Article
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.
European journal of human genetics : EJHG - 1 Jan 2009
Dequeker Els, Stuhrmann Manfred, Morris Michael A, Casals Teresa, Castellani Carlo, Claustres Mireille, Cuppens Harry, des Georges Marie, Ferec Claude, Macek Milan, Pignatti Pier-Franco, Scheffer Hans, Schwartz Marianne, Witt Michal, Schwarz Martin, Girodon Emmanuelle
Abstract excerpt
The increasing number of laboratories offering molecular genetic analysis of the CFTR gene and the growing use of commercial kits strengthen the need for an update of previous best practice guidelines (published in 2000). The importance of organizing regional or national laboratory networks, to provide both primary and comprehensive CFTR mutation screening, is stressed. Current guidelines focus on strategies for...
Topics
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Ethnicity
- Female
- Genetic Carrier Screening
- Genetic Counseling
- Genetic Testing
- Humans
- Infertility, Male