CLSI MM09

Human Genetic and Genomic Testing Using Traditional and High-Throughput Nucleic Acid Sequencing Methods, 3rd Edition

This guideline, in conjunction with instructional worksheets and educational examples, provides step-by-step recommendations for design, development, validation, results reporting, and continual quality management of clinical tests based on next-generation sequencing and Sanger sequencing.

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Chairholder: Birgit Funke, PhD, FACMG

Date of Publication: April 20, 2023

Order Code PDF: CLSI MM09Ed3E
ISBN Number: 978-1-68440-175-8

Order Code Print: CLSI MM09Ed3
ISBN Number: 978-1-68440-174-1

Edition: Third

Pages: 160

CLSI MM09 Additional Details

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The U.S. Food and Drug Administration (FDA) has evaluated and recognized this approved-level consensus standard for use in satisfying a regulatory requirement.

CLSI MM09 Abstract

Sequencing-based clinical tests have evolved from single-gene tests to whole-genome tests. Next-generation sequencing (NGS) technologies have largely replaced Sanger sequencing and are firmly established in the medical management of hereditary disorders, as well as in tumor testing. Newer clinical NGS applications include human leukocyte antigen typing, noninvasive prenatal testing, sequencing of circulating tumor DNA in peripheral blood, and RNA sequencing. Although NGS applications have undergone major technical simplifications, clinical implementation continues to be complex. Clinical and Laboratory Standards Institute guideline MM09—Human Genetic and Genomic Testing Using Traditional and High-Throughput Nucleic Acid Sequencing Methods provides recommendations for design, development, validation, results reporting, and continual quality management of NGS-based tests, as well as Sanger sequencing–based tests. In conjunction with instructional worksheets and educational examples, MM09 provides step-by-step guidance to help medical laboratories translate regulatory requirements into clinical practice.