Genetic Carrier Screening

What is Genetic Carrier Screening?

 Comprehensive genetic carrier screening is an important part of family planning. The screening can provide information that can help define your risk of having a child with a genetic disorder.

Comprehensive genetic carrier screening, as prescribed by your Center doctor, can identify whether you are a “carrier” of a genetic disorder. This covers screening for 100+ genetic disorders, including cystic fibrosis, fragile X and spinal muscular atrophy.

The Center’s clinical care team will be talking to you about genetic carrier screening. The Center strongly recommends genetic carrier screening for all people beginning the family building journey. In fact, not having this testing done could limit some of your treatment options and choices.

What are the advantages of obtaining carrier screening?

Typically, carriers are healthy individuals; however, two parents who are carriers of the same genetic disease can have an affected child.  An affected child can have severe disabilities and multiple birth defects in addition to a shortened life span.  If both parents are found to be the carrier of the same genetic disease, genetic counseling can be provided to discuss these possible abnormalities and treatment options that could be utilized to prevent the conception of an affected child.

How can I obtain testing?

Once you decide to move forward with genetic carrier screening, your Center clinical care team will provide you with testing options, kits and complete a testing requisition for you. The Center works with a couple of different genetic carrier screening labs.

How will I receive results?

Both you and your Center doctor will receive your results. Your doctor will discuss results with you and may recommend you speak with a genetic counselor.

How can I obtain genetic counseling?

To schedule a telephone consultation with a genetic counselor, you will simply call the number provided to you with your results. The genetic counselor will then review your results with you and answer any questions you may have.

What is my financial obligation?

Your out-of-pocket cost will depend on the type of screening/test ordered and your insurance coverage. The labs we work with have self-pay options for those without insurance. This will be reviewed with you prior to ordering the test.

How can I learn more?

Myriad Foresight Test

Website:              https://myriadwomenshealth.com/patient-foresight/
Video:                  https://www.youtube.com/watch?v=RX1dZYhM650

Natera Horizon Test

Website:              https://www.natera.com/womens-health/horizon-advanced-carrier-screening/
Video:                  https://www.youtube.com/watch?v=BmO3IpQZ95M

Evolving Technology

Genetic carrier screening is a new and constantly evolving technology. What is likely the standard of care today and the number of identifiable genetic mutations to test for will be different tomorrow. The Center can only act on the information available today and cannot control or be accountable for testing options that become available in the future.