Genetic analysis for cystic fibrosis transmembrane conductance regulator (CFTR) using a probe-based assay (e.g., multiplex next-generation sequencing)

What This Test Measures

The CFTR gene provides instructions for making a protein that regulates salt and water movement in cells. Mutations in this gene can lead to cystic fibrosis by disrupting normal cell function. This test detects specific genetic changes (mutations) in the CFTR gene using advanced DNA sequencing technology.

Why It’s Done

Doctors may recommend this test if you have symptoms of cystic fibrosis (such as chronic lung infections, digestive issues, or salt loss), a family history of cystic fibrosis, or if you’re considering pregnancy and have a family history of the condition.

Sample Collection and Process

A blood sample is typically taken from a vein in your arm. The blood is processed to extract DNA, which is then analyzed for known CFTR mutations using a specialized genetic probe assay. Results are usually available within 1–2 weeks.

Interpreting Results

Results may show normal CFTR gene function, a known mutation associated with cystic fibrosis, or variants that require further genetic counseling. A doctor will explain the implications based on your specific findings and family history.