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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
3 beta-Hydroxysteroid dehydrogenase deficiency Deafness, autosomal recessive 77 Glucose-6-phosphate dehydrogenase (G6PD) deficiency Inclusion Body Myopathy 2 Ornithine aminotransferase deficiency
3-Phosphoglycerate Dehydrogenase Deficiency Deficiency of acetyl-CoA acetyltransferase Galactosylceramide beta-galactosidase deficiency Infantile Sialic acid storage disease; Salla disease Ornithine carbamoyltransferase deficiency
Abetalipoproteinaemia Deficiency of alpha-mannosidase Gaucher disease Isovaleryl-CoA dehydrogenase deficiency Partial adenosine deaminase deficiency
Achondrogenesis, type IB; Multiple epiphyseal dysplasia type 4; Atelosteogenesis type II; Diastrophic dysplasia Deficiency of galactokinase Gitelman Syndrome Joubert Syndrome 2 / Meckel Syndrome 2 Pendred syndrome
Achromatopsia Deficiency of guanidinoacetate methyltransferase Glutaric acidemia type 1 Joubert syndrome 28 Peroxisomal acyl-CoA oxidase deficiency
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Deficiency of hydroxymethylglutaryl-CoA lyase Glutaric acidemia type 2A Joubert syndrome 5 Phenylketonuria
Acyl-CoA dehydrogenase family, member 9 deficiency Deficiency of steroid 11-beta-monooxygenase Glutaric acidemia type 2C Joubert syndrome 7 Phosphoribosylpyrophosphate synthetase superactivity
Adrenoleukodystrophy Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Glycine encephalopathy (AMT-related) Junctional epidermolysis bullosa (LAMA3 related) Polyglandular autoimmune syndrome, type 1
Adult polyglucosan body neuropathy Dihydrolipoamide dehydrogenase deficiency Glycine encephalopathy (GLDC-related) Junctional epidermolysis bullosa (LAMB3 related) Polymicrogyria
Aicardi Goutieres syndrome 5 Duchenne muscular dystrophy Glycogen storage disease due to glucose-6-phosphatase deficiency type IA Junctional epidermolysis bullosa (LAMC2 related) Pontocerebellar hypoplasia type 1A
Alpha thalassemia-X-linked intellectual disability syndrome Dyskeratosis congenita, autosomal recessive, 5 Glycogen storage disease type 1B Juvenile retinoschisis Pontocerebellar hypoplasia type 2D
Alport Syndrome (COL4A3-related) Dystrophic epidermolysis bullosa Glycogen storage disease type 2 Lamellar Ichthyosis, Type 1 Pontocerebellar hypoplasia type 6
Alport Syndrome (COL4A4-related) Ehlers-Danlos syndrome dermatosparaxis type Glycogen storage disease type 3 Laminin alpha 2-related dystrophy Primary carnitine deficiency
Alport Syndrome, X-linked (COL4A5-related) Ellis-van Creveld syndrome (EVC-related) Glycogen storage disease type 4 Laryngo-onycho-cutaneous syndrome Primary Ciliary Dyskinesia (DNAH11-related)
Alstrom syndrome Ellis-van Creveld syndrome (EVC2-related) Glycogen storage disease type 5 Leber congenital amaurosis 10 Primary Ciliary Dyskinesia (DNAH5-related)
Anauxetic dysplasia; Cartilage-hair hypoplasia; Metaphyseal dysplasia without hypotrichosis Emery-Dreifuss muscular dystrophy, X-linked Glycogen storage disease type 7 Leber congenital amaurosis 13 Primary Ciliary Dyskinesia (DNAI1-related)
Andermann Syndrome Enhanced s-cone syndrome GRACILE syndrome/ BCS1L-related disorders Leber congenital amaurosis 2 Primary Ciliary Dyskinesia (DNAI2-related)
Arginase deficiency Ethylmalonic encephalopathy Hemochromatosis type 2A Leber congenital amaurosis 5 Primary hyperoxaluria type I
Argininosuccinate lyase deficiency Fabry disease Hemochromatosis type 3 Leber congenital amaurosis 8 Primary hyperoxaluria type II
Aromatase deficiency Familial dysautonomia Hereditary acrodermatitis enteropathica Leigh syndrome, French Canadian type Primary hyperoxaluria type III
Arthrogryposis, mental retardation, and seizures Familial hypercholesterolemia (LDLR related) Hereditary factor IX deficiency disease Lethal congenital contracture syndrome Progressive familial intrahepatic cholestasis 2
Arts syndrome Familial hypercholesterolemia (LDLRAP1 related) Hereditary fructosuria Leukoencephalopathy with vanishing white matter Propionic acidemia (PCCA related)
Asparagine synthetase deficiency Familial Hyperinsulinism, ABCC8-Related Hereditary insensitivity to pain with anhidrosis Limb-girdle muscular dystrophy type 2A Propionic acidemia (PCCB related)
Aspartylglucosaminuria Familial isolated deficiency of vitamin E Hereditary spastic paraplegia 15 Limb-girdle muscular dystrophy type 2B Pyknodysostosis
Ataxia-telangiectasia syndrome Fanconi anemia type A Hermansky-Pudlak syndrome type 1 Limb-girdle muscular dystrophy type 2C Pyruvate carboxylase deficiency
Autosomal recessive osteopetrosis 1 Fanconi anemia type C Hermansky-Pudlak syndrome type 3 Limb-girdle muscular dystrophy type 2D Pyruvate dehydrogenase E1-alpha deficiency
Autosomal recessive polycystic kidney disease Fanconi anemia type G Holocarboxylase synthetase deficiency Limb-girdle muscular dystrophy type 2E Pyruvate dehydrogenase E1-beta deficiency
Bardet-Biedl syndrome 1 Fetal akinesia deformation sequence Homocystinuria (CBS related) Limb-girdle muscular dystrophy type 2F Renal tubular acidosis with progressive nerve deafness
Bardet-Biedl syndrome 10 Finnish congenital nephrotic syndrome Homocystinuria due to MTHFR deficiency Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Retinitis pigmentosa 20
Bardet-Biedl syndrome 12 Fragile X syndrome Homocystinuria, cobalamin E type Lysinuric protein intolerance Retinitis pigmentosa 25
Bardet-Biedl syndrome 13 Fukuyama congenital muscular dystrophy Hydrolethalus syndrome Lysosomal acid lipase deficiency Retinitis pigmentosa 26
Bardet-Biedl syndrome 14 Fumarase deficiency Hyperlipoproteinemia, type I Maple syrup urine disease type 1A Retinitis pigmentosa 28
Bardet-Biedl syndrome 2 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Maple syrup urine disease type 1B Retinitis pigmentosa 59
Bare lymphocyte syndrome 2 Hypohidrotic X-linked ectodermal dysplasia Maple syrup urine disease type 2 Retinitis pigmentosa 73
Bartter disease type 4a Hypophosphatasia Meckel-Gruber syndrome Retinitis pigmentosa 76
BH4-deficient hyperphenylalaninemia A Meckel syndrome type 1 Rhizomelic chondrodysplasia punctata type 1/ Refsum disease (PEX7-related)
Bifunctional peroxisomal enzyme deficiency Meckel syndrome type 4 Rhizomelic chondrodysplasia punctata type 3
Bloom syndrome Meckel syndrome, type 5 Roberts-SC phocomelia syndrome
Canavan Disease Medium-chain acyl-coenzyme A dehydrogenase deficiency Sandhoff disease
Carnitine palmitoyltransferase I deficiency Megalencephalic leukoencephalopathy with subcortical cysts 1 Schimke immuno-osseous dysplasia
Carnitine palmitoyltransferase II deficiency Menkes kinky-hair syndrome Segawa syndrome
Carpenter syndrome 1 Metachromatic leukodystrophy (ARSA related) Senior-Loken syndrome 6
Cerebrotendinous xanthomatosis Metachromatic leukodystrophy due to Severe combined immunodeficiency (RAG2-related)
Charcot-Marie-Tooth disease type 4D saposin-b deficiency Severe combined immunodeficiency due to ADA deficiency
Charcot-Marie-Tooth disease, X-linked Methylmalonic acidemia (MMAA related) Severe combined immunodeficiency due to DCLRE1C deficiency
Charcot-Marie-Tooth Neuropathy X Methylmalonic acidemia (MMAB related) Severe combined immunodeficiency, X-linked
Charlevoix-Saguenay spastic ataxia Methylmalonic Aciduria and Homocystinuria, Type cblC Severe congenital neutropenia 3
Choreoacanthocytosis Methylmalonic Aciduria and Homocystinuria, Type cblD Severe congenital neutropenia 5, autosomal recessive
Choroideremia Microcephaly, postnatal progressive, with seizures and brain atrophy Severe X-linked myotubular myopathy
Chronic granulomatous disease (CYBA related) Microphthalmia /clinical anophthalmia (VSX2-related) Sjögren-Larsson syndrome
Chronic granulomatous disease, X-linked Mitochondrial complex I deficiency/ Leigh syndrome (NDUFAF5-related) Smith-Lemli-Opitz syndrome
Citrin deficiency Mitochondrial complex I deficiency/ Leigh syndrome (NDUFAF6-related) Spastic paraplegia 49, autosomal recessive
Citrullinemia type I Mitochondrial DNA depletion syndrome 1 (MNGIE type) Spinal muscular atrophy
Cockayne syndrome type A MPV17-related mitochondrial DNA maintenance defect Spondylocostal dysostosis
Cockayne syndrome type B Mucolipidosis type II Steel syndrome
Cohen syndrome Mucolipidosis type III gamma Stuve-Wiedemann Syndrome
Combined malonic and methylmalonic aciduria Mucolipidosis type IV Tay-Sachs disease
Combined oxidative phosphorylation deficiency 1 Mucopolysaccharidosis type I (Hurler syndrome) Tooth agenesis, selective, 4; Odonto-onycho-dermal dysplasia; Schopf-Schulz-Passarge syndrome
Combined oxidative phosphorylation deficiency 3 Mucopolysaccharidosis type II (Hurler syndrome) Tyrosinemia type I
Combined Pituitary Hormone Deficiency-2 Mucopolysaccharidosis type IIIA Tyrosinemia type II
Combined Pituitary Hormone Deficiency-3 Mucopolysaccharidosis type IIIB (Sanfilippo B) Usher syndrome type 1B
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency Mucopolysaccharidosis type IIIC Usher syndrome type 1C
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Mucopolysaccharidosis type IIID Usher syndrome type 1D
Congenital Adrenal Hyperplasia Mucopolysaccharidosis type IVB (Morquio B syndrome)/ GM1 gangliosidosis Usher syndrome type 1F
Congenital amegakaryocytic thrombocytopenia Mucopolysaccharidosis type IX Usher syndrome type 2A
Congenital bilateral aplasia of vas deferens from CFTR mutation Mucopolysaccharidosis type VI Usher syndrome type 3A
Congenital disorder of glycosylation type 1A Multiple sulfatase deficiency Very long-chain acyl-CoA dehydrogenase deficiency
Congenital disorder of glycosylation type 1B Muscular dystrophy-dystroglycanopathy, FKTN-related Walker-Warburg congenital muscular dystrophy
Congenital disorder of glycosylation type 1C Myopathy, lactic acidosis, and sideroblastic anemia 1 Werdnig-Hoffmann disease
Congenital hyperammonemia, type I N-acetylglutamate Synthase Deficiency Wilson disease
Congenital Hyperinsulinism Nemaline myopathy 2 Xeroderma pigmentosum group A
Congenital muscular dystrophy-dystroglycanopathy Nephrogenic diabetes insipidus Xeroderma pigmentosum, group C
Congenital myasthenic syndrome Nephrotic syndrome, idiopathic, steroid-resistant Zellweger spectrum disorder (PEX1-related)
Congenital myasthenic syndrome (CHRNE) Neuronal ceroid lipofuscinosis 1 Zellweger spectrum disorder (PEX10-related)
Corneal dystrophy-perceptive deafness syndrome Neuronal ceroid lipofuscinosis 2 Zellweger spectrum disorder (PEX12-related)
Corneal endothelial dystrophy Neuronal ceroid lipofuscinosis 3 Zellweger spectrum disorder (PEX2-related)
Corticosterone Methyloxidase Deficiency Neuronal ceroid lipofuscinosis 5 Zellweger spectrum disorder (PEX6-related)
Costeff Syndrome (3-Methylglutaconic Aciduria, Type 3) Neuronal ceroid lipofuscinosis 6
Creatine transporter deficiency Neuronal ceroid lipofuscinosis 7
Cystic fibrosis Neuronal ceroid lipofuscinosis 8
Cystinosis Niemann-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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