Pb2477: Integration of Optical Genome Mapping in Daily Cytogenetics Laboratory Routine.

Abstract

The gold standard technique for cytogenetics diagnosis is chromosome banding analysis (CBA). However, there is a limitation of the standard cytogenetics procedures. CBA requires metaphases and the alteration needs a minimum size of 5 Mpb to be detected. Optical Genome Mapping (OGM) is a novel high-throughput diagnostic method that may overcome the drawbacks of standard cytogenetic approaches. OGM can detect structural variants (SVs), copy number variations (CNV), and balanced or unbalanced rearrangements from 500 base pairs in a single assay.