MOLECULAR STUDY - CYSTIC FIBROSIS (36 MUTATIONS), WHOLE BLOOD

Modification title and additional information

Test code: 1253

PREVIOUS   (32 mutations)	CURRENT   (36 mutations)
MUTATIONS (S549N, S549R, R533X, G551D, V520F, I507del, F508del, 3876delA, 1717-1G->A, G542X, R560T, 3120+1G->A, A455E, R117H, 394delTT, 2183AA->G, 2184delA, 2789+5G->A , 1898+1G->A, 621+1G->T, 711+1G->T, G85E,  R347P, R347H, W1282X, R334W, 1078delT, 3849+10KbC->T, R1162X, N1303K, 3659delC, 3905insT)	MUTATIONS (711+1G>T, 3120+1G>A, 621+1G>T, 1717-1G>A, CFTR dele2,3(21kb), 3849+10kb C>T, 2789+5G>A, 1898+1G>A, G542X, G85E, Y1092X(C>A), G551D, R553X, 3659delC, 1303K, R560T, R117H, R1162X, L1077P, R117C, R1066C, L1065P, W1282X, R347H, R347P, I507del, T338I, F508del, I336K, 1677delTA, R334W, 3272-26 A>G, 1078delT, 2183AA>G, 2184insA, 2143delT)

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The detection rate of new screening panel is generally superior to all populations of European origin, with a maximum increase of mutational coverage in South-European populations (about 95% compared to 80% in the previous panel offered) (1,2).

[1]   Testing Guidelines for molecular diagnosis of Cystic Fibrosis. Guidelines ratified by the UK Clinical Molecular Genetics Society (13th July, 2009).

[1] (1994), Population variation of common cystic fibrosis mutations. Hum. Mutat., 4: 167–177. doi: 10.1002/humu.1380040302