1. Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.
- Author
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Dequeker E, Stuhrmann M, Morris MA, Casals T, Castellani C, Claustres M, Cuppens H, des Georges M, Ferec C, Macek M, Pignatti PF, Scheffer H, Schwartz M, Witt M, Schwarz M, and Girodon E
- Subjects
- Ethnicity, Female, Genetic Carrier Screening, Genetic Counseling standards, Humans, Infertility, Male diagnosis, Infertility, Male genetics, Intestinal Diseases diagnosis, Intestinal Diseases embryology, Intestinal Diseases genetics, Laboratories standards, Male, Microsatellite Repeats, Mutation, Pregnancy, Prenatal Diagnosis, Risk Assessment, Cystic Fibrosis diagnosis, Cystic Fibrosis genetics, Cystic Fibrosis Transmembrane Conductance Regulator genetics, Genetic Testing standards
- Abstract
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 dealing with increasingly complex situations of CFTR testing. Diagnostic flow charts now include testing in CFTR-related disorders and in fetal bowel anomalies. Emphasis is also placed on the need to consider ethnic or geographic origins of patients and individuals, on basic principles of risk calculation and on the importance of providing accurate laboratory reports. Finally, classification of CFTR mutations is reviewed, with regard to their relevance to pathogenicity and to genetic counselling.
- Published
- 2009
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