Genome-wide arrays: Quality criteria and platforms to be used in routine diagnostics

Authors

  • Joris R. Vermeesch,

    Corresponding author
    1. Laboratory for Cytogenetics and Genome Research, Centre for Human Genetics, KU Leuven, University Hospital Leuven, Leuven, Belgium
    • Laboratory for Cytogenetics and Genome Research, Centre for Human Genetics, KU Leuven, UZ Leuven, Campus Gasthuisberg, Herestraat 49, B-3000 Leuven, Belgium
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  • Paul D. Brady,

    1. Laboratory for Cytogenetics and Genome Research, Centre for Human Genetics, KU Leuven, University Hospital Leuven, Leuven, Belgium
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  • Damien Sanlaville,

    1. HCL, Cytogenetics Department and INSERM U1028, CNRS UMR5292, TIGER Team, Lyon Neuroscience Research Centre, Lyon, France
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  • Klaas Kok,

    1. Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands
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  • Rosalind J. Hastings

    1. CEQA and UK NEQAS for Clinical Cytogenetics, Women's Centre, Oxford University Hospitals NHS Trust, Oxford, United Kingdom
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  • For the Focus on CNV Detection with Diagnostic Arrays

Abstract

Whole-genome analysis using genome-wide arrays, also called “genomic arrays,” “microarrays,” or “arrays,” has become the first-tier diagnostic test for patients with developmental abnormalities and/or intellectual disabilities. In addition to constitutional anomalies, genomic arrays are also used to diagnose acquired disorders. Despite the rapid implementation of these technologies in diagnostic laboratories, external quality control schemes (such as CEQA, EMQN, UK NEQAS, and the USA QA scheme CAP) and interlaboratory comparisons show that there are huge differences in quality, interpretation, and reporting among laboratories. We offer guidance to laboratories to help assure the quality of array experiments and to standardize minimum detection resolution, and we also provide guidelines to standardize interpretation and reporting. Hum Mutat 33:906–915, 2012. © 2012 Wiley Periodicals, Inc.

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