Most patients in the United States are now diagnosed for cystic fibrosis (CF) through newborn screening and use of molecular testing methods. This article reviews the molecular testing approaches and laboratory guidelines for carrier screening, prenatal testing, newborn screening, and clinical diagnostic testing, as well as recent developments in CF treatment, and reasons for the lack of a molecular diagnosis in some patients.
Title: Cystic Fibrosis: A Review of Associated Phenotypes, Use of Molecular Diagnostic Approaches, Genetic Characteristics, Progress, and Dilemmas
Authors: Marie-Luise Brennan; Iris Schrijver
Date: November 2015
Link to Paper: http://www.sciencedirect.com/science/article/pii/S1525157815002160
Link to News Article: http://www.news-medical.net/news/20151216/New-study-finds-a-reason-for-e...