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Carrier Status

Use your DNA raw data from ancestry genetic testing service providers like 23andMe, AncestryDNA, Family Tree DNA (FTDNA), Living DNA, My Heritage can be used to know your variant status for these inherited conditions.

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Xcode Life carrier status report
A-CD-FG-HI-NO-Z
3 beta-Hydroxysteroid dehydrogenase deficiencyDeafness, autosomal recessive 77Glucose-6-phosphate dehydrogenase (G6PD) deficiencyInclusion Body Myopathy 2Ornithine aminotransferase deficiency
3-Phosphoglycerate Dehydrogenase DeficiencyDeficiency of acetyl-CoA acetyltransferaseGalactosylceramide beta-galactosidase deficiencyInfantile Sialic acid storage disease; Salla diseaseOrnithine carbamoyltransferase deficiency
AbetalipoproteinaemiaDeficiency of alpha-mannosidaseGaucher diseaseIsovaleryl-CoA dehydrogenase deficiencyPartial adenosine deaminase deficiency
Achondrogenesis, type IB; Multiple epiphyseal dysplasia type 4; Atelosteogenesis type II; Diastrophic dysplasiaDeficiency of galactokinaseGitelman SyndromeJoubert Syndrome 2 / Meckel Syndrome 2Pendred syndrome
AchromatopsiaDeficiency of guanidinoacetate methyltransferaseGlutaric acidemia type 1Joubert syndrome 28Peroxisomal acyl-CoA oxidase deficiency
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteinsDeficiency of hydroxymethylglutaryl-CoA lyaseGlutaric acidemia type 2AJoubert syndrome 5Phenylketonuria
Acyl-CoA dehydrogenase family, member 9 deficiencyDeficiency of steroid 11-beta-monooxygenaseGlutaric acidemia type 2CJoubert syndrome 7Phosphoribosylpyrophosphate synthetase superactivity
AdrenoleukodystrophyDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferaseGlycine encephalopathy (AMT-related)Junctional epidermolysis bullosa (LAMA3 related)Polyglandular autoimmune syndrome, type 1
Adult polyglucosan body neuropathyDihydrolipoamide dehydrogenase deficiencyGlycine encephalopathy (GLDC-related)Junctional epidermolysis bullosa (LAMB3 related)Polymicrogyria
Aicardi Goutieres syndrome 5Duchenne muscular dystrophyGlycogen storage disease due to glucose-6-phosphatase deficiency type IAJunctional epidermolysis bullosa (LAMC2 related)Pontocerebellar hypoplasia type 1A
Alpha thalassemia-X-linked intellectual disability syndromeDyskeratosis congenita, autosomal recessive, 5Glycogen storage disease type 1BJuvenile retinoschisisPontocerebellar hypoplasia type 2D
Alport Syndrome (COL4A3-related)Dystrophic epidermolysis bullosaGlycogen storage disease type 2Lamellar Ichthyosis, Type 1Pontocerebellar hypoplasia type 6
Alport Syndrome (COL4A4-related)Ehlers-Danlos syndrome dermatosparaxis typeGlycogen storage disease type 3Laminin alpha 2-related dystrophyPrimary carnitine deficiency
Alport Syndrome, X-linked (COL4A5-related)Ellis-van Creveld syndrome (EVC-related)Glycogen storage disease type 4Laryngo-onycho-cutaneous syndromePrimary Ciliary Dyskinesia (DNAH11-related)
Alstrom syndromeEllis-van Creveld syndrome (EVC2-related)Glycogen storage disease type 5Leber congenital amaurosis 10Primary Ciliary Dyskinesia (DNAH5-related)
Anauxetic dysplasia; Cartilage-hair hypoplasia; Metaphyseal dysplasia without hypotrichosisEmery-Dreifuss muscular dystrophy, X-linkedGlycogen storage disease type 7Leber congenital amaurosis 13Primary Ciliary Dyskinesia (DNAI1-related)
Andermann SyndromeEnhanced s-cone syndromeGRACILE syndrome/ BCS1L-related disordersLeber congenital amaurosis 2Primary Ciliary Dyskinesia (DNAI2-related)
Arginase deficiencyEthylmalonic encephalopathyHemochromatosis type 2ALeber congenital amaurosis 5Primary hyperoxaluria type I
Argininosuccinate lyase deficiencyFabry diseaseHemochromatosis type 3Leber congenital amaurosis 8Primary hyperoxaluria type II
Aromatase deficiencyFamilial dysautonomiaHereditary acrodermatitis enteropathicaLeigh syndrome, French Canadian typePrimary hyperoxaluria type III
Arthrogryposis, mental retardation, and seizuresFamilial hypercholesterolemia (LDLR related)Hereditary factor IX deficiency diseaseLethal congenital contracture syndromeProgressive familial intrahepatic cholestasis 2
Arts syndromeFamilial hypercholesterolemia (LDLRAP1 related)Hereditary fructosuriaLeukoencephalopathy with vanishing white matterPropionic acidemia (PCCA related)
Asparagine synthetase deficiencyFamilial Hyperinsulinism, ABCC8-RelatedHereditary insensitivity to pain with anhidrosisLimb-girdle muscular dystrophy type 2APropionic acidemia (PCCB related)
AspartylglucosaminuriaFamilial isolated deficiency of vitamin EHereditary spastic paraplegia 15Limb-girdle muscular dystrophy type 2BPyknodysostosis
Ataxia-telangiectasia syndromeFanconi anemia type AHermansky-Pudlak syndrome type 1Limb-girdle muscular dystrophy type 2CPyruvate carboxylase deficiency
Autosomal recessive osteopetrosis 1Fanconi anemia type CHermansky-Pudlak syndrome type 3Limb-girdle muscular dystrophy type 2DPyruvate dehydrogenase E1-alpha deficiency
Autosomal recessive polycystic kidney diseaseFanconi anemia type GHolocarboxylase synthetase deficiencyLimb-girdle muscular dystrophy type 2EPyruvate dehydrogenase E1-beta deficiency
Bardet-Biedl syndrome 1Fetal akinesia deformation sequenceHomocystinuria (CBS related)Limb-girdle muscular dystrophy type 2FRenal tubular acidosis with progressive nerve deafness
Bardet-Biedl syndrome 10Finnish congenital nephrotic syndromeHomocystinuria due to MTHFR deficiencyLong-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyRetinitis pigmentosa 20
Bardet-Biedl syndrome 12Fragile X syndromeHomocystinuria, cobalamin E typeLysinuric protein intoleranceRetinitis pigmentosa 25
Bardet-Biedl syndrome 13Fukuyama congenital muscular dystrophyHydrolethalus syndromeLysosomal acid lipase deficiencyRetinitis pigmentosa 26
Bardet-Biedl syndrome 14Fumarase deficiencyHyperlipoproteinemia, type IMaple syrup urine disease type 1ARetinitis pigmentosa 28
Bardet-Biedl syndrome 2Hyperornithinemia-hyperammonemia-homocitrullinuria syndromeMaple syrup urine disease type 1BRetinitis pigmentosa 59
Bare lymphocyte syndrome 2Hypohidrotic X-linked ectodermal dysplasiaMaple syrup urine disease type 2Retinitis pigmentosa 73
Bartter disease type 4aHypophosphatasiaMeckel-Gruber syndromeRetinitis pigmentosa 76
BH4-deficient hyperphenylalaninemia AMeckel syndrome type 1Rhizomelic chondrodysplasia punctata type 1/ Refsum disease (PEX7-related)
Bifunctional peroxisomal enzyme deficiencyMeckel syndrome type 4Rhizomelic chondrodysplasia punctata type 3
Bloom syndromeMeckel syndrome, type 5Roberts-SC phocomelia syndrome
Canavan DiseaseMedium-chain acyl-coenzyme A dehydrogenase deficiencySandhoff disease
Carnitine palmitoyltransferase I deficiencyMegalencephalic leukoencephalopathy with subcortical cysts 1Schimke immuno-osseous dysplasia
Carnitine palmitoyltransferase II deficiencyMenkes kinky-hair syndromeSegawa syndrome
Carpenter syndrome 1Metachromatic leukodystrophy (ARSA related)Senior-Loken syndrome 6
Cerebrotendinous xanthomatosisMetachromatic leukodystrophy due toSevere combined immunodeficiency (RAG2-related)
Charcot-Marie-Tooth disease type 4Dsaposin-b deficiencySevere combined immunodeficiency due to ADA deficiency
Charcot-Marie-Tooth disease, X-linkedMethylmalonic acidemia (MMAA related)Severe combined immunodeficiency due to DCLRE1C deficiency
Charcot-Marie-Tooth Neuropathy XMethylmalonic acidemia (MMAB related)Severe combined immunodeficiency, X-linked
Charlevoix-Saguenay spastic ataxiaMethylmalonic Aciduria and Homocystinuria, Type cblCSevere congenital neutropenia 3
ChoreoacanthocytosisMethylmalonic Aciduria and Homocystinuria, Type cblDSevere congenital neutropenia 5, autosomal recessive
ChoroideremiaMicrocephaly, postnatal progressive, with seizures and brain atrophySevere X-linked myotubular myopathy
Chronic granulomatous disease (CYBA related)Microphthalmia /clinical anophthalmia (VSX2-related)Sjögren-Larsson syndrome
Chronic granulomatous disease, X-linkedMitochondrial complex I deficiency/ Leigh syndrome (NDUFAF5-related)Smith-Lemli-Opitz syndrome
Citrin deficiencyMitochondrial complex I deficiency/ Leigh syndrome (NDUFAF6-related)Spastic paraplegia 49, autosomal recessive
Citrullinemia type IMitochondrial DNA depletion syndrome 1 (MNGIE type)Spinal muscular atrophy
Cockayne syndrome type AMPV17-related mitochondrial DNA maintenance defectSpondylocostal dysostosis
Cockayne syndrome type BMucolipidosis type IISteel syndrome
Cohen syndromeMucolipidosis type III gammaStuve-Wiedemann Syndrome
Combined malonic and methylmalonic aciduriaMucolipidosis type IVTay-Sachs disease
Combined oxidative phosphorylation deficiency 1Mucopolysaccharidosis type I (Hurler syndrome)Tooth agenesis, selective, 4; Odonto-onycho-dermal dysplasia; Schopf-Schulz-Passarge syndrome
Combined oxidative phosphorylation deficiency 3Mucopolysaccharidosis type II (Hurler syndrome)Tyrosinemia type I
Combined Pituitary Hormone Deficiency-2Mucopolysaccharidosis type IIIATyrosinemia type II
Combined Pituitary Hormone Deficiency-3Mucopolysaccharidosis type IIIB (Sanfilippo B)Usher syndrome type 1B
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiencyMucopolysaccharidosis type IIICUsher syndrome type 1C
Congenital adrenal hyperplasia due to 21-hydroxylase deficiencyMucopolysaccharidosis type IIIDUsher syndrome type 1D
Congenital Adrenal HyperplasiaMucopolysaccharidosis type IVB (Morquio B syndrome)/ GM1 gangliosidosisUsher syndrome type 1F
Congenital amegakaryocytic thrombocytopeniaMucopolysaccharidosis type IXUsher syndrome type 2A
Congenital bilateral aplasia of vas deferens from CFTR mutationMucopolysaccharidosis type VIUsher syndrome type 3A
Congenital disorder of glycosylation type 1AMultiple sulfatase deficiencyVery long-chain acyl-CoA dehydrogenase deficiency
Congenital disorder of glycosylation type 1BMuscular dystrophy-dystroglycanopathy, FKTN-relatedWalker-Warburg congenital muscular dystrophy
Congenital disorder of glycosylation type 1CMyopathy, lactic acidosis, and sideroblastic anemia 1Werdnig-Hoffmann disease
Congenital hyperammonemia, type IN-acetylglutamate Synthase DeficiencyWilson disease
Congenital HyperinsulinismNemaline myopathy 2Xeroderma pigmentosum group A
Congenital muscular dystrophy-dystroglycanopathyNephrogenic diabetes insipidusXeroderma pigmentosum, group C
Congenital myasthenic syndromeNephrotic syndrome, idiopathic, steroid-resistantZellweger spectrum disorder (PEX1-related)
Congenital myasthenic syndrome (CHRNE)Neuronal ceroid lipofuscinosis 1Zellweger spectrum disorder (PEX10-related)
Corneal dystrophy-perceptive deafness syndromeNeuronal ceroid lipofuscinosis 2Zellweger spectrum disorder (PEX12-related)
Corneal endothelial dystrophyNeuronal ceroid lipofuscinosis 3Zellweger spectrum disorder (PEX2-related)
Corticosterone Methyloxidase DeficiencyNeuronal ceroid lipofuscinosis 5Zellweger spectrum disorder (PEX6-related)
Costeff Syndrome (3-Methylglutaconic Aciduria, Type 3)Neuronal ceroid lipofuscinosis 6
Creatine transporter deficiencyNeuronal ceroid lipofuscinosis 7
Cystic fibrosisNeuronal ceroid lipofuscinosis 8
CystinosisNiemann-Pick disease type C1
Niemann-Pick disease type C2
Niemann-Pick Disease, Types A/B
Nijmegen breakage syndrome
Nonsyndromic hearing loss and deafness
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