ViennaLab CF StripAssay® TUR detects 24 common CFTR mutations in the Turkish population. CFTR gene mutations detected by the CF StripAssay® TUR: F508del (-CTT) D1152H 621+1G>T, 1677delTA R1158X R334W, 1717-1G>A R1162X R347H, G542X W1282X R347P, 2043delG N1303K E831X, 2183AA>G G85E W1098X (TGA), 2184delA E92X IVS8 T5/T7/T9, 2184insA E92K, 2789+5G>A M152V.
Cystic Fibrosis (CF) is the most common life-limiting autosomal recessive disorder in the Caucasian population. The disease incidence is estimated to be one 1 in 2,500 to 4,000 live births and 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. In newborn screening CFTR genotyping enables early diagnosis and minimizes emotional stress for parents Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) represents an anion channel which is responsible for the salt-fluid- and pH-balance in secretory and absorptive epithelial tissues. Mutations in the 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.