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Pathway Genomics’ carrier status test provides relevant genetic insights to inform physicians about the health of their patients’ future children. By following the American College of Obstetricians and Gynecologists (ACOG) recommendations, we offer a comprehensive preconception and prenatal carrier screening test.

Not all tests are created equal. Carrier Status DNA InsightTM offers more ACOG-recommended conditions than most other carrier tests on the market today, providing physicians with powerful carrier-associated information from a single source.

Carrier Status DNA InsightTM

  • Screens patients for more than 70 recessive genetic diseases
  • Supported by rigorous science using clinically-relevant, well-validated markers and assays
  • Enables physicians to offer calculated guidance on pre- and postnatal health
Mental Health DNA Insight Report
Pathway Genomics provides physicians and patients access to a genetic counselor at no charge to review individual results.

The Carrier Status DNA InsightTM genetic test reports on the following conditions:

ACOG-Recommended Conditions

Beta-thalassemia

Canavan disease

Cystic fibrosis

Familial dysautonomia

Sickle cell disease

Tay-Sachs disease

Ashkenazi Jewish Conditions

Bloom syndrome

Canavan disease

Cystic fibrosis

Factor XI deficiency

Familial dysautonomia

Fanconi anemia

Gaucher disease

Glycogen storage disease, type 1A

Maple syrup urine disease

Mucolipidosis IV

Niemann-Pick disease

Tay-Sachs disease

Tyrosinemia

Additional Conditions

3-Methylcrotonyl-CoA carboxylase deficiency

Acrodermatitis enteropathica

Alpha-1 antitrypsin deficiency

Amyotrophic lateral sclerosis

Argininosuccinate lyase deficiency

Autoimmune polyglandular syndrome, type I

Bartter syndrome, type 4A

Beta-ketothiolase deficiency

Biotinidase deficiency

Carnitine deficiency, primary systemic

Cerebrotendinous xanthomatosis

Citrullinemia, type I

Crigler-Najjar syndrome

Diabetes, permanent neonatal

Dihydropyrimidine dehydrogenase deficiency

Additional Conditions (continued)

Dubin-Johnson syndrome

Ehlers-Danlos syndrome, dermatosparaxis

Ehlers-Danlos syndrome, hypermobility

Ehlers-Danlos syndrome, kyphoscoliotic

Familial Mediterranean fever

Galactokinase deficiency

Galactosemia

Glutaric acidemia, type 1

GM1-gangliosidosis

Hearing loss, DFNB1 and DFNB9 nonsyndromic

Hearing loss, DFNB59 nonsyndromic

Hemochromatosis

Hemoglobin C

Hemoglobin E

HMG-CoA lyase deficiency

Homocystinuria, cblE type

Homocystinuria, classic

Hurler syndrome

Lipoprotein lipase deficiency, familial

Medium-chain acyl-CoA dehydrogenase deficiency

Methylmalonic acidemia

Mucolipidosis II

Mucolipidosis III

Multiple carboxylase deficiency

Nephrotic syndrome, steroid-resistant

Phenylketonuria

Polycystic kidney disease

Pompe disease

Prekallikrein deficiency

Propionic acidemia

Prothrombin deficiency

Rh-null syndrome

Rickets, pseudovitamin D-deficiency

Sandhoff disease

Short-chain acyl-CoA dehydrogenase deficiency

Sick sinus syndrome

Spherocytosis, hereditary

Tay-Sachs pseudodeficiency

Thrombocytopenia, congenital amegakaryocytic

Very long-chain acyl-CoA dehydrogenase deficiency

Von Willebrand disease, type 2 Normandy

Von Willebrand disease, type 3

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