Cystic Fibrosis, 5 mutations

Description

This genetic test screens for the five most common mutations in the CFTR gene associated with cystic fibrosis. While not as comprehensive as the full CF genetic test, it provides a cost-effective option for initial screening. The test is often used for carrier screening in individuals with a family history of CF or as part of reproductive planning. It can also aid in diagnosis when specific common mutations are suspected. However, a negative result may still require further testing if CF is strongly suspected, as rarer mutations are not covered by this test.