CLSI MM01
Molecular Testing for Heritable Genetics and Specimen Identification
This CLSI guideline provides comprehensive recommendations for molecular diagnostic laboratories detecting and reporting genetic variations linked to heritable conditions. It covers the types of genetic variation, standardized nomenclature, detection methods, test validation, quality assurance, and reporting considerations to ensure accuracy and consistency in genetic testing.
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{{FormatPrice(nonMemberPrice)}} List PriceClinical 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.
This guideline replaces the previous edition of the approved guideline, MM01-A3, published in 2012. Several changes were made in this edition, including:
• Removing information on oncology markers and somatic or acquired genetic signatures associated with nonhematological cancers – See CLSI documents MM05, MM21, and MM233 for information on these topics.
• Updating the types of heritable genetic variation and nomenclature, including mitochondrial and epigenetic disorders (see CLSI document MM09)
• Revising methods and technologies, including next-generation sequencing for detection of genetic variation
• Updating considerations for preexamination, examination, and postexamination processes, with a focus on challenges posed by rare, heritable diseases
• Adding special considerations for accurate reporting and interpretation of carrier screening and noninvasive prenatal testing
• Adding special considerations for bioinformatics and genetic counseling
This guideline has been revised by experienced molecular laboratory professionals to focus on germline genetic diagnostic testing. It provides information for laboratories implementing molecular assays for inherited disorders, including both distributed test systems authorized by applicable regulatory agencies and complex laboratory-developed tests (LDTs). This guideline is intended for use by experienced laboratory directors, supervisors, and manufacturers involved in assay development, validation, verification, and interpretation of molecular testing. Because molecular diagnostics is multidisciplinary in nature, this guideline provides an overview of the subspecialties that use similar technology or performance specification details. New to this edition are clinical applications of genetic identity testing. These applications include monitoring bone marrow transplant engraftment in hematopoietic stem cell transplantation, tracing sample provenance, and detecting sample contamination. Owing to advances in preimplantation diagnostics and prenatal testing, descriptions of noninvasive and cell-free DNA (cfDNA) detection methods are included. This guideline does not cover biochemical genetics, paternity and forensics testing, blood banking, or detection of bioterrorism agents that require biosafety levels 3 or higher.
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.
This guideline replaces the previous edition of the approved guideline, MM01-A3, published in 2012. Several changes were made in this edition, including:
• Removing information on oncology markers and somatic or acquired genetic signatures associated with nonhematological cancers – See CLSI documents MM05, MM21, and MM233 for information on these topics.
• Updating the types of heritable genetic variation and nomenclature, including mitochondrial and epigenetic disorders (see CLSI document MM09)
• Revising methods and technologies, including next-generation sequencing for detection of genetic variation
• Updating considerations for preexamination, examination, and postexamination processes, with a focus on challenges posed by rare, heritable diseases
• Adding special considerations for accurate reporting and interpretation of carrier screening and noninvasive prenatal testing
• Adding special considerations for bioinformatics and genetic counseling
This guideline has been revised by experienced molecular laboratory professionals to focus on germline genetic diagnostic testing. It provides information for laboratories implementing molecular assays for inherited disorders, including both distributed test systems authorized by applicable regulatory agencies and complex laboratory-developed tests (LDTs). This guideline is intended for use by experienced laboratory directors, supervisors, and manufacturers involved in assay development, validation, verification, and interpretation of molecular testing. Because molecular diagnostics is multidisciplinary in nature, this guideline provides an overview of the subspecialties that use similar technology or performance specification details. New to this edition are clinical applications of genetic identity testing. These applications include monitoring bone marrow transplant engraftment in hematopoietic stem cell transplantation, tracing sample provenance, and detecting sample contamination. Owing to advances in preimplantation diagnostics and prenatal testing, descriptions of noninvasive and cell-free DNA (cfDNA) detection methods are included. This guideline does not cover biochemical genetics, paternity and forensics testing, blood banking, or detection of bioterrorism agents that require biosafety levels 3 or higher.