DNA Diagnosis of Cystic Fibrosis

This article is intended primarily to provide a critical review of the methodology available and the strategies required for DNA testing in cystic fibrosis (CF) and is aimed at those scientists who have some experience of molecular genetics. I would strongly recommend that the reader becomes familiar with the excellent review by Philip Wenham I which provides a very good introduction to the methodology. There are also numerous laboratory manualsv which provide detailed protocols of the methods described below. This review is therefore intended to give a broad view, with some comparison of the methods available. In the United Kingdom, molecular analysis in CF is usually carried out in Regional Molecular Genetics Laboratories but is not confined to them, and a handful of specialist clinical chemistry laboratories are offering basic testing.