SOPHiA DDM™ Extended Myeloid Solution

Expand the scope of myeloid neoplasms management 

SOPHiA DDM™ Extended Myeloid Solution is a ready-to-use genomic application, designed to empower clinical researchers to make better informed decisions in the assessment of different blood cancers.

This comprehensive solution accurately covers 98 genes, including all the biomarkers present in SOPHiA DDM™ Myeloid Solution, associated with myelodysplastic syndromes (MDS), myeloproliferative neoplasms (MPS), MDS/MPS overlap syndromes, and acute myeloid 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 library in just 2 days

Data analysis from FASTQ files from 6 hours

Accurate detection and annotation of challenging variants, such as SNVs, Indels and CNVs in one unique experiment

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 complex blood cancer variants

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™ Extended Myeloid 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) aligned with recent guidelines.

SOPHiA Extended Myeloid Solution Screenshot
SOPHiA Extended Myeloid 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
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Specifications

Parameters SOPHiA DDM™ Extended Myeloid Solution
Diseases Covered Myelodysplastic syndromes (MDS), myeloproliferative neoplasms (MPN) overlap syndromes MDS/MPN, and acute myeloid leukemia (AML)
Genes ABL1, ANKRD26, ASXL1, ASXL2, ATM, ATRX, BCOR, BCORL1, BRAF, BRCC3, CALR, CBL, CBLB, CBLC, CCND2, CDKN2A, CEBPA, CHEK2, CREBBP, CSF3R, CSMD1, CSNK1A1, CTCF, CUX1, DDX41, DHX15, DNMT3A, ELANE, ETNK1, ETV6, EZH2Download Fact Sheet
Key Biomarkers CEBPA, ASXL1, CALR, FLT3 including internal tandem duplications
Target Region Size 325 Kb
Sample Type Blood and bone marrow
DNA Input Amount 200 ng DNA
Sequencer Compatibility
  • Illumina NextSeq® 500/500 High Output kit v2 (2x150bp)
  • Illumina NextSeq® 500/500 Mid Output kit v2 (2x150bp)
Library Preparation Time 2 days
Analysis Time From FASTQ From 6 hours
Detected Variants
  • SNVs
  • Indels
  • CNVs
  • FLT3 internal tandem duplications
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