Cystic Fibrosis Mutation Detection - CFTR

Cystic fibrosis (CF), a.k.a mucoviscidosis, is a disorder that affects mainly the lungs but also the pancreas, liver, kidneys, and intestine. Cystic fibrosis is caused by a mutation in the gene Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). This test detects the most common CFTR mutation - ΔF508 which is a deletion of 3 nucleotides which results in a loss of the amino acid phenylalanine (F) at the 508th position on the protein.