Inheritest® Carrier Screening

Adenosine Deaminase Deficiency		Medium-chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
α-Mannosidosis		Metachromatic Leukodystrophy
Andermann Syndrome		Methylmalonic Acidemia, MMAA-related
Argininosuccinic Aciduria		Methylmalonic Acidemia, MMAB-related
Aspartylglucosaminuria		Methylmalonic Acidemia, MUT-related
Ataxia-Telangiectasia		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
β-Thalassemia		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
Cystinosis		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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