Mutation Detection CFTR gen (Cystic Fibrosis)

Description and Reference values Modification

Test code: 4402

Effective update from 04/12/2023

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Mutation Detection CFTR gen (Cystic Fibrosis) Reference values and 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.       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.             Version of Test: 41

MUTATION DETECTION CFTR GEN (CYSTIC FIBROSIS), WHOLE BLOOD                 Reference values and Mutations analyzed:  See attached report.                                                   Version of Test: 42

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