• molecular karyotyping;
  • array CGH;
  • SNP array;
  • copy number variation;
  • genomic array;
  • genome-wide array;
  • quality criteria


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.