Cystic Fibrosis Carrier Testing

Cystic fibrosis (CF) is a common genetic disorder resulting in chronic pulmonary and gastrointestinal/pancreatic disease. There is wide variability in clinical symptoms of cystic fibrosis.

This blood test is used to help determine affected or carrier status for the 32 most common Cystic Fibrosis mutations.

CF is inherited in a recessive manner, which means that both parents must be carriers to have an affected child. When both parents are carriers, there is a 25% chance with each pregnancy that the child will be affected. Genetic counseling and CF molecular testing are recommended for the reproductive partners and at-risk family members of CF carriers.

This test will identify approximately 90% of cystic fibrosis (CF) mutations in the Caucasian population, and 97% in the Ashkenazi Jewish population.