title: A standardized framework for the validation and verification of clinical molecular genetic tests.
abstract: 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.
authors.affiliation: National Genetics Reference Laboratory (Wessex), Salisbury District Hospital, Salisbury, UK. chris.mattocks@salisbury.nhs.uk
authors.forename: Christopher J
authors.initials: CJ
authors.lastname: Mattocks
authors.forename: Michael A
authors.initials: MA
authors.lastname: Morris
authors.forename: Gert
authors.initials: G
authors.lastname: Matthijs
authors.forename: Elfriede
authors.initials: E
authors.lastname: Swinnen
authors.forename: Anniek
authors.initials: A
authors.lastname: Corveleyn
authors.forename: Els
authors.initials: E
authors.lastname: Dequeker
authors.forename: Clemens R
authors.initials: CR
authors.lastname: Müller
authors.forename: Victoria
authors.initials: V
authors.lastname: Pratt
authors.forename: Andrew
authors.initials: A
authors.lastname: Wallace
mesh_terms: D016001:Confidence Intervals; D018628:Gene Dosage; D005820:Genetic Testing / Q000379:methods* / Q000592:standards*; D006284:Health Plan Implementation; D006801:Humans; D008967:Molecular Biology / Q000379:methods* / Q000592:standards*; D016133:Polymerase Chain Reaction; D012015:Reference Standards; D015203:Reproducibility of Results; D018401:Sample Size; D012680:Sensitivity and Specificity; D054928:Validation Studies as Topic