Genetic test for *Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene mutations* (screening or confirmatory)

This test is done to help your healthcare provider find out whether your body shows signs of a specific condition or infection. It can be used to confirm a diagnosis, check for an ongoing problem, or screen for issues before symptoms appear, so that treatment can begin at the right time.

Doctors may recommend this test if you have symptoms of cystic fibrosis (e.g., chronic lung infections, poor weight gain, or digestive issues) or if you have a family history of the condition. It can also be used during prenatal screening or before certain surgeries to assess risk.

During this test, a small sample is collected from your body and examined in a laboratory. Trained laboratory staff look for specific markers, such as antibodies, antigens, or other substances, that indicate whether the condition being tested for is present, and the findings are then reported to your provider.

Blood or saliva samples are collected to analyze DNA for known CFTR gene mutations. The test identifies variations that may cause cystic fibrosis or increase risk.

Before the test, your healthcare provider will explain the procedure and answer any questions you may have. You may be asked to avoid certain foods, drinks, or medications for a short period, depending on the type of test. Wear comfortable clothing, and tell your provider about any allergies, medications, or medical conditions you have, as well as whether you are pregnant or may become pregnant.

No special preparation is needed. Bring a list of medications you’re taking, as some may affect results. If testing during pregnancy, inform your healthcare provider.

Your results will be reported as negative or positive, or sometimes as a value compared with a reference range. A negative result usually means no signs of the condition were found, while a positive result means the test detected markers associated with the condition. Your provider will review the results with you, explain what they mean for your situation, and discuss any follow-up testing or treatment that may be needed.

Results can be normal (no mutations found) or abnormal (mutations detected). Abnormal results may indicate cystic fibrosis or a higher risk. Follow-up testing or genetic counseling may be needed for further evaluation.