CF is the most common life-limiting autosomal recessive disorders in the Caucasian population. The disease incidence is estimated to be 1 in 2,500 to 4 000 live births. Mutations in CFTR gene lead to dysfunction of chloride transport across cell membranes and cause production of thick, sticky mucus in multiple organs as well as increased sweat chloride levels, which are diagnostic for CF disease. Affected children commonly experience decreased pulmonary function along with persistent respiratory infections, pancreatic insufficiency and malnutrition. Clinical manifestations vary by severity of the underlying CFTR mutations, ranging from classical CF to the milder forms of CFTR-related disorders.
Mutations in the CFTR gene are a relatively frequent cause of male infertility, especially obstructive azoospermic conditions such as congenital absence of the vas deferens (CAVD).
Specimen Requirements - 2 ml of peripheral blood collected in an EDTA (lavender top) vacutainer tube.
Transport - the specimen should be refrigerated (for 1or 2 days) and shipped at room temperature.
Reporting time - 10-15 days
(DNA test for 34 common CFTR mutations and polyT variant in intron 8: CFTRdel2,3, I507del,ΔF508, 1717-1G >A, G542X, G551D, R553X, R560T, 2143delT, 2183AA >G, 2184delA, 2184insA, 2789+5G >A, R1162X, 3659delC, 3905insT, W1282X, N1303K,G85E,394delTT,R117H, Y122X, 621+1G >T, 711+1G >T, 1078delT,R334W, R347H, R347P, A455E, 1898+1G >A, 3120+1G >A,\3272-26A >G, Y1092X , 3849+10kbC >T,IVS8 5T/7T/9T).
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