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Revision A, November 1, 2012

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Quality Management for Molecular Genetic Testing; Approved Guideline

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VOL 32; NO 15
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Description / Abstract:

This guideline addresses quality management activities for nucleic acid–based human molecular genetic testing, including the development and maintenance of a QMS for improving the quality of molecular genetic laboratory services. MM20 provides guidance for implementing the quality system framework and applying the policies, processes, and procedures for quality system essentials (QSEs) to all aspects of molecular genetic laboratory services. The general principles and essentials of a QMS, as described in international standards and guidelines such as the International Organization for Standardization (ISO) medical laboratory standard ISO 15189 and CLSI document GP26, are referenced and discussed in the context of molecular genetic testing. This guideline also stresses quality management activities in all facets of a molecular genetic laboratory's path of workflow, including assuring the quality of the laboratory's interactions with users and enhancing laboratory/user communications. These activities should improve the utilization of genetic laboratory services and achieve optimal patient outcomes. CLSI guidelines that provide specific details on the use of particular molecular methods for genetic diseases, such as CLSI documents MM01, MM12, MM17,5 and MM19, and other guidelines addressing molecular methods are referenced and their use in combination with this document is discussed.

This guideline is intended for use by medical laboratories that perform molecular genetic testing for inherited or acquired conditions, including pharmacogenetic testing and molecular oncology testing for medical purposes. It also provides a useful reference to individuals or organizations that assess laboratory quality and competence in the area of molecular genetic testing.

Though many quality system principles described in this document are applicable to most medical laboratories, this guideline does not intend to address, in depth, molecular infectious disease testing, biochemical genetic testing, cytogenetic testing, the specific technical processes of molecular cytogenetic testing (eg, array comparative genome hybridization), massively parallel sequencing (eg, whole exome or whole genome sequencing), molecular testing not for clinical purposes, or direct-to-consumer laboratory services. However, the overall quality system framework and path of workflow should be appropriate for quality management and quality improvement of most laboratory examinations involving nucleic acid– based testing.