Carrier Screening
Family Planning with Carrier Screening
Genetic disorders can vary from mild to severe. With the rapid advances in genetic technology, genetic testing has become a significant part of planning your pregnancy. Carrier screening can be an important step when building your family and can provide valuable information as you plan for your future.
What Does it Mean to be a Carrier?
Carriers of a genetic disorder are typically healthy individuals who show no sign of disease, yet possess a change in their genetic information. Carrier screening can identify carriers for different genetic conditions. Normal results reduce, but do not eliminate, your risk of being a carrier for the conditions screened. The conditions offered as a part of reproductive genetic carrier screening can be passed from parents to their offspring in one of two ways:
- Autosomal recessive disorders: If both parents are carriers, there is a 25% chance of having a child with the disease.
- X-linked disorders: If the woman is a carrier, there is up to a 50% chance of having a child with the disease.
Carrier Screening Options
At GenPath, multiple, different carrier screening options are available to accurately identify couples at risk of having a child with a genetic condition. Your provider or genetic counselor can help you decide which carrier screening options are right for you.
Cystic Fibrosis Carrier Testing
Cystic fibrosis is a genetic disease that affects the lungs, pancreas, gastrointestinal tract, and reproductive system. Learn more about GenPath’s cystic fibrosis carrier screening.
Spinal Muscular Atrophy Carrier Testing
Spinal muscular atrophy (SMA) is a disease that impacts voluntary movements like walking, talking, and swallowing. Learn more about SMA carrier screening.
Fragile X Carrier Testing
Fragile X syndrome is the most common cause of inherited intellectual disability. Learn more about Fragile X carrier screening.