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Standards and guidelines for CFTR mutation testing.

Carolyn Sue Richards1, Linda A Bradley, Jean Amos

  • 1Molecular Subcommittee of the Laboratory Quality Assurance Committee, American College of Medical Genetics, 9650 Rockville Pike, Bethesda, MD 20914-3998, USA.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|October 24, 2002
PubMed
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This document provides quality assurance guidelines for cystic fibrosis (CF) testing in molecular genetics laboratories. It addresses preanalytical, analytical, and postanalytical practices to support increased CF genetic testing volumes.

Area of Science:

  • Molecular Genetics
  • Clinical Laboratory Science

Background:

  • The American College of Medical Genetics (ACMG) Laboratory Quality Assurance (QA) Committee aims to establish standards for clinical genetics laboratories.
  • The Cystic Fibrosis (CF) Working Group developed these guidelines to address QA practices in CF testing.
  • Anticipated increases in CF carrier testing necessitate updated laboratory guidelines.

Framework:

  • Guidelines cover preanalytical, analytical, and postanalytical phases of CF testing.
  • Focus on quality assurance practices for molecular genetics laboratories.
  • Includes technique-specific guidance for commonly used CF testing technologies.

Implementation:

  • Developed by experienced laboratory directors with extensive CF testing experience.
  • Provides practical 'tips' and helpful guidance, not restrictive mandates.

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  • Acknowledges flexibility for laboratory directors in choosing testing platforms and strategies.

    • Implications:

    • Aims to ensure high-quality cystic fibrosis genetic testing as demand rises.
    • Supports laboratories in implementing robust QA practices for CF diagnostics.
    • Recognizes the evolving nature of genetic testing technologies, anticipating future revisions.