Characterization of Plasma Cell Dyscrasias (PCD) by Optical Genome Mapping

In the following study, plasma cell dyscrasias were examined using OGM. FISH and aCGH were used as a comparison. The study was intended to clarify how reliable OGM is compared to conventional systems with regard to clinical diagnostics. A total of 24 samples were analyzed, 6 of them had to be excluded due to failed quality controls and polyploidy. With the remaining samples, a total of 62 relevant aberrations were found with FISH and aCGH. With Optical Genome Mapping, samples were first analyzed with Solve and Bionano Access 1.6, 60 of these aberrations were detected. Later with version 1.7 all aberrations could be detected.