Carrier Status DNA Insight®

Genetic Carrier Testing for Parents

Understanding Carrier Status

Each person has two copies of the genetic materials, one copy inherited from each parent. Many genetic diseases are recessive, meaning the disease is caused by inheriting a mutation at the same DNA location from both parents. If a parent carries a mutation in one of the two copies of the DNA, he/she is a carrier of the genetic disease.

A carrier has a 50% chance of passing the same mutation to the child. If both parents are carriers, the child will have a 25% chance of inheriting both copies of the mutation, thus leading to the development of the genetic disease. Some inherited diseases are more common in certain ethnic groups and in people with a family history of genetic disorders.


Carrier DNA Insight® is a comprehensive preconception and prenatal carrier screening test. Carrier DNA Insight® follows the American College of Obstetricians and Gynecologists (ACOG) recommendations, and screen patients for more than 70 recessive genetic diseases.

Carrier DNA Insight® provides physicians with information about the risks of inherited diseases of their patients’ future children.



Clinical Implementation for Patients

With Carrier DNA Insight®, patients can gain knowledge on their risks of passing inheritable genetic diseases to their children or future children. A more comprehensive assessment can be obtained if both parents are tested.


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
  • 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

Step 1:

Carrier Status DNA Insight® can be ordered from a licensed and registered physician or other qualified healthcare provider.
Physicians can request test kits here.

Step 2:

Once your test has been ordered for you by a physician, you will provide a saliva sample using the saliva collection kit found in the Pathway Genomics box.

Step 3:

You or your authorized health care professional will mail your saliva sample back to Pathway Genomics, along with your test requisition and consent form (return shipping provided).  You can view our saliva collections instructional video here.

Step 4:

Pathway Genomics analyzes your sample in its CLIA-certified and CAP-accredited laboratory. Typically within two to three weeks, your personalized results will be available to the ordering health care professional. The results will then be released to you. Pathway Genomics has a team of genetic counselors who are available to ensure that you understand the information in your report, and to answer any questions you may have about your results . To contact our genetic counselors, please call our client services department at 877-505-7374 or email

Carrier DNA Insight® is for individuals who want to find out if they are at an increased risk of passing an inheritable disease to their children or future children. Individuals in certain ethnic groups or with a family history of genetic diseases may also benefit from carrier DNA Insight® testing.



Carrier Status DNA Insight® inside look:

✓ 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.


  • Access an interactive version of the report anytime, anywhere

  • Learn about other Pathway tests and how they can help lead a healthier life

  • Help friends and family by sharing the power of genetic insight