Cystic fibrosis (CFTR) gene mutation

This test is done to identify mutations in the CFTR gene that are responsible for cystic fibrosis. It helps determine whether a person is a carrier or affected by the condition, which can impact lung function, digestion, and salt balance in the body. It is also used for family planning and genetic risk assessment.

• No fasting is required.
• No special preparation is usually needed.
• Genetic counseling may be recommended before or after testing.
• Follow any instructions provided by the laboratory or healthcare provider.