Testing for cystic fibrosis
Cystic fibrosis (CF, cystic fibrosis, mucoviscidosis) is one of the most prevalent congenital diseases, which is caused by alterations (mutations) in the CFTR (cystic fibrosis transmembrane conductance regulator) gene.
In the Caucasian population one in every 28 persons carries a defective copy of the CFTR gene. Mutation ΔF508del should be highlighted since this deletion is responsible for the clinical aspects of the disease in approximately two-thirds of the patients. If, in a given case, both parents carry a mutation in their CFTR genes they have a 25% probability that their child will be ill. The prevalence of CF justifies the mutational analysis of the CFTR gene.