Challenging leukemia sample

Identification of complex rearrangements in cancer often requires a combination of approaches and are typically performed sequentially. This sequential approach manages costs but increases the turn-around time and complicates understanding the genetic makeup of the sample. A leukemia sample presented a challenging karyogram, necessitating aCGH as a complement to validate t(1;2). Suspicion of a previously missed t(5;14) called for a FISH analysis. Results from karyotyping and FISH were inconclusive since the acceptor chromosome couldn’t be clearly identified. The two events were captured by Bionano in a single experiment and benign structural variants were automatically filtered out without complex pipelines.1

1. Neveling K et al. bioRxiv 2020.02.06.935742