niemann-Pick disease, type C1151Feb 9, 2022
    Niemann-Pick disease, type C219Feb 9, 2022
    Non-acquired combined pituitary hormone deficiency with spine abnormalities10Feb 9, 2022
    Non-ketotic hyperglycinemia290Feb 9, 2022
    Ornithine aminotransferase deficiency55Feb 9, 2022
    Ornithine carbamoyltransferase deficiency37Feb 9, 2022
    PHGDH deficiency49Feb 9, 2022
    PMM2-congenital disorder of glycosylation70Feb 9, 2022
    Pendred syndrome150Feb 9, 2022
    Permanent neonatal diabetes mellitus45Feb 9, 2022
    Phenylketonuria168Feb 9, 2022
    Pituitary hormone deficiency, combined, 232Feb 9, 2022
    Plasma factor XI deficiency70Feb 9, 2022
    Polycystic kidney dysplasia6Jun 10, 2019
    Polyglandular autoimmune syndrome, type 1173Feb 9, 2022
    Pontocerebellar hypoplasia type 1A36Feb 9, 2022
    Pontocerebellar hypoplasia type 2D37Feb 9, 2022
    Pontocerebellar hypoplasia type 655Feb 9, 2022
    Primary hyperoxaluria type 349Feb 9, 2022
    Primary hyperoxaluria, type I68Feb 9, 2022
    Primary hyperoxaluria, type II52Feb 9, 2022
    Progressive familial intrahepatic cholestasis type 276Feb 9, 2022
    Propionic acidemia166Feb 9, 2022
    Pyknodysostosis19Feb 9, 2022
    Pyruvate dehydrogenase E3 deficiency43Feb 9, 2022
    Pyruvate dehydrogenase complex deficiency45Feb 9, 2022
    Pyruvate dehydrogenase phosphatase deficiency5Feb 9, 2022
    RAB23-related Carpenter syndrome20Feb 9, 2022
    Recessive dystrophic epidermolysis bullosa3Dec 28, 2020
    Renal carnitine transport defect139Mar 22, 2022
    Renal tubular acidosis with progressive nerve deafness62Feb 9, 2022
    Retinitis pigmentosa132Dec 28, 2020
    Retinitis pigmentosa 25356Feb 9, 2022
    Retinitis pigmentosa 2694Feb 9, 2022
    Retinitis pigmentosa 2892Feb 9, 2022
    Retinitis pigmentosa 5931Feb 9, 2022
    Rhizomelic chondrodysplasia punctata62Feb 9, 2022
    Rhizomelic chondrodysplasia punctata type 116Dec 28, 2020
    Rhizomelic chondrodysplasia punctata type 317Feb 9, 2022
    Roberts syndrome23Feb 9, 2022
    Roberts-SC phocomelia syndrome20Dec 28, 2020
    Salla disease40Feb 9, 2022
    Sandhoff disease55Feb 9, 2022
    Sanfilippo syndrome39Feb 9, 2022
    SchC6pf-Schulz-Passarge syndrome45Feb 9, 2022
    Schimke immuno-osseous dysplasia118Feb 9, 2022
    Severe X-linked myotubular myopathy41Feb 9, 2022
    Severe combined immunodeficiency, athabascan-type81Feb 9, 2022
    Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency80Feb 9, 2022
    Sideroblastic anemia8Dec 28, 2020
    Sjögren-Larsson syndrome34Feb 9, 2022
    Smith-Lemli-Opitz syndrome145Feb 9, 2022
    Sphingomyelin/cholesterol lipidosis36Dec 28, 2020
    Spinal muscular atrophy2Dec 28, 2020
    Spondylocostal dysostosis 2, autosomal recessive49Feb 9, 2022
    Spongy degeneration of central nervous system41Feb 9, 2022
    Steroid-resistant nephrotic syndrome47Feb 9, 2022
    Stuve-Wiedemann syndrome59Feb 9, 2022
    Tay-Sachs disease114Feb 9, 2022
    Tyrosinemia1Jun 10, 2019
    Tyrosinemia type I80Feb 9, 2022
    Usher syndrome type 1746Feb 9, 2022
    Usher syndrome type 1B550Feb 9, 2022
    Usher syndrome type 1C138Feb 9, 2022
    Usher syndrome type 1F346Feb 9, 2022
    Usher syndrome type 2A848Feb 9, 2022
    Usher syndrome type 316Feb 9, 2022
    Usher syndrome type 3A19Dec 28, 2020
    Vanishing white matter disease40Feb 9, 2022
    Very long chain acyl-CoA dehydrogenase deficiency145Feb 9, 2022
    Walker-Warburg congenital muscular dystrophy109Feb 9, 2022
    Wilson disease293Feb 9, 2022
    X-linked Alport syndrome91Feb 9, 2022
    X-linked distal spinal muscular atrophy type 319Dec 28, 2020
    X-linked severe combined immunodeficiency37Feb 9, 2022
    Zellweger spectrum disorders460Feb 9, 2022
    alpha Thalassemia54Feb 9, 2022
    beta Thalassemia134Feb 9, 2022

    Testing in GTR

    Disease nameNumber of tests
    22q partial monosomy1 test
    3 beta-Hydroxysteroid dehydrogenase deficiency4 tests
    3-Methylglutaconic aciduria type 36 tests
    3-methylcrotonyl-CoA carboxylase 1 deficiency4 tests
    3-methylcrotonyl-CoA carboxylase 2 deficiency4 tests
    3-phosphoglycerate dehydrogenase deficiency9 tests
    5p partial monosomy syndrome1 test
    6-Pyruvoyl-tetrahydrobiopterin synthase deficiency7 tests
    ALG6-congenital disorder of glycosylation 1C4 tests
    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 9 deficiency4 tests
    Acyl-CoA oxidase deficiency4 tests
    Adrenoleukodystrophy7 tests
    Agenesis of the corpus callosum with peripheral neuropathy7 tests
    Aicardi Goutieres syndrome4 tests
    Alpha thalassemia-intellectual disability syndrome type 13 tests
    Alstrom syndrome4 tests
    Angelman syndrome1 test
    Angiokeratoma corporis diffusum3 tests
    Anomaly of sex chromosome2 tests
    Argininosuccinate lyase deficiency7 tests
    Aromatase deficiency4 tests
    Aspartylglucosaminuria7 tests
    Ataxia-telangiectasia syndrome9 tests
    Autism spectrum disorder - epilepsy - arthrogryposis syndrome9 tests
    Autosomal chromosomal disorder2 tests
    Autosomal dominant Alport syndrome9 tests
    Autosomal recessive DOPA responsive dystonia7 tests
    Autosomal recessive congenital ichthyosis 17 tests
    Autosomal recessive limb-girdle muscular dystrophy type 2A7 tests
    Autosomal recessive limb-girdle muscular dystrophy type 2B6 tests
    Autosomal recessive limb-girdle muscular dystrophy type 2C7 tests
    Autosomal recessive limb-girdle muscular dystrophy type 2D7 tests
    Autosomal recessive limb-girdle muscular dystrophy type 2E7 tests
    Autosomal recessive limb-girdle muscular dystrophy type 2I4 tests
    Autosomal recessive nonsyndromic hearing loss 776 tests
    Autosomal recessive osteopetrosis 14 tests
    Autosomal recessive polycystic kidney disease16 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
    Bilateral frontoparietal polymicrogyria4 tests
    Biotinidase deficiency7 tests
    Bloom syndrome11 tests
    Carnitine palmitoyl transferase 1A deficiency7 tests
    Carnitine palmitoyltransferase II deficiency9 tests
    Carpenter syndrome4 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
    Chorea-acanthocytosis6 tests
    Choroideremia3 tests
    Chromosome 1p36 deletion syndrome1 test
    Chronic granulomatous disease, autosomal, due to deficiency of CYBA6 tests
    Ciliopathy4 tests
    Citrin deficiency7 tests
    Citrullinemia type I11 tests
    Classic homocystinuria7 tests
    Cobalamin C disease11 tests
    Cohen syndrome4 tests
    Combined malonic and methylmalonic acidemia4 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 I2 tests
    Congenital hyperammonemia, type I4 tests
    Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type7 tests
    Congenital lipoid adrenal hyperplasia due to STAR deficency4 tests
    Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome6 tests
    Congenital myasthenic syndrome 4C9 tests
    Congenital neutropenia-myelofibrosis-nephromegaly syndrome4 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
    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
    Diabetes insipidus, nephrogenic, autosomal4 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
    Enhanced S-cone syndrome6 tests
    Epidermolysis bullosa dystrophica4 tests
    Ethylmalonic encephalopathy7 tests
    Familial Mediterranean fever6 tests
    Familial dysautonomia16 tests
    Familial hypercholesterolemia1 test
    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
    Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 34 tests
    Finnish congenital nephrotic syndrome7 tests
    Fragile X syndrome16 tests
    Fumarase deficiency7 tests
    GM1 gangliosidosis7 tests
    GNE myopathy9 tests
    GRACILE syndrome7 tests
    Galactose intolerance16 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
    Granulomatous disease, chronic, X-linked6 tests
    Hemochromatosis type 2A4 tests
    Hemochromatosis type 34 tests
    Hemoglobinopathy16 tests
    Hepatoencephalopathy due to combined oxidative phosphorylation defect type 14 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
    Hereditary spastic paraplegia 496 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
    Hydrolethalus syndrome4 tests
    Hyperammonemia, type III4 tests
    Hypercholesterolemia, familial, 15 tests
    Hypercholesterolemia, familial, 44 tests
    Hyperinsulinemic hypoglycemia, familial, 19 tests
    Hyperlipoproteinemia, type I4 tests
    Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome7 tests
    Hypohidrotic X-linked ectodermal dysplasia3 tests
    Hypophosphatasia7 tests
    Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly4 tests
    Isolated microphthalmia 26 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
    Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency7 tests
    Lysinuric protein intolerance7 tests
    METHYLMALONIC ACIDURIA, mut(0) TYPE4 tests
    MPI-congenital disorder of glycosylation7 tests
    Maple syrup urine disease type 1A7 tests
    Maple syrup urine disease type 1B9 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
    Methylcobalamin deficiency type cblE4 tests
    Methylmalonic aciduria and homocystinuria type cblD4 tests
    Methylmalonic aciduria, cblA type4 tests
    Methylmalonic aciduria, cblB type4 tests
    Microcephaly, normal intelligence and immunodeficiency7 tests
    Miscarriage1 test
    Mitochondrial complex I deficiency6 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
    Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 49 tests
    Myopathy, lactic acidosis, and sideroblastic anemia6 tests
    Navajo neurohepatopathy4 tests
    Nemaline myopathy9 tests
    Nephrotic syndrome, type 27 tests
    Nesidioblastosis4 tests
    Neuronal ceroid lipofuscinosis 17 tests
    Neuronal ceroid lipofuscinosis 27 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 A11 tests
    Niemann-Pick disease, type C17 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
    PMM2-congenital disorder of glycosylation7 tests
    Pendred syndrome7 tests
    Peroxisome biogenesis disorder11 tests
    Phenylketonuria9 tests
    Pituitary hormone deficiency, combined, 27 tests
    Polyglandular autoimmune syndrome, type 16 tests
    Pontocerebellar hypoplasia type 1A6 tests
    Pontocerebellar hypoplasia type 2D6 tests
    Pontocerebellar hypoplasia type 66 tests
    Prader-Willi syndrome1 test
    Pregnancy loss, recurrent, 41 test
    Primary ciliary dyskinesia 36 tests
    Primary ciliary dyskinesia 96 tests
    Primary hyperoxaluria type 36 tests
    Primary hyperoxaluria, type I7 tests
    Primary hyperoxaluria, type II7 tests
    Progressive familial intrahepatic cholestasis type 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
    Pyruvate dehydrogenase E3 deficiency9 tests
    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-congenital disorder of glycosylation2 tests
    Salla disease7 tests
    Sandhoff disease7 tests
    SchC6pf-Schulz-Passarge syndrome4 tests
    Schimke immuno-osseous dysplasia4 tests
    Severe X-linked myotubular myopathy3 tests
    Severe combined immunodeficiency due to DCLRE1C deficiency7 tests
    Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency7 tests
    Sjögren-Larsson syndrome7 tests
    Smith-Lemli-Opitz syndrome16 tests
    Solid tumor1 test
    Sphingolipid activator protein 1 deficiency4 tests
    Spinal muscular atrophy32 tests
    Spondylocostal dysostosis 2, autosomal recessive4 tests
    Spongy degeneration of central nervous system16 tests
    Stuve-Wiedemann syndrome4 tests
    Tay-Sachs disease27 tests
    Triploidy1 test
    Turner syndrome1 test
    Twinning, monozygotic1 test
    Tyrosinemia type I11 tests
    Usher syndrome type 1B7 tests
    Usher syndrome type 1C7 tests
    Usher syndrome type 1D7 tests
    Usher syndrome type 1F9 tests
    Usher syndrome type 2A9 tests
    Usher syndrome type 39 tests
    Vanishing white matter disease7 tests
    Very long chain acyl-CoA dehydrogenase deficiency7 tests
    Wilson disease9 tests
    Wolman disease6 tests
    X-linked Alport syndrome3 tests
    X-linked Emery-Dreifuss muscular dystrophy3 tests
    X-linked severe combined immunodeficiency5 tests
    alpha Thalassemia16 tests