TY - JOUR
T1 - Section E6.7-6.12 of the American College of Medical Genetics and Genomics (ACMG) Technical Laboratory Standards
T2 - Cytogenomic studies of acquired chromosomal abnormalities in solid tumors
AU - ACMG Laboratory Quality Assurance Committee
AU - Church, Alanna J.
AU - Akkari, Yassmine
AU - Deeb, Kristin
AU - Kolhe, Ravindra
AU - Lin, Fumin
AU - Spiteri, Elizabeth
AU - Wolff, Daynna J.
AU - Shao, Lina
N1 - Publisher Copyright:
© 2024 American College of Medical Genetics and Genomics
PY - 2024/4
Y1 - 2024/4
N2 - 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.
AB - 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.
KW - Chromosomal microarray analysis
KW - Fluorescence in situ hybridization
KW - G-banded chromosome analysis
KW - Optical genome mapping
KW - Solid tumors
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U2 - 10.1016/j.gim.2024.101070
DO - 10.1016/j.gim.2024.101070
M3 - Article
C2 - 38376505
AN - SCOPUS:85187683936
SN - 1098-3600
VL - 26
JO - Genetics in Medicine
JF - Genetics in Medicine
IS - 4
M1 - 101070
ER -