Clinical Validation and Diagnostic Utility of Optical Genome Mapping for Enhanced Cytogenomic Analysis of Hematological Neoplasms

The current standard-of-care (SOC) cytogenetic techniques for the analysis of hematological malignancies include karyotyping, FISH, and CMA, which are labor-intensive, time and cost-prohibitive, and often do not reveal the genetic complexity of the tumor, demonstrating the need for alternative technology for better characterization of these tumors. Herein, we report the results from our clinical validation study and demonstrate the utility of optical genome mapping (OGM), evaluated using 92 sample runs (including replicates) that included 69 well-characterized unique samples (59 hematological neoplasms and 10 controls).

https://www.jmdjournal.org/article/S1525-1578(22)00290-2/fulltext?rss=yes

Source: Journal of Molecular Diagnostics - October 17, 2022 Category: Pathology Authors: Nikhil Shri Sahajpal, Ashis K. Mondal, Tatiana Tvrdik, Jennifer Hauenstein, Huidong Shi, Kristin K. Deeb, Debra Saxe, Alex R. Hastie, Alka Chaubey, Natasha M. Savage, Vamsi Kota, Ravindra Kolhe Tags: Regular Article Source Type: research