Our Center is able to perform DNA Analysis for Cystic Fibrosis Disease. The CFTR gene mutations (whole gene) constituting 97-98% of the mutations observed in patients can be identified with DNA sequencing analysis.
Autosomal recessive genetic disease is characterized by sweat chlorid concentration increased by the symptoms of the lung and pancreas. Almost 1600 different mutations are today found by checking the patients so far. The mostly observed mutation seen at the gene of cystic fibrosis transmembrane regulator (CFTR) is ∆F508, the ratio of being seen in our country is 18,8%-27%). Other mutations are 1677delTA, G542X, 2183AA-G, N1303K, R347H.
The situations which are offered cystic fibrosis
