Inheritest® Carrier Screening

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

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Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)

 

Mucopolysaccharidosis Type I

 

Bardet-Biedl Syndrome, BSS1-related

 

Nemaline Myopathy, NEB-related

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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

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Neuronal Ceroid-Lipofuscinosis, CLN5-related

 

Canavan Disease

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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

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Congenital Disorder of Glycosylation, Type 1a

 

Niemann-Pick Type B

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Cystic Fibrosis

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Niemann-Pick Type C, NPC1-related

 

Cystinosis

 

Niemann-Pick Type C, NPC2-related

 

D-Bifunctional Protein Deficiency

 

Nijmegen Breakage Syndrome

 

Dihydrolipoamide Dehydrogenase Deficiency

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Phenylalanine Hydroxylase Deficiency (includes PKU)

 

Dihydropyrimidine Dehydrogenase Deficiency

 

Polycystic Kidney Disease, Autosomal Recessive

 

Ethylmalonic Encephalopathy

 

Pompe Disease

 

Familial Dysautonomia

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Primary Hyperoxaluria Type 1

 

Familial Hyperinsulinism, ABCC8-related

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Primary Hyperoxaluria Type 2

 

Familial Mediterranean Fever

 

Propionic Acidemia, PCCA-related

 

Fanconi Anemia Group C

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Propionic Acidemia, PCCB-related

 

Galactosemia, GALT-related

 

Rhizomelic Chondrodysplasia Punctata Type 1

 

Gaucher Disease

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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

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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

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Homocystinuria, CBS-related

 

Tyrosinemia Type 1

 

Joubert Syndrome 2

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Usher Syndrome Type IF

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Junctional Epidermolysis Bullosa, LAMA3-related

 

Usher Syndrome Type III

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Junctional Epidermolysis Bullosa, LAMB3-related

 

Walker-Warburg Syndrome, FKTN-related

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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

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Infantile Refsum Disease

 

Maple Syrup Urine Disease, Type 1b

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