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

Eur J Hum Genet. 2009 Jan;17(1):51-65. doi: 10.1038/ejhg.2008.136. Epub 2008 Aug 6.

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.

Publication types

  • Practice Guideline
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Ethnic Groups
  • Female
  • Genetic Carrier Screening
  • Genetic Counseling / standards
  • Genetic Testing / 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

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator