Carrier Screening

Carrier screening is a type of genetic testing that is generally done before prospective parents start their family planning to get a better sense of whether they are at risk of having a child with a rare genetic condition. Often, but not always, there is no family history of these conditions, which highlights the importance of looking for these conditions. Current carrier screening tests can detect hundreds of different genetic disorders and should be considered when:

Personal or Family History of Any of These Features

  • Anyone who is pregnant or planning to become pregnant
  • Known genetic condition such as
    • Cystic fibrosis
    • Fragile X
    • Hemoglobinopathies
    • Sickle cell anemia
    • Spinal muscular atrophy
    • Tay-Sachs disease
    • Many others – please contact us with any questions about a specific disorder

We perform expanded carrier screening for most patients and can include testing for specific genetic disorders known to be in the family.

Here’s how it works:

  1. We’ll have an initial consultation via phone or video to discuss the different types of carrier screening available.
  2. You’ll submit a blood or saliva sample using a test kit we’ll have mailed to you.
  3. We’ll have a follow up consultation via phone or video. We’ll walk through your results and make recommendations for you and your family members.

Overall the process takes 2 – 3 weeks.

Insurance and Payment

Most insurers cover genetic testing for the purpose of carrier screening. We’ll review those with you at your initial consultation. If you’d prefer to self-pay, the laboratories accept credit cards, and the cost for the testing is as low as $250.

Additional Support

We also connect individuals and families with patient advocacy groups. It often helps to speak to other people who are dealing with many of the same difficult issues and decisions you may encounter.