Technical validation and prospective clinical utility of optical genome mapping in acute leukemia workup: insights from 200 cases following deployment as a first-line diagnostic test in a tertiary care center

In November 2023, our Canadian tertiary care facility implemented optical genome mapping (OGM) as a first-line diagnostic test for adults with newly diagnosed acute leukemias. Here we report on the analytical performance and clinical utility of OGM alongside karyotype, fluorescence in situ hybridization (FISH), and next-generation sequencing (NGS). During test validation, OGM demonstrated robust analytical performance, reproducibility, and limits of detection, revealing 100% specificity, 96.1% sensitivity, and 98.0% accuracy.