P297: Identification of CFTR variants in clinically diagnosed cystic fibrosis patients from Pakistan using next generation sequencing

Cystic Fibrosis (CF) is a multisystem, life-limiting autosomal recessive disease. There is paucity of CF-related data from Pakistan due to limited resources and lack of diagnostic tools. We used Next Generation Sequencing (NGS) based CFTR sequencing for patients with high clinical suspicion of CF. We aimed to differentiate between ‘True CF’ and ‘Labeled Suspected CF’ patients and report variants unique to the Pakistani population, and determine candidates for future CFTR (Cystic Fibrosis Transmembrane Receptor) modulator therapies.