المختبرات الطبية الأولى

:Normal range

∆F508, ∆1507, G542X, 1717-1GA, G551D, R553X, R560T, Q552X, W1282X, S1251N, 3905insT, N1303K, 394delTT, G85E, E60X, 621+1G->T, R117H, 1078delT, R347P, R334W, 2143delT, 2183AA->G, 2184delA, 711+5G->A, 2789+5G->A, R1162X, 3659delC, 3849+10kbC->T, A455E, & Tn mutation: Negative for all (29) mutations

Comment: Cystic fibrosis is a sever autosomal recessive disease affecting 1 in 2.500 live births in the UK. The carrier frequency is 1 in 25. DNA analysis can be used to screen for the most common mutations in the cystic fibrosis (CF) gene can be used to detect 75-80% of mutant alleles by PCR. Test is especially useful in neonates and children where only 1 ml EDTA blood is sufficient

Sample: EDTA, whole blood