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The CAP/ACMG CYCGH proficiency testing program: 10 years in review.

Yassmine Akkari1, Laura Conlin2, Diana DeAvila3

  • 1Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH; Department of Pathology, The Ohio State University, Columbus, OH.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
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PubMed
Summary
This summary is machine-generated.

The College of American Pathologists

Keywords:
CMAChromosomal microarray analysisClinical laboratory performance evaluationCytogenomic microarray analysisProficiency testing

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Area of Science:

  • Clinical Genetics
  • Molecular Diagnostics
  • Medical Laboratory Science

Background:

  • The College of American Pathologists (CAP) has provided proficiency testing (PT) for constitutional copy-number variation (CNV) detection since 2008.
  • Proficiency testing is crucial for ensuring accurate and reliable diagnostic testing in clinical laboratories.

Purpose of the Study:

  • To review and summarize data from the CAP's constitutional (CYCGH) PT program from 2011-2021.
  • To analyze participant performance, program evolution, and the impact of ungraded challenges.

Main Methods:

  • Review of 22 CYCGH PT challenges issued between 2011 and 2021.
  • Assessment of laboratory enrollment trends and performance metrics over time.
  • Analysis of program modifications and reasons for non-consensus results.

Main Results:

  • Consistent high proficiency demonstrated by participating laboratories.
  • Increased overall participation in the CYCGH PT program.
  • Two major program revisions occurred during the study period.

Conclusions:

  • The CYCGH PT program effectively assesses both analytical performance and interpretation for CNV detection.
  • The program has adapted to advancements in CNV detection technologies.
  • Exploration of a platform-agnostic CNV PT program is underway.