title: Genome-wide arrays: quality criteria and platforms to be used in routine diagnostics.
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.
authors.affiliation: Laboratory for Cytogenetics and Genome Research, Centre for Human Genetics, KU Leuven, University Hospital Leuven, Leuven, Belgium. joris.vermeesch@uzleuven.be
authors.forename: Joris R
authors.initials: JR
authors.lastname: Vermeesch
authors.forename: Paul D
authors.initials: PD
authors.lastname: Brady
authors.forename: Damien
authors.initials: D
authors.lastname: Sanlaville
authors.forename: Klaas
authors.initials: K
authors.lastname: Kok
authors.forename: Rosalind J
authors.initials: RJ
authors.lastname: Hastings
mesh_terms: D055028:Comparative Genomic Hybridization / Q000592:standards*; D005260:Female; D055106:Genome-Wide Association Study / Q000379:methods* / Q000592:standards*; D006801:Humans; D008297:Male; D009030:Mosaicism; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods / Q000592:standards; D011786:Quality Control; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity