A standardized framework for the validation and verification of clinical molecular genetic tests

Eur J Hum Genet. 2010 Dec;18(12):1276-88. doi: 10.1038/ejhg.2010.101. Epub 2010 Jul 28.


The validation and verification of laboratory methods and procedures before their use in clinical testing is essential for providing a safe and useful service to clinicians and patients. This paper outlines the principles of validation and verification in the context of clinical human molecular genetic testing. We describe implementation processes, types of tests and their key validation components, and suggest some relevant statistical approaches that can be used by individual laboratories to ensure that tests are conducted to defined standards.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Confidence Intervals
  • Gene Dosage
  • Genetic Testing / methods*
  • Genetic Testing / standards*
  • Health Plan Implementation
  • Humans
  • Molecular Biology / methods*
  • Molecular Biology / standards*
  • Polymerase Chain Reaction
  • Reference Standards
  • Reproducibility of Results
  • Sample Size
  • Sensitivity and Specificity
  • Validation Studies as Topic*