Cystic Fibrosis, panel (50 mutations, polyT-CFTR) screening, whole blood

Reference values Modification

Test code: 4402

Effective update from 29/08/2018

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Mutations analyzed:       CFTRdele2,3, R334W, R553X, Y1092X(C>A), E60X, R347P, R560T, M1101K, P67L, R347H, 1811+1.6kbA>G, D1152H, G85E, A455E, 1898+1G>A, R1158X, 394delTT, 2143delT, R1162X, 444delA, 2184delA, 3659delC, R117C, 1677delTA, 2347delG, 3849+10kbC>T, R117H, V520F, W846X, S1251N, Y122X, 1717-1G>A, 2789+5G>A, 3905insT, 621+1G>T, G542X, Q890X, W1282X, 711+1G>T, S549R(T>G), 3120+1G>A, N1303K, L206W, S549N, 3272-26A>G, 1078delT, G551D, R1066C, delI507, delF508, y el polimorfismo IVS8-5T.       NOTE:The study covers 76% of the most frequent mutations detected in the Mediterranean area. This result does not exclude the presence of other mutations in the CFTR gene, with very low frequency, in addition to those analyzed.

Mutations analyzed:       CFTRdele2,3, R334W, R553X, Y1092X(C>A), E60X, R347P, R560T, M1101K, P67L, R347H, 1811+1.6kbA>G, D1152H, G85E, A455E, 1898+1G>A, R1158X, 394delTT, 2143delT, R1162X, 444delA, 2184delA, 3659delC, R117C, 1677delTA, 2347delG, 3849+10kbC>T, R117H, V520F, W846X, S1251N, Y122X, 1717-1G>A, 2789+5G>A, 3905insT, 621+1G>T, G542X, Q890X, W1282X, 711+1G>T, S549R(T>G), 3120+1G>A, N1303K, L206W, S549N, 3272-26A>G, 1078delT, G551D, R1066C, delI507, delF508, A1006E, 1812-1G>A, A561E, 1069delCA, 2869insG, K710X, R709X, 2184insA, 712-1G>T, H199Y, P205S, V232D and polimorfism IVS8-5T.       NOTE:The study covers 76% of the most frequent mutations detected in the Mediterranean area. This result does not exclude the presence of other mutations in the CFTR gene, with very low frequency, in addition to those analyzed.

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