Director, Cytogenomics Laboratory, Department of Pathology and Laboratory Medicine at Children's Hospital Los Angeles, Associate Professor of Clinical Pathology, Keck School of Medicine, USC
BIOGRAPHY
JAN 28, 2021 7:00 AM PST
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Utilization of Optical Genome Mapping in Detection and Characterization of Rare Genetic Markers in Pediatric Leukemias
Speaker
Abstract
Date: January 28, 2021
Time: 7:00am (PST), 10:00am (EST)
Many of the newly recognized clinically significant genetic markers in pediatric leukemias cannot be reliably detected by routine diagnostic assays; they remain cryptic by karyotype analysis and are typically not interrogated by FISH testing or by diagnostic next-generation sequencing panels.
In this webinar, Dr. Raca will present results of a pilot study in which Optical Genome Mapping (OGM) revealed clinically significant structural variants in pediatric leukemias, which were missed by comprehensive multi-modal clinical testing. She will also illustrate the application of OGM to study a rare structural abnormality of the PAX5 gene in pediatric B-lymphoblastic leukemia, which could not be accurately characterized by other molecular methods.
Learning Objectives
- Outline the main advantages of OGM compared to conventional cytogenetics (karyotype analysis).
- Summarize how application of OGM facilitates detection of rare clinically significant structural variants in pediatric leukemias
- Describe how application of OGM facilitates detection and characterization of repeat expansions in constitutional disorders and tumor samples.
Webinars will be available for unlimited on-demand viewing after live event.
LabRoots is approved as a provider of continuing education programs in the clinical laboratory sciences by the ASCLS P.A.C.E. ® Program. By attending this webinar, you can earn 1 Continuing Education credit once you have viewed the webinar in its entirety.
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