Myeloproliferative neoplasms (MPNs) are a heterogeneous group of diseases characterized by the overproduction of one or more types of blood cells. The SureSeq™ Core MPN Panel has been designed in collaboration with recognized cancer experts to detect somatic variants in 3 clinically relevant MPN-associated genes; JAK2, MPL and CALR (Table 1). The SureSeq Core MPN Panel provides researchers with a single, 1-day NGS workflow for studies into the diagnosis, aetiology and prognosis of MPNs.
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The SureSeq Core MPN Panel in numbers
Table 1: The SureSeq Core MPN Panel targets 4 exons in 3 genes implicated in MPNs, covering various key MPN driver mutations.
* Exon examples not yet available
The hybridization-based SureSeq Core MPN Panel is able to consistently detect SNVs and indels down to 1% minor allele frequency (MAF), using a streamlined 1-day workflow. Facilitated by OGT’s expert bait design, the panel delivers the turn-around time of an amplicon-based protocol with the superior coverage uniformity of a hybridization-based panel, enabling confident detection of key MPN variants including a 52 bp deletion in CALR exon 9 and a 6 bp deletion in JAK2 exon 12 (Figures 1 and 2).
Figure 1: Detection of a 52 bp deletion (type 1) in exon 9 of CALR (bottom panel), compared to a wild-type sample (top panel).
Figure 2: Detection of a 6 bp deletion in exon 12 of JAK2 (bottom panel), compared to a wild-type sample (top panel).
The BCR-ABL gene fusion is formed following a balanced translocation of chromosome 9 and 22, generating the Philadelphia chromosome. Most MPNs are negative for BCR-ABL, however this translocation is a hallmark of chronic myeloid leukaemia (CML) (Figure 3).
With SureSeq myPanel™, our regularly updated, expert-curated library of pre-optimized cancer content, you can customize your SureSeq Core MPN Panel and add BCR-ABL fusion gene detection, as well as other myeloid content, to create your ideal custom SureSeq myPanel MPN Panel. Combine SNV and indel detection with translocation content and replace multiple assays with a single streamlined NGS workflow for a more comprehensive picture of all your MPN samples.
Figure 3: BCR-ABL translocation reported in Interpret. Split-reads covering both BCR (left panel) and ABL1 (right panel) are detected, indicative of the BCR-ABL gene fusion.
Interpret is OGT’s powerful and easy-to-use data analysis solution, facilitating analysis and visualization of a wide range of somatic variants and structural aberrations. Designed to work seamlessly with all SureSeq panels, Interpret perfectly complements the SureSeq Core MPN Panel, delivering fast and accurate detection of SNVs and indels, as well as BCR-ABL and other translocation events for customized panels. Following detection, all variants can be readily visualized in the user-friendly variant browser, for an effortless translation of all your MPN data into meaningful results.
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