TY - JOUR
T1 - Evaluation of the Affymetrix CytoScan® Dx Assay for developmental delay
AU - Webb, Bryn D.
AU - Scharf, Rebecca J.
AU - Spear, Emily A.
AU - Edelmann, Lisa J.
AU - Stroustrup, Annemarie
N1 - Funding Information:
BD Webb is supported by NIH training Grant T32 GM082773-06. A Stroustrup is supported by Grant K23ES022268 from the National Institutes of Environmental Health Sciences. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.
Publisher Copyright:
© 2015 Informa UK, Ltd.
PY - 2015/2/1
Y1 - 2015/2/1
N2 - 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.
AB - 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.
KW - Affymetrix CytoScan∞Dx Assay
KW - chromosomal microarray
KW - genetic testing
KW - global developmental delay
KW - mental retardation
UR - http://www.scopus.com/inward/record.url?scp=84921349297&partnerID=8YFLogxK
U2 - 10.1586/14737159.2015.975213
DO - 10.1586/14737159.2015.975213
M3 - Review article
C2 - 25350348
AN - SCOPUS:84921349297
SN - 1473-7159
VL - 15
SP - 185
EP - 192
JO - Expert Review of Molecular Diagnostics
JF - Expert Review of Molecular Diagnostics
IS - 2
ER -