Cystic fibrosis is an autosomal recessive disease which is characterized by observed elevation in the sweat chloride concentration via evidences in the lungs and pancreas. Studies have shown more than 1,500 different mutations in patients up to now.

Incidince frequency of the most common mutation, ΔF508, in the transmembrane conductance regulator (CFTR) gene is between 18.8-27% in our country. Other commonly observed mutaions in Turkish society are 1677delTA, G542X, and 2183A-G.