Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 17, Issue 1, Pages 51-65Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2008.136
Keywords
guidelines; recommendations; genetic testing; cystic fibrosis; CFTR; CFTR-related disorders
Funding
- EU project EuroGentest [FP6-512148]
- European Cystic Fibrosis Network
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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.
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