Work

Evaluation of the Affymetrix CytoScan®Dx Assay for developmental delay

Year: 2014

Type: article

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.

Source: Expert Review of Molecular Diagnostics

DOI: 10.1586/14737159.2015.975213

Authors: Bryn D Webb, Rebecca J Scharf, Emily A Spear, Lisa J Edelmann, Annemarie Stroustrup

Institutions: Icahn School of Medicine at Mount Sinai, University of Virginia

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: National Institute of General Medical Sciences, National Institute of Environmental Health Sciences