Translocation and partial tandem duplication detection with updates to SureSeq NGS portfolio

Oxford Gene Technology (OGT), a Sysmex Group company, has announced the addition of accurate detection capabilities for translocations and difficult-to-sequence partial tandem duplications (PTDs) in its popular myPanel customisable SureSeq NGS panels. This latest update is, for example, beneficial to researchers investigating myeloid disorders like chronic myeloid leukaemia (CML), myeloproliferative neoplasms (MPNs) and acute myeloid leukaemia (AML), now enabled with BCR-ABL fusion gene and KMT2A-PTD detection.

Oxford Gene Technology already offers researchers the rapid and reliable detection of a complete set of genetic aberrations, including single nucleotide variations (SNVs), insertions/ deletions (indels), internal tandem duplications (ITD), copy number variations (CNVs), and loss of heterozygosity (LOH), even at low-frequencies.

Until now, a lack of sensitive and reliable next-generation sequencing (NGS) solutions has meant that researchers often needed to employ multiple methods to characterise structural aberrations in their samples. To address this, OGT recently added somatic CNV detection to its NGS portfolio, with the launch of the SureSeq CLL + CNV Panel. Responding to the latest research findings, OGT has leveraged its long heritage and expertise in hybridisation, design capability and bioinformatics to enable PTD and translocation detection in a single, reliable assay.

The expanded content enables OGT SureSeq myPanel panels to be customised to include the BCR-ABL gene fusion, resulting from a translocation of chromosomes 9 and 22 generating the Philadelphia chromosome — the hallmark of CML. Importantly, in addition to detecting this translocation, OGT’s easy-to-use Interpret software can detect translocation events anywhere in the genome. Thanks to OGT’s bioinformatics expertise, the software is able to agnostically screen for split-reads, reporting translocation partners in any genomic location.

In addition, building on OGT’s coverage uniformity of other difficult-to-sequence genes such as CEBPA, and genes with challenging ITDs – for example, FLT3 – PTDs in AML can now also be detected, including those in the KMT2A (MLL) gene. Researchers can choose to customise content and include KMT2A-PTD detection to make their SureSeq panels more all-encompassing.