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 following mutations in the CFTR gene are screened using the Elucigene, CF-EU2 (IVD) kit: R347H, R347P, 2789+5G>A, 3120+1G>A, 711+1G>T, R334W, I507del, F508del, 3849+10kbC>T, 1677delTA, 1078delT, V520F, L206W, W1282X, R560T, 2347delG, Q890X, R553X, G551D, S549N, M1101K, G542X, 3905insT, Y1092X(C>A), S1251N, 444delA, 1811+1.6kbA>G, 1717-1G>A, R117H, R117C, N1303K, Y122X, 394delTT, G85E, R1066C, 1898+1G>A, W846X, 2184delA, D1152H, CFTRdele2,3, P67L, 2143delT, E60X, 3659delC, 3272-26A>G, 621+1G>T, A455E, R1162X, R1158X, 2183AA>G, E822X. Deletions and duplications in CFTR gene are detected using the MLPA technique.
Sample type: Peripheral blood in EDTA
Time to result: 1 week
The Molecular Biology department participates successfully in the exteral quality control sheme for cystic fibrosis provided via INSTAND.