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Sequencing methods for genotyping have moved from the research laboratory into the clinical laboratory. Sequencing is an assay format of choice for very high-complexity genotyping, especially when hundreds or thousands of bases of genetic sequence are analyzed. Clinical and Laboratory Standards Institute document MM09-A2-Nucleic Acid Sequencing Methods in Diagnostic Laboratory Medicine; Approved Guideline-Second Edition addresses diagnostic sequencing using both automated capillary electrophoresis sequencers and massively parallel sequencing instruments. Topics covered include specimen collection and handling; isolation and extraction of nucleic acid; template preparation; sequence generation, alignment, and assembly; validation and verification; ongoing QA; and reporting results.
 

Document History

  1. CLSI MM09Ed3E


    Human Genetic and Genomic Testing Using Traditional and High-Throughput Nucleic Acid Sequencing Methods, MM09Ed3E

    • Most Recent
  2. CLSI MM09-A2

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    Nucleic Acid Sequencing Methods in Diagnostic Laboratory Medicine; Approved Guideline, MM09A2

    • Historical Version
  3. CLSI MM09-A


    Nucleic Acid Sequencing Methods in Diagnostic Laboratory Medicine; Approved Guideline, MM09A

    • Historical Version