Molecular diagnostics for cystic fibrosis

There are many mutations that cause cystic fibrosis, however, only a few account for the majority of the cases. This article provides a review of the molecular genetics of cystic fibrosis. A low cost technique for detection of the most common mutations is described. Emphasis is placed on the appropriate applications and interpretations in the use of molecular diagnostics for the diagnosis, carrier detection, and treatment of cystic fibrosis. Emerging treatment possibilities, including gene therapy, are discussed.