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. Molecular analysis of cystic fibrosis should include sequencing of the entire coding region and known intronic mutations, as well as detection of deletions and duplications.
The test includes analysis of all exons and exon-intron boundaries of CFTR gene and selected deep intronic and untranslated regions using Next Generation Sequencing. Deletions and duplications in CFTR gene are analysed using the MLPA technique.
Sample type: Peripheral blood in EDTA
Time to result: 1 week