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Comprehensive NGS-based detection of measurable residual disease in myeloid malignancies
The Oncomine Myeloid MRD Assays (RUO) provide a highly sensitive next-generation sequencing (NGS) workflow for measurable residual disease (MRD) research in myeloid malignancies, including acute myeloid leukemia (AML), myelodysplastic syndromes (MDS), and myeloproliferative neoplasms (MPN). The assays are designed to detect low-frequency genomic alterations from blood and bone marrow samples using a streamlined DNA and RNA sequencing workflow on the Ion GeneStudio S5 System.
Built on Ion AmpliSeq HD technology with unique molecular identifiers, the assays enable highly *sensitive variant detection down to 0.05% allele frequency for key somatic mutations associated with myeloid disease.
On-demand webinar: Genomic profiling from initial assessment to detection of measurable residual disease (MRD): how NGS can rapidly deliver key insights for myeloid neoplasms.
Dr. Bevan Tandon will review ongoing research in his laboratory using the Oncomine Myeloid Assay GX, an NGS-based test capable of delivering results in just 1-2 days. He will also share his experience with the upcoming Oncomine Myeloid MRD Assay (RUO), a highly sensitive NGS test for measurable residual disease (MRD) assessment that can identify mutations occurring at very low frequencies. Dr. Tandon will share recent analytical data from his team and offer his perspective on the value of NGS in hematopathology studies.
Key features and benefits
High-sensitivity MRD detection
Ion AmpliSeq HD chemistry with unique molecular identifiers (UMIs) suppresses sequencing artifacts and helps improve analytical sensitivity for low-frequency variant detection.
Sensitivity specifications
- Detection sensitivity down to 0.05% allele frequency
- Chimerism analysis sensitivity down to 0.2% allele frequency
- Detection of low-abundance variants in blood and bone marrow research samples
Comprehensive genomic coverage
A separate DNA and an RNA assay include key targets for myeloid MRD analysis, allowing simultaneous profiling of single nucleotide variants (SNVs), insertions and deletions (indels), tandem duplications, and key gene fusions.
These carefully curated targets are relevant for the major categories of myeloid neoplasms, including acute myeloid leukemia (AML), myelodysplastic syndromes (MDS), and myeloproliferative neoplasms (MPN) samples. Customization is available if the assay content does not meet your lab's specific needs.
DNA panel
- 33 genes, including 2 full genes and FLT3-ITDs
- Optional 22-amplicon micro-haplotype panel for
chimerism analysis
| DNA Assay - Gene Targets | |||
| ABL1 | FLT3 | NRAS | TP53 |
| ASXL1 | GATA2 | PHF6 | U2AF1 |
| BCOR | IDH1 | PTPN11 | WT1 |
| BRAF | IDH2 | RUNX1 | |
| CALR | JAK2 | SETBP1 | |
| CBL | KIT | SF3B1 | |
| CEBPA* | KRAS | SH2B3 | |
| CSF3R | MPL | SRSF2 | |
| DNMT3A | MYD88 | STAG2 | |
| EZH2 | NPM1 | TET2 | |
RNA panel
- 42 fusion driver genes
- 990 unique fusions
- 6 genes with exon splicing variants
- 5 expression control genes
| RNA assay - fusion driver genes | Expression controls | Exon splicing variants | |||
| ABL1 | FUS | MYBL1 | RARA | ABL1 | KMT2A |
| ABL2 | GLIS2 | MYH11 | RARB | GUSB | RUNX1 |
| ALK | HMGA2 | NOTCH1 | RARG | PSMB2 | NOTCH1 |
| BCL2 | JAK2 | NTRK1 | RET | PUM1 | ETV6 |
| BRAF | KAT6A (MOZ) | NTRK2 | RUNX1 | TRIM27 | IKZF1 |
| CCND1 | KAT6B | NTRK3 | TAL1 | NTRK1 | |
| CREBBP | KMT2A (includes PTD)* | NUP214 | TCF3 | ||
| CSF1R | MECOM | NUP98 | TCF4 | ||
| EGFR | MLLT10 | PAX5 | TFE3 | ||
| ETV6 | MRTFA (MLK1) | PDGFRA | ZNF384 | ||
| FGFR1 | PDGFRB | ||||
Streamlined NGS workflow
The Oncomine Myeloid MRD Assays (RUO) include a fully integrated workflow based on the Ion GeneStudio S5 System. The entire process, from sample-to-report, can be completed in 2–3 days with roughly 2 hours of hands-on time.
| Step | Process | Details / Materials / Instruments |
| 1 | Sample preparation | Input materials: |
| • Whole blood | ||
| • Bone marrow | ||
| 2 | Library preparation | Library construction using: |
| • Ion AmpliSeq HD Library Kit | ||
| • Ion AmpliSeq HD Dual Barcode Kits | ||
| 3 | Automated template preparation | Automated templating performed on the Ion Chef Instrument |
| 4 | Sequencing | Sequencing performed on: |
| • Ion GeneStudio S5 Prime System | ||
| 5 | Data analysis and reporting | Integrated software ecosystem includes: |
| • Torrent Suite Software | ||
| • Ion Reporter Software |
Integrated bioinformatics
The solution includes an integrated analysis pipeline that allows labs to easily analyze samples without needing deep informatics expertise typically required for other assays.
Easily visualize allele frequencies for target genes over a time series using Ion Reporter analysis tools.
Bioinformatics capabilities
- Variant annotation and filtering
- FLT3-ITD workflow support
- Chimerism analysis
- Standardized reporting outputs
Custom Ion AmpliSeq solutions for MRD research
For laboratories and translational research programs requiring tailored MRD assays, Thermo Fisher Scientific also offers custom Ion AmpliSeq HD panel design capabilities. These customizable targeted NGS solutions enable researchers to build highly sensitive MRD assays focused on institution-specific biomarkers, disease cohorts, or emerging genomic targets.
Contact an NGS sales specialist to learn more about Ion AmpliSeq panels for clinical research.
Oncomine Myeloid MRD (RUO) Assays frequently asked questions
Measurable residual disease refers to the small number of cancer cells that remain after treatment and may contribute to disease recurrence. MRD assessment uses highly sensitive molecular methods to detect low levels of residual disease that may not be visible through conventional testing methods making MRD a key aread of research.
The assay detects:
- Single nucleotide variants (SNVs)
- Insertions and deletions (indels)
- FLT3 internal tandem duplications (FLT3-ITDs)
- Gene fusions
- RNA splice variants
The assays are validated for:
- Peripheral blood
- Bone marrow
No. The assay is for Research Use Only and not intended for use in diagnostic procedures.
Ordering information
Ready to speak to a Thermo Fisher Scientific representative?
We will be happy to answer your questions and provide a demo of our NGS solutions.
For Research Use Only. Not for use in diagnostic procedures.
*Internal data on file
PMR-006128