Carrier Testing for Common Genetic Diseases

Carrier Testing for Common Genetic Diseases

TPC offers optional carrier testing for the most common genetic diseases before or during pregnancy.  Carrier testing is not able to detect all of the genetic abnormalities that cause a particular disease.

There are a few common inherited diseases that may affect an individual even if they do not have a family history for that disease.  Examples of these diseases include cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome.  A blood test can help determine if you are a carrier for one of these diseases.  Both parents must be carriers for the baby to be at an increased risk for developing the disease.

CF is a chronic disease that affects the respiratory, digestive, and reproductive systems.

Fragile X syndrome is a disease that causes developmental and mental delay, autism, and hyperactivity.

SMA is a rare disease that destroys nerve cells that causes infants or children to lose muscle control that affects breathing, swallowing, and movement.

You may be a carrier of the above diseases and not be aware of it.  We have information regarding the above medical conditions and screening.  Please speak to our physician if you have additional questions or concerns regarding carrier testing.  In addition, please check with your individual insurance company to see if they will cover screening for the above medical conditions.