CLSI MM01

Molecular Testing for Heritable Genetics and Specimen Identification, 4th Edition

This guideline provides recommendations for detecting and reporting genetic variation associated with heritable conditions.

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Chairholder: Lawrence J. Jennings, MD, PhD, D(ABHI), FCAP

Date of Publication: June 26, 2023

Order Code PDF: CLSI MM01Ed4E
ISBN Number: 978-1-68440-190-1

Order Code Print: CLSI MM01Ed4
ISBN Number: 978-1-68440-189-5

Edition: Fourth

Pages: 172

CLSI MM01 Additional Details

A guideline for global application developed through the Clinical and Laboratory Standards Institute consensus process.

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CLSI MM01 Abstract

Clinical and Laboratory Standards Institute guideline MM01—Molecular Testing for Heritable Genetics and Specimen Identification provides general recommendations for all phases of the operation of a molecular diagnostic laboratory focused on detecting and reporting genetic variation associated with heritable conditions. It explains different types of genetic variation, along with the corresponding standardized nomenclature. Various methods of detecting and characterizing genetic variants are described, as well as test-specific requirements for validation and quality assurance. This guideline also discusses special considerations for analyzing and reporting genetic variation associated with heritable conditions.