SOPHiA DDM™ Myeloid Plus Solution

Expand the scope of myeloid neoplasms management

SOPHiA DDM™ Myeloid Plus Solution is a ready-to-use genomic application that enables accurate characterization of DNA and RNA-based fusions associated with different blood cancers.

This comprehensive solution accurately covers 30 genes already covered in the SOPHiA DDM™ Myeloid Solution and 119 RNA-based fusions associated with myelodysplastic syndromes, myeloproliferative neoplasms, and leukemia. The application combines a capture-based target enrichment kit with the advanced analytical capabilities of the SOPHiA DDM™ platform, providing high-quality and reproducible data through a streamlined workflow from sample to report.​

Ready-to-use target enriched libraries in just 1.5 days for DNA and 6 hours for RNA

Data analysis from FASTQ files from 4 hours

Accurate detection and annotation of challenging variants, such as SNVs, Indels, CNVs, fusions, FLT3 internal tandem duplications

Streamline interpretation with the SOPHiA DDM™ intuitive variant filters, algorithm-supported variant classification with OncoPortal™ to obtain the latest scientific evidence on all the relevant variants​

Have access to one of the largest networks of connected healthcare institutions within SOPHiA DDM™, to gain and share knowledge on relevant variants​

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Product Details

Confidently asses complete blood cancer variants in DNA and RNA-based fusions

Molecular profiling by next-generation sequencing has introduced a paradigm shift in investigating the pathogenic variants causing different blood cancer disorders. Through a streamlined, customizable, and scalable NGS-based workflow, SOPHiA DDM™ Myeloid Plus Solution reduces turnaround time and improves the efficiency of assessing complex variants associated with different blood cancers. In addition to  the standard uniform coverage of DNA alterations (e.g., CALR, CEBPA, ASXL1, FLT3, including internal tandem duplications) which are offered in our SOPHiA Myeloid Solution, our Myeloid Plus Solution includes 119 RNA-based fusions to get you access to even more insights. 

SOPHiA Myeloid Plus Solution Screenshot
SOPHiA Myeloid Plus Solution Shower

Dedicated features to ease variant interpretation

The SOPHiA DDM™ platform features intuitive variant filters and prioritization options to streamline the interpretation process and greatly reduce turnaround time.

  • Virtual Panels to limit the interpretation to a subset of genes
  • Cascading Filters to enable user-created custom filtering strategies for quicker identification of relevant variants
  • OncoPortal™ to support decisions based on the Jax-CKB™, CAP, ASCO, AMP and other data sources
SOPHiA Myeloid Plus Solution Workflow
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“Designing an NGS solution for myeloid neoplasms can be challenging, given the evolving scientific literature as well as the significant resources that are required for test development, bioinformatic analyses, etc. SOPHiA GENETICS has demonstrated the ability to obtain excellent coverage of challenging gene regions such as CEBPA, robust variant calling for challenging variants such as large FLT3 internal tandem duplications, and an efficient approach for detecting clinically relevant gene fusions which can be cytogenetically cryptic. In addition, their willingness to partner with laboratories has enabled us to minimize lab resources while developing a cutting-edge myeloid NGS panel with custom content and in-house interpretation.”

Noah Brown, MD
Associate Professor of Pathology, Director, Molecular Diagnostic Laboratory

 

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Specifications

Parameters SOPHiA DDM™ Myeloid Plus Solution
Diseases Covered Myelodysplastic syndromes, myeloproliferative neoplasms, and leukemia
Genes 30 genes (10 with complete coding sequences.) Panel:
ABL1, ASXL1, BRAF, CALR, CBL, CEBPA, CSF3R, DNMT3A, ETV6, EZH2, FLT3, HRAS, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NPM1, NRAS, PTPN11, RUNX1, SETBP1, SF3B1, SRSF2, TET2, TP53, U2AF1, WT1, ZRSR2
RNA fusions covering 119 key genes associated with leukemia. Download fact sheet
Key Biomarkers CEBPA, CALR, FLT3 including internal tandem duplications
Target Region Size 49 Kb
Sample Type Blood and bone marrow
Input Amount 200 ng DNA
500 ng RNA
Sequencer Compatibility
  • Illumina MiSeq® kit v2 (2x250bp)
  • Illumina NextSeq® 500/500 High Output kit v2 (2x150bp)
  • Illumina NextSeq® 500/500 Mid Output kit v2 (2x150bp)
  • Ion Proton™ System Ion 540™ kit
Library Preparation Time 1.5 days for DNA
6 hours for RNA
Analysis Time From FASTQ From 4 hours
Detected Variants
  • SNVs
  • Indels
  • CNVs
  • FLT3 internal tandem duplications
  • Fusions
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