CFTR mutation testing refers to the genetic testing done to identify mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. Mutations in this gene are associated with cystic fibrosis, a genetic disorder that affects the lungs and digestive system.

The CFTR gene provides instructions for making a protein that is involved in the regulation of salt and water movement in and out of cells. Mutations in this gene can lead to the production of a defective CFTR protein, causing thick and sticky mucus to build up in the respiratory, digestive, and reproductive systems. Cystic fibrosis is an inherited disorder, and individuals with CF often experience respiratory problems, digestive issues, and other complications due to the thick mucus that clogs their airways and various organs.

CFTR mutation testing can be performed for various purposes. This testing can be done as part of newborn screening programs to identify infants with CF. It involves analyzing a blood sample or a sample collected via a heel prick for specific mutations associated with CF. Carrier testing is offered to individuals who do not have CF symptoms but have a family history of the disorder. It identifies carriers of CF mutations. Prenatal CFTR mutation testing can be performed during pregnancy to determine whether a fetus has CF. For individuals showing symptoms of CF, genetic testing can be used to confirm the diagnosis.

Apart from cystic fibrosis, CFTR mutations have also been associated with male infertility related conditions such as oligospermia, epididymal obstruction, congenital bilateral absence of the vas deferens (CBAVD), and idiopathic ejaculatory duct obstruction (EDO). Current guidelines from multiple groups recommend CFTR screening in all men with clinical CF or CBAVD.