CAP/ACMG proficiency testing for biochemical genetics laboratories: a summary of performance View Full Text


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Article Info

DATE

2018-01

AUTHORS

College of American Pathologists and American College of Medical Genetics and Genomics Biochemical and Molecular Genetics Resource Committee, Devin Oglesbee, Tina M Cowan, Marzia Pasquali, Timothy C Wood, Karen E Weck, Thomas Long, Glenn E Palomaki

ABSTRACT

PurposeTesting for inborn errors of metabolism is performed by clinical laboratories worldwide, each utilizing laboratory-developed procedures. We sought to summarize performance in the College of American Pathologists' (CAP) proficiency testing (PT) program and identify opportunities for improving laboratory quality. When evaluating PT data, we focused on a subset of laboratories that have participated in at least one survey since 2010.MethodsAn analysis of laboratory performance (2004 to 2014) on the Biochemical Genetics PT Surveys, a program administered by CAP and the American College of Medical Genetics and Genomics. Analytical and interpretive performance was evaluated for four tests: amino acids, organic acids, acylcarnitines, and mucopolysaccharides.ResultsSince 2010, 150 laboratories have participated in at least one of four PT surveys. Analytic sensitivities ranged from 88.2 to 93.4%, while clinical sensitivities ranged from 82.4 to 91.0%. Performance was higher for US participants and for more recent challenges. Performance was lower for challenges with subtle findings or complex analytical patterns.ConclusionUS clinical biochemical genetics laboratory proficiency is satisfactory, with a minority of laboratories accounting for the majority of errors. Our findings underscore the complex nature of clinical biochemical genetics testing and highlight the necessity of continuous quality management. More... »

PAGES

83

References to SciGraph publications

  • 2014-01. Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders in GENETICS IN MEDICINE
  • 2016-12. Highly accurate molecular genetic testing for HFE hereditary hemochromatosis: results from 10 years of blinded proficiency surveys by the College of American Pathologists in GENETICS IN MEDICINE
  • 2015-01. Molecular testing for the BRCA1 and BRCA2 Ashkenazi Jewish founder mutations: a report on the College of American Pathologists proficiency testing surveys in GENETICS IN MEDICINE
  • 2006-09. Oversight of US genetic testing laboratories in NATURE BIOTECHNOLOGY
  • 2015-03. Molecular genetic testing for cystic fibrosis: laboratory performance on the College of American Pathologists external proficiency surveys in GENETICS IN MEDICINE
  • 2008-12. Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2014-09. Results of the College of American Pathology/American College of Medical Genetics and Genomics external proficiency testing from 2006 to 2013 for three conditions prevalent in the Ashkenazi Jewish population in GENETICS IN MEDICINE
  • 2016-12. Results from an external proficiency testing program: 11 years of molecular genetics testing for myotonic dystrophy type 1 in GENETICS IN MEDICINE
  • 2012-03. Molecular genetic testing for fragile X syndrome: laboratory performance on the College of American Pathologists proficiency surveys (2001–2009) in GENETICS IN MEDICINE
  • 2012-01. Assessing the analytic validity of molecular testing for Huntington disease using data from an external proficiency testing survey in GENETICS IN MEDICINE
  • 1994-01. Quality control for selective screening of inborn errors of metabolism in EUROPEAN JOURNAL OF PEDIATRICS
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    http://scigraph.springernature.com/pub.10.1038/gim.2017.61

    DOI

    http://dx.doi.org/10.1038/gim.2017.61

    DIMENSIONS

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    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/28661487


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