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CLSI MM01-A2

olecular Diagnostic Methods for Genetic Diseases; Approved Guideline - Second Edition

Clinical and Laboratory Standards Institute document MM1-A2 - Molecular Diagnostic Methods for Genetic Diseases; Approved Guideline - Second Edition provides general recommendations for all phases of the operation of a molecular genetics diagnostic laboratory. The recommendations cover nomenclature for human pedigrees and the designation of mutations; laboratory safety; and "front-end" activities, such as intake information, specimen identification and accessioning, and sample preparation. Other topics addressed are molecular analytical techniques, test validation and characterization, quality assurance, results reporting, and selection of referral laboratories. The guideline also includes definitions of selected terms commonly used in the theory and practice of molecular genetics.


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