CYSTIC FIBROSIS,IRT (NEONATAL SCREEN) DRIED BLOOD SPOT (O.S)

Overview

Cystic fibrosis (CF), in the classic form, is a severe autosomal recessive disorder characterized by a varied degree of chronic obstructive lung disease and pancreatic enzyme insufficiency. o date, over 1500 variants have been described within the CF gene, named cystic fibrosis transmembrane conductance regulator (CFTR). The most common variant, deltaF508, accounts for approximately 67% of the variants worldwide.