title: Evaluation of the Affymetrix CytoScan(®) Dx Assay for developmental delay.
abstract: The goal of molecular cytogenetic testing for children presenting with developmental delay (DD) is to identify or exclude genetic abnormalities that are associated with cognitive, behavioral and/or motor symptoms. Until 2010, chromosome analysis was the standard first-line genetic screening test for evaluation of patients with DD when a specific syndrome was not suspected. In 2010, The American College of Medical Genetics and several other groups recommended chromosomal microarray as the first-line test in children with DDs, multiple congenital anomalies and/or autism. This test is able to detect regions of genomic imbalances at a much finer resolution than G-banded karyotyping. Until recently, no chromosomal microarray testing had been approved by the US FDA. This article focuses on the use of the Affymetrix CytoScan(®) Dx Assay (Santa Clara, CA, USA), the first chromosomal microarray to receive FDA approval for the genetic evaluation of individuals with DD.
authors.affiliation: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1498, New York, NY, 10029, USA.
authors.forename: Bryn D
authors.initials: BD
authors.lastname: Webb
authors.forename: Rebecca J
authors.initials: RJ
authors.lastname: Scharf
authors.forename: Emily A
authors.initials: EA
authors.lastname: Spear
authors.forename: Lisa J
authors.initials: LJ
authors.lastname: Edelmann
authors.forename: Annemarie
authors.initials: A
authors.lastname: Stroustrup
mesh_terms: D056915:DNA Copy Number Variations; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics; D057069:Diagnostic Test Approval; D006801:Humans; D025202:Molecular Diagnostic Techniques; D020411:Oligonucleotide Array Sequence Analysis; D015203:Reproducibility of Results
keywords: Affymetrix CytoScan® Dx Assay; chromosomal microarray; genetic testing; global developmental delay; mental retardation