Genetic syndrome

Question

Genetic diagnosis for cystic fibrosis

Answer 1

Cystic fibrosis (CF) is caused by the presence of mutations in both copies of the gene for the CF transmembrane conductance regulator (CFTR) protein. CF can also be diagnosed by identification of mutations in the CFTR gene.Many laboratories can test for the 30–96 most common CFTR mutations, which can identify over 90% of people with cystic fibrosis.