CFTR Gene Mutation Analysis
HEREDITY HEALTHCARE AND LIFE SCIENCES Contact us: Dr.GopalPurohit Email: gopal.purohit@hdls.in Contact number: 7381298980 Website: www.heredity.in Written by: Sweta Yadav Introduction: Cystic fibrosis (CF) is an inherited disease that affects mainly the lungs, pancreas, and sweat glands. It leads to the production of thick, sticky mucus and can cause recurrent respiratory infections and impaired function of the pancreas. The CF gene mutation panel detects the common mutations in the cystic fibrosis transmembrane conductance regulator ( CFTR ) gene on chromosome 7 to screen for or diagnose CF or to identify carriers of the disease. Cystic fibrosis is caused by a mutation in each of the two copies of the CFTR gene (one copy from each parent). Both copies (alleles) of this gene pair must be abnormal to cause CF. If only one copy is mutated, the individual is a CF carrier. Carriers do not generally have any CF symptoms, but they can pass their abnormal