Conventional Cytogenetic Analysis of Constitutional Abnormalities: A 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee.

Autor:	Boles B; From the Department of Pathology and Laboratory Medicine, University of Vermont Medical Center, Burlington, Vermont (Boles, Gardner)., Gardner JA; From the Department of Pathology and Laboratory Medicine, University of Vermont Medical Center, Burlington, Vermont (Boles, Gardner)., Rehder CW; Department of Pathology, Duke University School of Medicine, Durham, North Carolina (Rehder)., Levy B; Department of Pathology and Cell Biology, Columbia University, New York, New York (Levy)., Velagaleti GV; Department of Pathology and Laboratory Medicine, University of Texas Health Science Center at San Antonio, San Antonio, Texas (Velagaleti)., Toydemir RM; Quest Diagnostics, San Juan Capistrano, California (Toydemir)., Sukov WR; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota (Sukov, Larson, Peterson)., Larson DP; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota (Sukov, Larson, Peterson)., Cao Y; Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri (Cao)., Mixon C; NeoGenomics Laboratories, Nashville, Tennessee (Mixon)., Vanderscheldon RK; Department of Pathology, University of Pittsburgh, Pittsburgh, Pennsylvania (Vanderscheldon)., Zou YS; Department of Pathology, Johns Hopkins School of Medicine, Baltimore, Maryland (Zou)., Astbury C; Department of Laboratory Medicine, Cleveland Clinic, Cleveland, Ohio (Astbury)., Tsuchiya KD; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio (Tsuchiya)., Peterson JF; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota (Sukov, Larson, Peterson).
Jazyk:	angličtina
Zdroj:	Archives of pathology & laboratory medicine [Arch Pathol Lab Med] 2024 Jun 05. Date of Electronic Publication: 2024 Jun 05.
DOI:	10.5858/arpa.2024-0048-CP
Abstrakt:	Context.—: The joint College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee works to ensure competency and proficiency of clinical cytogenetics testing laboratories through proficiency testing programs for various clinical tests offered by such laboratories, including the evaluation of constitutional abnormalities. Objective.—: To review and analyze 20 years of constitutional chromosome analysis proficiency testing results (2003-2022), primarily utilizing G-banded karyograms. Design.—: A retrospective review of results from 2003 through 2022 was performed, identifying challenges addressing constitutional disorders. The chromosomal abnormalities and overall performance were evaluated. Results.—: A total of 184 cases from 161 proficiency testing challenges were administered from 2003 through 2022. Challenges consisted of metaphase images and accompanying clinical history for evaluation of numerical and/or structural abnormalities. Of the 184 cases, only 2 (1%) failed to reach an 80% grading consensus for recognition of the abnormality. Both cases illustrated the limitations of correctly characterizing some chromosomal abnormalities, including recombinant chromosomal abnormalities and isochromosome identification. In addition, 2 cases failed to reach a consensus for nomenclature reporting: 1 with an isochromosome and another with a duplication. Conclusions.—: This 20-year review illustrates the high rate of competency and proficiency of cytogenetic laboratories in the correct identification of constitutional chromosome abnormalities. Competing Interests: The authors have no relevant financial interest in the products or companies described in this article. (© 2024 College of American Pathologists.)
Databáze:	MEDLINE
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