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Inheritest® Carrier Screening

Adenosine Deaminase Deficiency


Medium-chain Acyl-CoA Dehydrogenase Deficiency (MCAD)




Metachromatic Leukodystrophy


Andermann Syndrome


Methylmalonic Acidemia, MMAA-related


Argininosuccinic Aciduria


Methylmalonic Acidemia, MMAB-related




Methylmalonic Acidemia, MUT-related




Mucolipidosis Type IV


Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)


Mucopolysaccharidosis Type I


Bardet-Biedl Syndrome, BSS1-related


Nemaline Myopathy, NEB-related


Bardet-Biedl Syndrome, BSS10-related


Nephrotic Syndrome, NPHS1-related


β-Hemoglobinopathies, Hemoglobins C,D,E,O


Nephrotic Syndrome, NPHS2-related




Neuronal Ceroid-Lipofuscinosis, CLN3-related


Bloom Syndrome


Neuronal Ceroid-Lipofuscinosis, CLN5-related


Canavan Disease


Neuronal Ceroid-Lipofuscinosis, CLN8-related


Cartilage-Hair Hypoplasia


Neuronal Ceroid-Lipofuscinosis, PPT1-related


Citrullinemia Type I


Neuronal Ceroid-Lipofuscinosis, TPP1-related


Cobalamin C Disease (Methylmalonic Aciduria With Homocystinuria)


Niemann-Pick Type A


Congenital Disorder of Glycosylation, Type 1a


Niemann-Pick Type B


Cystic Fibrosis


Niemann-Pick Type C, NPC1-related




Niemann-Pick Type C, NPC2-related


D-Bifunctional Protein Deficiency


Nijmegen Breakage Syndrome


Dihydrolipoamide Dehydrogenase Deficiency


Phenylalanine Hydroxylase Deficiency (includes PKU)


Dihydropyrimidine Dehydrogenase Deficiency


Polycystic Kidney Disease, Autosomal Recessive


Ethylmalonic Encephalopathy


Pompe Disease


Familial Dysautonomia


Primary Hyperoxaluria Type 1


Familial Hyperinsulinism, ABCC8-related


Primary Hyperoxaluria Type 2


Familial Mediterranean Fever


Propionic Acidemia, PCCA-related


Fanconi Anemia Group C


Propionic Acidemia, PCCB-related


Galactosemia, GALT-related


Rhizomelic Chondrodysplasia Punctata Type 1


Gaucher Disease


Salla Disease


Glutaric Acidemia Type I


Sandhoff Disease


Glutathione Synthetase Deficiency


Sickle Cell Disease


Glycine Encephalopathy, GLDC-related


Sjögren-Larsson Syndrome


Glycogen Storage Disease Type Ia


Smith-Lemli-Opitz Syndrome


Glycogen Storage Disease Type Ib


Sulfate Transporter-related Osteochondrodysplasias


Glycogen Storage Disease Types IIIa and IIIb


Achondrogenesis Type 1B


GRACILE Syndrome


Atelosteogenesis Type 2


Hereditary Fructose Intolerance


Diastrophic Dysplasia


HMG-CoA Lyase Deficiency


Recessive Multiple Epiphyseal Dysplasia


Holocarboxylase Synthetase Deficiency


Tay-Sachs Disease


Homocystinuria, CBS-related


Tyrosinemia Type 1


Joubert Syndrome 2


Usher Syndrome Type IF


Junctional Epidermolysis Bullosa, LAMA3-related


Usher Syndrome Type III


Junctional Epidermolysis Bullosa, LAMB3-related


Walker-Warburg Syndrome, FKTN-related


Junctional Epidermolysis Bullosa, LAMC2-related


Wilson Disease


Krabbe Disease


Zellweger Syndrome Spectrum, PEX1-related


Leigh Syndrome, French-Canadian Type


Zellweger Syndrome


Long-chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)


Neonatal Adrenoleukodystrophy


Maple Syrup Urine Disease, Type 1a


Infantile Refsum Disease


Maple Syrup Urine Disease, Type 1b





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