SOPHiA DDM™ Dx Myeloid Solution (CE-IVD)

SOPHiA DDM™ Dx Myeloid Solution is a CE-IVD application intended to identify variants occurring in 30 genes involved in myeloid neoplasms by targeting specific mutation-prone positions within the genomic sequence, as an aid to healthcare professionals to make a clinical decision related to myeloid neoplasms.

CE-IVD certified application targeting key mutational hotspots across 30 genes associated with myeloid neoplasms. Optimized for routine clinical workflows to support data-driven therapeutic decisions. An ideal solution for labs seeking an accredited application focused on high-impact variants.

Sample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.

Specifications

Key Features

Raise your analytical capabilities – Streamline your sample to report workflow with SOPHiA DDM™ for Myeloid Malignancies, including a comprehensive range of guideline‑driven, ready‑to‑use, and customizable NGS‑based applications to accurately define genomic profiles associated with myeloid diseases.

Workflow

Navigate genomic profiling with ease – Accelerate your myeloid disease analysis with a simple, adaptable and accurate workflow.

Analytics

Accurate variant analysis – Leverage the advanced analytics capabilities of SOPHiA DDM™, powered by AI, to gain deep insights into myeloid malignancies. Our proprietary algorithms enable precise molecular characterization, driving informed data‑driven decisions.

• Sensitive SNV and Indel detection – Accurately identify single nucleotide variants (SNVs) and small insertions/deletions (Indels) associated with myeloid malignancies, even in challenging samples. PEPPER™ is a sophisticated algorithm that differentiates true signal from noise, providing you with reliable results to guide decision‑making. Notably, our algorithm enables detection of internal tandem duplications (ITDs) in FLT3 as long as 300 bp.
• Accurate CNV calling – Gain crucial insights into the genomic alterations driving myeloid malignancies with MUSKAT™. Our copy number variation (CNV) calling algorithm adapts to experimental conditions and employs double normalization to identify CNVs with a single‑exon resolution, which may be overlooked by other tools. Additionally, it facilitates the detection of partial tandem duplications in the KMT2A gene.
• Partner‑agnostic fusion detection – Assess fusion events from DNA for a large range of fusion partners reaching comprehensive detection of fusion genes relevant to myeloid malignancies. Our proprietary, junction-based algorithm CARDAMOM ensures reliable identification of prevalent fusions, BCR::ABL1; RUNX1::RUNX1T1; PML::RARA; CBFB::MYH11.
• Precise molecular barcoding – SOPHiA DDM™ enables sensitive detection of relevant variants at low allele frequencies (down to 5% VAF). By incorporating our proprietary CUMIN® molecular barcoding 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.
• Robust variant annotation – Confidently interpret the clinical significance of genomic variants in myeloid malignancies with MOKA™. Our robust annotation algorithm draws from curated databases and uses de novo predictions to assess the likely effects and pathogenicity of variants.
• Data‑driven decision support – Match cancer molecular profiles with the latest information to identify actionable biomarker profiles and confidently determine next steps in your research journey with our add‑on module, OncoPortal™ Knowledge Base.

Documents

• Fact Sheet: SOPHiA DDM™ Dx Myeloid Solution (CE-IVD)

Ordering Information

CE-IVD marked product for In Vitro Diagnostic use. Availability and regulatory status may differ by country - please contact us for the product information that applies to your laboratory.