Standards and guidelines for CFTR mutation testing

Carolyn Sue Richards, Linda A. Bradley, Jean Amos, Bernice Allitto, Wayne W. Grody, Anne Maddalena, Matthew J. McGinnis, Thomas W. Prior, Bradley W. Popovich, Michael S. Watson

Research output: Contribution to journalReview articlepeer-review

109 Scopus citations


One mission of the ACMG Laboratory Quality Assurance (QA) Committee is to develop standards and guidelines for clinical genetics laboratories, including cytogenetics, biochemical, and molecular genetics specialties. This document was developed under the auspices of the Molecular Subcommittee of the Laboratory QA Committee by the Cystic Fibrosis (CF) Working Group. It was placed on the "fast track" to address the preanalytical, analytical, and postanalytical quality assurance practices of laboratories currently providing testing for CF. Due to the anticipated impact of the ACMG recommendation statement endorsing carrier testing of reproductive couples, it was viewed that CF testing would increase in volume and that the number of laboratories offering CF testing would also likely increase. Therefore, this document was drafted with the premise of providing useful information gained by experienced laboratory directors who have provided such testing for many years. In many instances, "tips" are given. However, these guidelines are not to be interpreted as restrictive or the only approach but to provide a helpful guide. Certainly, appropriately trained and credentialed laboratory directors have flexibility to utilize various testing platforms and design testing strategies with considerable latitude. We felt that it was essential to include technique-specific guidelines of several current technologies commonly used in laboratories providing CF testing, since three of the four technologies discussed are available commercially and are widely utilized. We take the view that these technologies will change, and thus this document will change with future review.

Original languageEnglish (US)
Pages (from-to)379-391
Number of pages13
JournalGenetics in Medicine
Issue number5
StatePublished - Sep 2002
Externally publishedYes


  • CFTR
  • Cystic fibrosis
  • Genetic testing
  • Medical genetics
  • Molecular diagnostics

ASJC Scopus subject areas

  • Genetics(clinical)


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