Pb1786: Comparison of Optical Genome Mapping With Standard of Care Testing to Investigate Genomic Abnormalities in Leukaemias: The Experience of the Central and South Genomic Laboratory Hub, Uk

Abstract

Background:Background: Here we present the Central and South Genomic Laboratory Hub experience of verifying Optical Genome Mapping (OGM). OGM a has great potential to become the new gold standard for detecting structural and copy number variations (SVs and CNVs) identified by cytogenetic techniques for routine use in a diagnostic laboratory environment. A range of haematological referrals were analysed by OGM and results were compared with standard of care testing consisting of G-band metaphase analysis, Fluorescence in Situ Hybridisation (FISH) and SNP array analysis. The use of OGM in various research and diagnostic labs is being validated and implemented around the world.Aims: Aims: Our objective was to compare the workflows in terms of processing and analysis times and concordance of results. Methods:Methods: This next generation cytogenomic technique consists of isolating ultra-high molecular weight DNA, genome wide labelling and imaging of the molecules using the Bionano Saphyr system. This allows the acquisition of big amount of data in parallel followed by analysis using the Bionano Access software. Bionano Genomics Rare Variant Pipeline (RVP) was used for somatic variant detection. Results:Results: We show the concordance between standard of care tests and OGM in the analysed cohort and also present details of additional aberrations detected by OGM, due to its superior resolution and sensitivity compared to G-band analysis.