SOPHiA DDM™ Dx Myeloid Solution

From myeloid neoplasms genetic ethiology to care management

Accurate detection and reporting of biomarkers associated with blood cancers are critical for better patient management.

SOPHiA DDM™ Dx Myeloid Solution (MYS) is a CE-marked in vitro diagnostic (IVD) application based on next-generation sequencing (NGS) enabling accurate and sensitive characterization of the complex mutational landscape associated with myeloid neoplasms. Powered by the advanced analytical capabilities of SOPHiA DDM™ Platform, this sample-to-report application helps healthcare professionnals increase their efficiency and confidence of getting actionable clinical insights and making data-driven decisions that improve the quality of patient care.

Tailored analytics to accurately detect SNVs and Indels in 30 genes involved in blood cancers, including FLT3-ITDs

Reduced turnaround time with a ready-to-sequence target-enriched library in just 2 days

CE-IVD compliant SOPHiA DDM™ Platform web for intuitive reporting with unlimited and safe data storage

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Product Details

Accurateley detect actionable variants

SOPHiA DDM™ Dx MYS accuracy has been assessed through a multicenter performance evaluation study* showing:

• High on-target rates and coverage uniformity, even in GC-rich regions
• High-confidence calling of SNVs and Indels in 30 targeted genes
• Clinical-grade analytical performance that can facilitate confident decision-making.

*Performance values have been calculated based on 237 samples processed in 5 sequencing centers on Illumina MiSeq™.

Confidently generate comprehensive reports

SOPHiA DDM™ Dx MYS includes direct access to SOPHiA DDM™ Platform web, a front-end application to upload and analyze genomic sample data and generate downloadable CE-IVD reports. It offers unlimited and unrestricted storage, while keeping patient data safe by applying the highest industrial standards of encryption in compliance with local data security policies.

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Easily interpret clinically relevant variants

SOPHiA DDM™ Dx MYS also offers an additional component via SOPHiA DDM™ Platform core that allows users to visualize, interpret and report key biomarkers. Clinical Decision Support (CDS) results are computed by the bioinformatics pipeline in a single workflow. CDS reports include SNVs, Indels and CNVs for the 30 targeted genes and can be tuned via intuitive cascading filters and prioritization options based on ACMG scores, in-house machine learning predictions, virtual panels or custom filters.
Users also have access to SOPHiA GENETICS™ Community to share valuable knowledge with peers and OncoPortal™ Plus to help patient-treatment matching based on therapeutic, diagnostic and prognostic clinical associations.

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Specifications

Parameters SOPHiA DDM™ Dx Myeloid Solution
Diseases Covered Myelodysplastic syndromes, myeloproliferative neoplasms and leukemia
Genes 30 genes (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)
Key Biomarkers ASXL1, CALR, CEBPA, FLT3 including internal tandem duplications
Sample Type Blood
DNA Input Amount 200 ng
Sequencer Compatibility Illumina MiSeq™
Library Preparation Time 2 days
Analysis Time From FASTQ > 6 hours
Detected Variants
  • SNVs
  • Indels
  • FLT3-ITDs
  • CNVs (CDS only)
Product type Molecular diagnostic application (kit + analytics)
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