Updates to SureSeq™ NGS Portfolio Include Translocation and Partial Tandem Duplication Detection
Product News Apr 07, 2020
Oxford Gene Technology (OGT) has announced the addition of accurate detection capabilities for translocations and difficult-to-sequence partial tandem duplications (PTDs) in its myPanel™ customizable SureSeq™ NGS panels. This latest update is, for example, beneficial to researchers investigating myeloid disorders like chronic myeloid leukemia (CML), myeloproliferative neoplasms (MPNs) and acute myeloid leukemia (AML), now enabled with BCR-ABL fusion gene and KMT2A-PTD detection.
OGT 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 NGS solutions has meant that researchers often needed to employ multiple methods to accurately characterize structural aberrations in their samples. To address this, OGT recently added somatic CNV detection to their NGS portfolio, with the launch of their SureSeq CLL + CNV Panel. Responding to latest research findings, OGT has leveraged its long heritage and expertise in hybridization, design capability and bioinformatics to enable PTD and translocation detection in a single, reliable assay.
The expanded content enables OGT SureSeq myPanel™ custom panels to be customized to include the BCR-ABL gene fusion, resulting from a translocation of chromosome 9 and 22 generating the Philadelphia chromosome — the hallmark of chronic myeloid leukemia (CML). Importantly, in addition to detecting this translocation, OGT’s complimentary and easy-to-use Interpret software can detect translocation events anywhere in the genome. 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 customize content and include KMT2A-PTD detection to make their SureSeq panels more all-encompassing.