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One-day genomic profiling for myeloid samples

Myeloid malignancy research samples can be challenging to analyze. They are complex, heterogeneous, and can proliferate rapidly. To get meaningful genetic insights, you need a rapid and streamlined approach for profiling all key mutations.

Traditional single-gene approaches can be laborious and time-consuming, especially as the list of relevant genes continues to grow. Now there is a better solution. With the Ion Torrent Oncomine Myeloid Assay GX on the Ion Torrent Genexus System, you can get a comprehensive mutational profile from a single next-generation sequencing (NGS) run and results in just one day*.

A highly automated workflow lets you go from specimen to report with only ten minutes of hands-on time and two user touch points. It’s never been easier to implement NGS myeloid testing in your lab.

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Solution highlights

  • Rapid turnaround time—go from specimen to report in one day
  • Highly automated workflow—process samples with just 2 user touch points and 10 minutes of hands-on time
  • Comprehensive target coverage—simultaneously profile 40 key DNA targets and 29 RNA fusion driver genes, allowing you to detect >600 fusion isotypes
  • Coverage of key myeloid genes—profile samples for biomarkers associated with AML, MDS, MPN, CMML, JMML
  • Integrated reporting—get clear and concise variant reports that link biomarkers to relevant evidence

Comprehensive target coverage of myeloid biomarkers

With the Oncomine Myeloid Assay GX, you can simultaneously interrogate 40 DNA target genes and 29 RNA fusion driver genes (Table 1). The broad fusion panel allows you to detect >600 isotypes. The panel is applicable to all the major myeloid disorders, including AML, MDS, MPN, CML, CMML, and JMML. From a single assay, you can profile key targets like FLT3, TP53, CEBPA, NPM1, IDH1/2, and PML-RARA, along with many other important biomarkers that have been carefully curated using the latest available data.

Hotspot genes (23) Full genes (17) Fusion driver genes (29) Expression genes (5) Expression control genes (5)
ABL1 BRAF CBL CSF3R DNMT3A FLT3 GATA2 HRAS IDH1 IDH2 JAK2 KIT KRAS MPL MYD88 NPM1 NRAS PTPN11 SETBP1 SF3B1 SRSF2 U2AF1 WT1 ASXL1 BCOR CALR CEBPA ETV6 EZH2 IKZF1 NF1 PHF6 PRPF8 RB1 RUNX1 SH2B3 STAG2 TET2 TP53 ZRSR ABL1 ALK BCL2 BRAF CCND1 CREBBP EGFR ETV6 FGFR1 FGFR2 FUS HMGA2 JAK2 KMT2A   (MLL) MECOM MET MLLT10 MLLT3 MYBL1 MYH11 NTRK3 NUP214 PDGFRA PDGFRB RARA RBM15 RUNX1 TCF3 TFE3 BAALC MECOM MYC SMC1A WT1 EIF2B1 FBXW2 PSMB2 PUM1 TRIM27

Breakthrough automation, from specimen to report

Start with any common myeloid specimen type, including whole blood, bone marrow, or peripheral blood lymphocytes. From there, the Genexus System integrates and automates nucleic acid extraction, purification, quantitation, library preparation, sequencing, and analysis reporting within a single software ecosystem*.

The entire specimen-to-report workflow is highly automated, allowing your lab to get started with little training and gain efficiencies  that free up staff time to focus on other applications. The set-up-and-go workflow features prefilled reagents and preset instrument protocols that dramatically simplify setup and minimize the packaging footprint for your lab.

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The instrument reduces the need for batching so you can cost-effectively process samples as they come in—even just one. The Ion Torrent GX5 Chip is designed with four lanes to support variability in sample intake, so you can process 1–8 myeloid samples per run. The reagents are stable on the instrument for up to two weeks, giving you the flexibility to process additional samples as needed.

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Integrated reporting

Onboard, integrated analysis provides robust variant calling and reporting without the need for an external server. The simplified user experience helps minimize the learning curve and avoid human error. Oncomine Reporter delivers clear and concise reports that present relevant biomarkers annotated with evidence from public sources. The report is customizable so you can tailor it to fit the needs of your team. Oncomine Reporter also provides an application programming interface (API) that facilitates laboratory information management system (LIMS) integration as well as efficient workflow automation in high-volume labs.

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Ordering information

The assay kit includes three pools of Ion AmpliSeq oligonucleotide primers (a 2-pool DNA panel and 1-pool RNA panel) and Genexus Strips 1 & 2-AS library reagents, enough to sequence up to 32 samples on the Genexus Sequencer. One end-to-end sequencing run uses one lane on the GX5 Chip and accommodates up to eight samples.

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* Specimen-to-report workflow will be available after the Ion Torrent™ Genexus™ Purification System and integrated reporting capabilities are added in 2021.