1. ¹Center for Human Genetics, Campus Gasthuisberg, KULeuven, Belgium
2. ²Institut für Humangenetik, Medizinische Hochschule, Hannover, Germany
3. ³Laboratoire de Diagnostic moléculaire, Service de Médecine Génétique, University Hospital, Geneva, Switzerland
4. ⁴Centre de Genetica Medica i Molecular, IDIBELL, Barcelona, Spain
5. ⁵Cystic Fibrosis Centre, Ospedale Civile Maggiore, Verona, Italy
6. ⁶Service de Génétique Moléculaire, CHU and INSERM U827, Montpellier, France
7. ⁷Laboratoire de Génétique Moléculaire, Brest, France
8. ⁸Department of Biology and Medical Genetics, 2nd School of Medicine and University Hospital Motol, Charles University Prague, Czech Republic
9. ⁹Section of Biology and Genetics, University of Verona, Italy
10. ¹⁰Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Nederlands
11. ¹¹Molekylærgenetisk laboratorium, Klinisk genetisk afdeling, Copenhagen, Denmark
12. ¹²Department of Molecular and Clinical Genetics, Institute of Human Genetics, Poznan, Poland
13. ¹³Department of Medical Genetics, St Mary's Hospital, Manchester, UK
14. ¹⁴Service de Biochimie et Génétique, Groupe hospitalier Henri Mondor-Albert Chenevier, APHP, Créteil, France

Correspondence: Dr E Girodon, Service de Biochimie et Génétique, Groupe hospitalier Henri Mondor-Albert Chenevier, APHP, 51, av du Maréchal de Lattre de Tassigny, Créteil 94010, France. Tel: 33 1 49 81 28 57; Fax: 33 1 49 81 28 42; E-mail: emmanuelle.girodon@inserm.fr

Received 16 January 2008; Revised 23 June 2008; Accepted 26 June 2008; Published online 6 August 2008.

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.