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May 15, 2019
Sponsored by
Thermo Fisher Scientific

Discovery of Exon-Level CNVs in Daily Practice for Constitutional Genome Testing

Genome Webinar

Team Leader, Intellectual Disability & Congenital Anomalies, Department of Human Genetics, Radboud University Medical Center

This webinar discusses how Radboud University Medical Center’s Department of Human Genetics is using exon-level copy number variant (CNV) detection by microarray to assist its efforts in constitutional genome testing. 

Nicole de Leeuw of Radboud University Medical Center shares how CytoScan XON, a high-sensitivity exon-level microarray, compares with CytoScan HD in constitutional cytogenomics, in both prenatal and postnatal samples with congenital anomalies and/or neurodevelopmental delay.

This webinar shares data supporting the use of CytoScan XON to test multiple genes for intragenic CNVs in the human genome and demonstrates how the CytoScan XON yields good array test results with DNA samples from a variety of tissues of origin.

For Research Use Only. Not For Use In Diagnostic Procedures.

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