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. To 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.