Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

被引：0
作者：
Els Dequeker
Manfred Stuhrmann
Michael A Morris
Teresa Casals
Carlo Castellani
Mireille Claustres
Harry Cuppens
Marie des Georges
Claude Ferec
Milan Macek
Pier-Franco Pignatti
Hans Scheffer
Marianne Schwartz
Michal Witt
Martin Schwarz
Emmanuelle Girodon
机构：
[1] Center for Human Genetics,Department of Biology and Medical Genetics
[2] Campus Gasthuisberg,Department of Human Genetics
[3] Institut für Humangenetik,Department of Molecular and Clinical Genetics
[4] Medizinische Hochschule,Department of Medical Genetics
[5] Laboratoire de Diagnostic moléculaire,undefined
[6] Service de Médecine Génétique,undefined
[7] University Hospital,undefined
[8] Centre de Genetica Medica i Molecular,undefined
[9] IDIBELL,undefined
[10] Cystic Fibrosis Centre,undefined
[11] Ospedale Civile Maggiore,undefined
[12] Service de Génétique Moléculaire,undefined
[13] CHU and INSERM U827,undefined
[14] Laboratoire de Génétique Moléculaire,undefined
[15] 2nd School of Medicine and University Hospital Motol,undefined
[16] Charles University Prague,undefined
[17] Section of Biology and Genetics,undefined
[18] University of Verona,undefined
[19] Radboud University Nijmegen Medical Centre,undefined
[20] Molekylærgenetisk laboratorium,undefined
[21] Klinisk genetisk afdeling,undefined
[22] Institute of Human Genetics,undefined
[23] St Mary's Hospital,undefined
[24] Service de Biochimie et Génétique,undefined
[25] Groupe hospitalier Henri Mondor-Albert Chenevier,undefined
[26] APHP,undefined
来源：
European Journal of Human Genetics | 2009年 / 17卷
关键词：
guidelines; recommendations; genetic testing; cystic fibrosis; CFTR-related disorders;
D O I：
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中图分类号：
学科分类号：
摘要：
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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页码：51 / 65
页数：14
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