This revision of MM01 provides guidelines for laboratory testing practices, methods, and technologies for detection of inherited and somatic genetic variation. Because not all genetic testing is done for the purpose of diagnosing disease, the title of this document has been revised to reflect the wide range of indications for molecular genetic testing. This document is intended as a source of reference material for medical genetic testing laboratories performing nucleic acid-based testing. This information includes performance characteristics of the total molecular genetics laboratory testing process, ie, preexamination, examination, and postexamination. This document is intended to provide guidance to experienced laboratory directors, supervisors, and manufacturers involved in assay development, verification, validation, and interpretation of molecular genetic testing.
This document is not intended to serve as an introductory manual for laboratories without experience in molecular genetics. Conversely, the performance characteristics of complex, multivariate diagnostic assays that employ nontransparent, mathematical algorithms to interpret genetic risk or likelihood of drug response are beyond the scope and consideration of this guideline but are addressed in CLSI document MM17. Although some description of pharmacogenetic traits has been included, a full consideration of both targeted therapeutics and inherited variation in drug metabolism and response is beyond the scope of this guideline. This document also does not include molecular virology or molecular microbiology. These topics are addressed in CLSI documents MM03, MM06, MM10, MM11, and MM18.