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

×