Home / Blood Tests / Cystic Fibrosis Screen (del 508)

Cystic Fibrosis Screen (del 508)

Cystic fibrosis (CF) is a genetic disorder that affects the respiratory, digestive, and reproductive systems. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The del508 mutation is the most common mutation associated with CF, accounting for about two-thirds of CF cases in people of European descent. A cystic fibrosis screen for the del508 mutation involves genetic testing to determine if an individual has one or two copies of the del508 mutation in the CFTR gene. Individuals with one copy of the mutation are carriers of the CF gene and typically do not show symptoms of the disease. However, carriers can pass the mutated gene on to their children. If an individual has two copies of the del508 mutation, they have CF and are at risk for a range of complications, including lung infections, digestive problems, and infertility. Early detection of CF can help improve outcomes and prevent complications. CF screening is typically recommended for individuals with a family history of CF or who have symptoms of the disease. The test is also routinely offered to couples who are planning a pregnancy or who are pregnant, as CF can be passed on to children if both parents are carriers of the CF gene.

There is an additional £20 phlebotomy fee for every donation.