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 presents 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 also illustrates 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.