Comprehensive genetic carrier screening is an important part of family planning. Genetic screening can provide information to help define your risk of having a child with a genetic disorder.
Comprehensive genetic carrier screening, as prescribed by your fertility 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 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 fertility treatment options.
Typically, carriers of genetic diseases are healthy individuals themselves. But when parents both carry the same genetic disease, they 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 undergo genetic carrier screening, and we discover they both carry the same genetic disease, there are options to consider. Genetic counselors can help you understand the possible abnormalities and treatment options that could prevent the conception of an affected child.
The Center works with several leading genetic carrier screening labs. Once you decide to have genetic carrier screening, your clinical care team will walk you through the testing options, provide the kits and complete a testing requisition for you.
Both you and your fertility doctor will receive your results. Your doctor will discuss results with you and may recommend you speak with a genetic counselor.
Your results will include a phone number you can call to schedule a telephone consultation with a genetic counselor. The genetic counselor will then review your results with you and answer any questions you may have.
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.
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
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.
