SOPHiA DDM™ Extended Myeloid Solution (ExtMYS)

SOPHiA DDM™ Extended Myeloid Solution (ExtMYS) covers 98 relevant genes (complete coding sequences) associated with acute myeloid leukemia (AML), myeloid dysplastic syndrome (MDS), myeloproliferative neoplasms (MPN), chronic myelomonocytic leukemia (CMML), and related myeloid malignancies. Probe design is optimized to guarantee high on-target rate and coverage uniformity even in GC-rich regions.

Capture-based application targeting 98 full genes associated with leukemia, MDS, MPNs, and related disorders. Designed for high-throughput labs seeking broad genomic coverage. Compatible with SOPHiA DDM™ Blood Cancers Plus for RNA-based detection of 118 known fusion pairs.

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™ Extended Myeloid Solution (ExtMYS)

Ordering Information

For Research Use Only. Not for use in diagnostic procedures.