A standardized framework for the validation and verification of clinical molecular genetic tests.
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.
Mattocks
Christopher J
CJ
National Genetics Reference Laboratory (Wessex), Salisbury District Hospital, Salisbury, UK. chris.mattocks@salisbury.nhs.uk
Morris
Michael A
MA
Matthijs
Gert
G
Swinnen
Elfriede
E
Corveleyn
Anniek
A
Dequeker
Els
E
Müller
Clemens R
CR
Pratt
Victoria
V
Wallace
Andrew
A
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