SOPHiA DDM™ for Myeloid Malignancies

Science evolves, our solutions adapt

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As the list of biomarkers and disease-associated genes expands, so does the number of necessary molecular testing that a laboratory has to undertake.

Given the constant progress in targeted therapy and the expanding lists of international recommendations, it is nearly impossible to keep pace using traditional single-gene testing methods. Tailored NGS-based workflows empower specialists to get high-quality and reproducible data on up-to-date gene panels to accelerate their studies.

Expertly designed gene panels customizable to meet your laboratory’s specific needs

Detection of challenging variants including SNVs, Indels, CNVs, fusions, and tandem duplications in KMT2A and FLT3

Tailored probes to maximize on-target rate and coverage uniformity, for a cost-effective multiplexing

Ready-to-use target-enriched library in just 2 days

Data analysis from FASTQ files in as little as 4 hours

Streamlined workflow, from sample to report, to accelerate your analysis

Easy variant visualization, classification and annotation within the SOPHiA DDM™ Platform

Tertiary analysis based on the latest scientific evidence on relevant variants with OncoPortal™Plus​

Access to SOPHiA GENETICS Community, one of the largest networks of connected healthcare institutions, to gain and share scientific knowledge​

Accurately characterize myeloid malignancies

Myeloid neoplasms originate from hematopoietic disruptions in the myeloid lineage due to highly heterogeneous and complex mutations. Improvements in sequencing technics and the development of targeted therapies call for a refined classification according to genetic alterations1,2,3. Therefore, advances in cancer study depend on timely, cost-effective, and reliable high-throughput sequencing strategies.

Myelodysplastic syndromes (MDS)

Their classification still highly depends on the blast count. However, some genetic abnormalities determine subclasses of MDS such as 5q deletions, SF3B1 mutations, or TP53 biallelic inactivation1.

Myeloproliferative neoplasms (MPN)

They include, but are not restricted to, Chronic myeloid leukaemia (CML), Polycythaemia vera (PV) and Essential thrombocythaemia (ET) for which most patients exhibit mutations in JAK2, CALR, or MPL genes2. Other mutations in ASXL1 and EZH2 have been observed1.

Acute myeloid leukemia (AML)
AML diagnosis requires screening for mutations in ASXL1, BCOR, CEBPA, DDX41, E2AF1, EZH2, FLT3, IDH1, IDH2, NPM1, RUNX1, SF3B1, SRSF2, STAG2, TP53, ZRSR2, and specific rearrangements in KMT2A and others (PML::RARA, CBFB::MYH11, RUNX1::RUNX1T1, BCR::ABL1)3.
Chronic myeloid leukemia (CML)
Most cases arise from BCR::ABL1 fusion (resulting in the so-called Philadelphia chromosome) associated with tyrosine kinase overproduction4. Some SETBP1 and ETNK1 mutations have also been observed in atypical CML5 (an MDS/MPN disorder).

Confidently assess challenging biomarkers

Molecular profiling by NGS has introduced a paradigm shift in investigating the pathogenic variants causing different myeloid malignancies. Indeed, it allows the characterization of multiple SNVs, Indels, CNVs and fusions in one unique experiment. With an optimized probe design and the advanced analytical capabilities of the SOPHiA DDM™️ Platform, challenging variants in GC-rich regions such as ASXL1, CALR, CEBPA, and tandem duplications in KMT2D and FLT3 are covered.

Choose the solution that fits your needs

Our comprehensive portfolio offers a range of ready-to-use and customizable solutions that enable precise characterization of myeloid malignancies driver genes by targeting key variants from blood or bone marrow samples.

All Solutions

All our solutions accurately detect SNVs, Indels, CNVs, and FLT3 internal tandem duplications (ITDs) in genes associated with myelodysplastic syndromes, myeloproliferative neoplasms, and leukemia, with additional genes and features such as the RNAseq module to answer specific needs.

SOPHiA GENETICS™ Community Panels for Blood Cancers

SOPHiA GENETICS™ Community Panels for Blood Cancers were developed and tested by SOPHiA GENETICS’s peer-network of experts in hematological malignancies to minimize set-up challenges and accelerate your workflow.

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Learn directly from the experts of the field

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Myeloid Solution


Myeloid Plus Solution


Extended Myeloid Solution

Associated disorders Myelodysplastic syndromes, myeloproliferative neoplasms, and leukemia
Content 30 genes 30 genes
+ 119 RNA genes fusions
98 genes (full coding regions)
Target Region Size 48 kb 49 kb 325 kb
Sample Type Blood and bone marrow Blood and bone marrow Blood and bone marrow
Starting material 200 ng DNA 200 ng DNA
500 ng RNA
200 ng DNA
Sequencer Compatibility

Illumina MiSeq®, NextSeq® and

Thermo Fisher Scientific Ion Proton™️ System


Illumina MiSeq® and NextSeq® Illumina NextSeq® and NovaSeq™️
Library Preparation Time 1.5 days 1.5 days for DNA
6 hours for RNA
1.5 days
Analysis time from FASTQ* 4 hours 4 hours 6 hours
Detected Variants SNVs
Gene fusions

*Varies depending on the number of genes, samples multiplexed and server load.
Exons and fusions available on dedicated fact sheets.
ITDs, internal tandem duplications; PTDs, partial tandem duplications.

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Our client services team is on hand to help.


  1. Khoury JD, Solary E, Abla O, Akkari Y, Alaggio R, Apperley JF, et al. The 5th edition of the World Health Organization classification of Haematolymphoid Tumours: Myeloid and histiocytic/dendritic neoplasms. Leukemia. 2022;36(7):1703–19.
  2. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myeloproliferative neoplasms. Version 3.2022. [Updated: Aug 2022; Accessed: Jan 2023]
  3. Döhner H, Wei AH, Appelbaum FR, Craddock C, DiNardo CD, Dombret H, et al. Diagnosis and management of AML in adults: 2022 recommendations from an international expert panel on behalf of the ELN. Blood. 2022;140(12):1345–77.
  4. Smith G, Apperley J, Milojkovic D, Cross NCP, Foroni L, Byrne J, et al. A British Society for Haematology Guideline on the diagnosis and management of chronic myeloid leukaemia. Br J Haematol. 2020;191(2):171–93.
  5. Gambacorti-Passerini CB, Donadoni C, Parmiani A, Pirola A, Redaelli S, Signore G, et al. Recurrent ETNK1 mutations in atypical chronic myeloid leukemia. Blood. 2015;125(3):499–503.
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