Section E6.7-6.12 of the American College of Medical Genetics and Genomics (ACMG) Technical Laboratory Standards: Cytogenomic studies of acquired chromosomal abnormalities in solid tumors

ACMG Laboratory Quality Assurance Committee

Research output: Contribution to journalArticlepeer-review

Abstract

Clinical cytogenomic studies of solid tumor samples are critical to the diagnosis, prognostication, and treatment selection for cancer patients. An overview of current cytogenomic techniques for solid tumor analysis is provided, including standards for sample preparation, clinical and technical considerations, and documentation of results. With the evolving technologies and their application in solid tumor analysis, these standards now include sequencing technology and optical genome mapping, in addition to the conventional cytogenomic methods, such as G-banded chromosome analysis, fluorescence in situ hybridization, and chromosomal microarray analysis. This updated Section E6.7-6.12 supersedes the previous Section E6.5-6.8 in Section E: Clinical Cytogenetics of the American College of Medical Genetics and Genomics Standards for Clinical Genetics Laboratories.

Original languageEnglish (US)
Article number101070
JournalGenetics in Medicine
Volume26
Issue number4
DOIs
StatePublished - Apr 2024

Keywords

  • Chromosomal microarray analysis
  • Fluorescence in situ hybridization
  • G-banded chromosome analysis
  • Optical genome mapping
  • Solid tumors

ASJC Scopus subject areas

  • Genetics(clinical)

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