8 Scopus citations

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.

Original languageEnglish
Pages (from-to)185-192
Number of pages8
JournalExpert Review of Molecular Diagnostics
Volume15
Issue number2
DOIs
StatePublished - 1 Feb 2015

Keywords

  • Affymetrix CytoScan∞Dx Assay
  • chromosomal microarray
  • genetic testing
  • global developmental delay
  • mental retardation

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