Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene Mutation Analysis: c.3199del6 (6-base pair deletion)

What This Test Measures

The test looks for a deletion of six DNA base pairs in the CFTR gene, specifically at position 3199 (denoted as c.3199del6). This mutation is associated with cystic fibrosis, a genetic disorder affecting the lungs and digestive system. It may also be evaluated in individuals with symptoms of respiratory or digestive issues, family history of cystic fibrosis, or those undergoing prenatal testing.

Why It Might Be Ordered

Your healthcare provider may recommend this test if you have a family history of cystic fibrosis, unexplained respiratory symptoms, chronic sinus infections, or digestive problems. It can also be part of prenatal screening or diagnostic testing for couples planning a pregnancy who have a known risk of passing on cystic fibrosis.

Sample Collection and Process

The test typically uses a blood sample (whole blood) or saliva sample to analyze DNA. Blood samples are often processed in a lab to extract DNA, while saliva samples are collected directly for genetic analysis. Results are compared against known genetic references to identify the mutation.

What the Results Mean

If the mutation is found, it confirms the presence of the c.3199del6 deletion in your DNA. This finding may require further genetic counseling and additional testing to assess the full impact on your health. If the mutation is not detected, it means this specific deletion is absent from your DNA, but other mutations in the CFTR gene could still be present.