SOPHiA DDM™ for Blood Cancers

Navigating complexity of blood cancer genomic analysis
Boost your blood cancer assessment with sensitive, accurate variant detection and clear interpretation, trusted by a network of leading hemato-oncology experts.
OVERVIEW

Blood cancers are genomically diverse

The high prevalence of blood cancers globally1 has resulted in an increasing recognition of the diversity among hematological malignancies. Specialists are now encouraged to classify disease by genomic mutations2, which can add complexity, delays and cost to testing and result interpretation.

Easily navigate complex analysis

SOPHiA DDM™ for Blood Cancers simplifies analysis of genomic drivers in hematological cancers using the trusted analytical performance and advanced features of the SOPHiA DDM™ Platform.
Streamline raw genomic data analysis to accurately detect, annotate, and prioritize even the most complex blood cancer variants including SNVs, Indels, CNVs, ITDs, and gene fusions.

Powerful blood cancer biomarker analysis

Myeloid Malignancies

Target challenging genomic variants associated with myeloid malignancies with targeted IVD and RUO next-generation sequencing (NGS)-based applications.

Lymphoid Malignancies

Assess key biomarkers linked to lymphoid malignancies, as Lymphomas and Chronic Lymphocytic Leukemia, using tailored next-generation sequencing (NGS) workflows.

Measurable Residual Disease (MRD)

See beyond complete response with measurable residual disease (MRD) detection by combining the power of next-generation sequencing (NGS) and the analytical capabilities of the SOPHiA DDM™ Platform.

Easily navigate complex analysis

SOPHiA DDM™ for Blood Cancers simplifies analysis of genomic drivers in hematological cancers using the trusted analytical performance and advanced features of the SOPHiA DDM™ platform.
Streamline raw genomic data analysis to precisely detect, annotate, and prioritize even the most complex blood cancer variants.
KEY FEATURES

From droplets of data to waves of answers

Gain clear, actionable insights through streamlined, end-to-end workflows. Accurately characterize key genomic variants driving myeloid and lymphoid malignancies using our comprehensive, guideline-driven portfolio of ready-to-use and customizable NGS-based applications.
Propel genomic discovery using analytically verified applications that harness proprietary algorithms, trusted by a network of leading hemato-oncology experts.
Confidently generate data internally, knowing your results will align with those from other labs operating under the same conditions, all while securely maintaining full control over your samples and data.
Automate your high-throughput analyses to assess the most relevant blood cancer biomarkers in your laboratory.
WORKFLOW

A wave of insights for every laboratory

Streamline your blood cancer analysis workflow from sample to comprehensive, customized report.
Flexible and scalable library preparation

Use one universal, automated protocol for robust sequencing across applications.

Accurate variant detection and annotation

Analyze SNVs, Indels, CNVs, ITDs, PTDs, and gene fusions, with confidence.

Advanced variant interpretation

Match blood cancer genomic profiles to the most up-to date information with OncoPortal™ Knowledge Base.

Customizable reporting

Quickly prepare comprehensive reports adapted to your needs.

You won’t be left alone.
Enjoy comprehensive support at every step through the SOPHiA DDM™ MaxCare Program, making in-house adoption a breeze.
ANALYTICS

Guiding you through the rapids of data analysis

Detect even the most challenging blood cancer variants with the proprietary algorithms of the SOPHiA DDM™ Platform.
SOPHiA DDM™ enables sensitive detection of clinically relevant variants at low allele frequencies (< 0.01% VAF) for MRD. By incorporating our proprietary CUMIN™ unique molecular identifier (UMI) technology into sample preparation and leveraging our bioinformatic expertise, errors introduced during library preparation, target enrichment, or sequencing can be filtered out and true variant alleles identified.
Technology Principles
Our sophisticated SNV and Indel calling algorithm implements relevant analytical modules that are tailored to reduce noise linked to sample type, sequencer, and library preparation. The algorithm allows, for instance, the detection of tandem duplications of varying lengths (up to 300bp) in the FLT3 gene, as well as small variants in challenging genes such as CEBPA and CALR.
Technology Principles
Our copy number variation (CNV) calling algorithm adapts to experimental conditions and performs double normalization to call CNVs missed by other tools. For example, MUSKAT™ successfully detects CNVs even in challenging conditions, such as those associated with 13q14 deletions. Our sub-gene level resolution enables detection of difficult rearrangements such as partial tandem duplications in the KMT2A gene.
Technology Principles
Our fusion calling technology accurately detects fusion events from DNA in a partner-agnostic way, enabling comprehensive detection of fusion genes relevant to myeloid malignancies.
Technology Principles
Our robust annotation algorithm retrieves information from curated databases and uses de novo analytics to provide insights on the likely effects and pathogenicity of genomic variants. Coupled with SOPHiA DDM™ filtering capabilities, our accurate variant annotation facilitates the identification of relevant variants.
Technology Principles

SOPHiA DDM™ for Blood Cancers

Master the challenge of blood cancer analysis.
APPLICATIONS

A portfolio of Blood Cancer solutions

At SOPHiA GENETICS, we offer a complete portfolio of NGS-based applications (from sample to report) to fulfill your needs and better assess key biomarkers involved in myeloid and lymphoid neoplasms, and essential for detection and quantification of measurable residual disease (MRD).

Community Solutions for Blood Cancers

Accelerate your analysis with expertly-designed NGS-based applications.

References

  1. Sung H, Ferlay J, Siegel RL, Laversanne M, Soerjomataram I, Jemal A, et al. Global cancer statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2021;71(3):209–49. http://dx.doi.org/10.3322/caac.21660
  2. 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. http://dx.doi.org/10.1038/s41375-022-01613-1

SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise.

SOPHiA DDM™ Dx Hereditary Cancer Solution, SOPHiA DDM™ Dx RNAtarget Oncology Solution and SOPHiA DDM™ Dx Homologous Recombination Deficiency Solution are available as CE-IVD products for In Vitro Diagnostic Use in the European Economic Area (EEA), the United Kingdom and Switzerland. SOPHiA DDM™ Dx Myeloid Solution and SOPHiA DDM™ Dx Solid Tumor Solution are available as CE-IVD products for In Vitro Diagnostic Use in the EEA, the United Kingdom, Switzerland, and Israel. Information about products that may or may not be available in different countries and if applicable, may or may not have received approval or market clearance by a governmental regulatory body for different indications for use. Please contact us at [email protected] to obtain the appropriate product information for your country of residence.

All third-party trademarks listed by SOPHiA GENETICS remain the property of their respective owners. Unless specifically identified as such, SOPHiA GENETICS’ use of third-party trademarks does not indicate any relationship, sponsorship, or endorsement between SOPHiA GENETICS and the owners of these trademarks. Any references by SOPHiA GENETICS to third-party trademarks is to identify the corresponding third-party goods and/or services and shall be considered nominative fair use under the trademark law.

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