Genetic test for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations via next-generation sequencing (NGS) with probe-based analysis

What Is the Purpose of This Test?

Cystic fibrosis (CF) is a genetic disorder that affects the lungs, digestive system, and other organs. The CFTR gene plays a key role in regulating salt and water movement in cells. Mutations in this gene can lead to abnormal function, causing symptoms like chronic lung infections, digestive issues, or other health problems. This test identifies specific changes (mutations) in the CFTR gene that may be responsible for these conditions.

How Is the Test Performed?

A blood sample is collected to extract DNA for analysis. The test uses advanced genetic sequencing technology to detect mutations in the CFTR gene. This process involves breaking down DNA into smaller pieces, matching them to known genetic sequences, and identifying any variations.

What Does a Positive Result Mean?

A positive result indicates the presence of specific mutations in the CFTR gene. These mutations may be associated with cystic fibrosis or other related genetic conditions. However, having a mutation does not always mean you will develop symptoms. Genetic testing helps doctors determine if you are at risk and plan appropriate care.

What Does a Negative Result Mean?

A negative result means the tested mutations were not found in your DNA. This does not rule out cystic fibrosis entirely, as some mutations may not be detected by this specific test. Additional testing or genetic counseling may be recommended for further evaluation.