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

Description and Mutations analyzed Modification

Test code: 4402

Effective update from 30/11/2021

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Cystic Fibrosis, panel (50 mutations, polyT-CFTR) screening, whole blood          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 the polimorfism IVS8-5T.       Version of Test: 37

Mutation Detection CFTR gen (Cystic Fibrosis)                                      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, I507del, F508del, A1006E, 1812-1G>A, A561E, 2869insG, K710X, R709X, 2184insA, 712-1G>T, H199Y, P205S, V232D and the polymorphism IVS8-5T.      Version of Test: 38

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