Cystic fibrosis | Most common mutation F508del

Cystic fibrosis (CF) is the most common monogenic disorder in Caucasians. Carriers are estimated to be 4-5% of the general population and the birth rate of children affected by the disease is approximately 1:2000-1:2500 live births.

It is a genetic disease that follows autosomal recessive mode of inheritance; both parents have to be carriers of the disease and their children have 25% chance to be affected by cystic fibrosis.

The genetic variability is very high, more than 1900 different mutations in the responsible gene (Cystic Fibrosis Transmembrane Regulator, CFTR) have been described worldwide. The mutations and their respective frequencies have a distinct ethnic and geographic distribution.

The most frequent mutation in CFTR gene is p.F508del, with a frequency ranging from 70-80% in northern European countries to 30-54% in southern European countries.

The F508del mutation of the CFTR gene is detected using ARMS-PCR.

Sample type: Peripheral blood in EDTA

Time to result: 1 week