Carrier Status DNA InsightSM

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 InsightSM 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 InsightSM

  • Screens patients for more than 70 recessive genetic diseases
  • Supported by rigorous science using clinically-relevant, well-validated markers and assays
  • Requires only a non-invasive saliva sample for most conditions
  • Enables physicians to offer calculated guidance on pre- and postnatal health

Pathway Genomics provides physicians and patients access to a genetic counselor at no charge to review individual results.

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

ACOG-Recommended Conditions*
Beta-thalassemia
Canavan disease
Cystic fibrosis
Familial dysautonomia
Sickle cell disease
Tay-Sachs disease
ACOG-Recommended Conditions (Blood)*
Alpha-thalassemia
Fragile X syndrome
Spinal muscular atrophy (SMA)
*ACOG-recommended testing may vary based on race/ethnicity and family history

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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