Next-Generation Cytogenomic Characterization of Prenatal Cases by Optical Genome Mapping

Augusta University
April 20, 2021
 

Dr. Alex Hastie / Dr. Nikhil Sahajpal

In this Spotlight Theater, Dr. Sahajpal discusses the current landscape and gold-standards for prenatal testing as compared to Optical Genome Mapping and it’s potential to identify unique genomic abnormalities and 100% concordance with Karyotyping, FISH and Chromosomal Microarray.  As he steps through their clinical validation of Optical Genome Mapping for the analysis of prenatal cases, you will see how this technology has the potential to replace current, standard diagnostic testing procedures using this single assay.