SOPHiA DDM™ Dx Homologous Recombination Deficiency Solution (CE-IVD)

SOPHiA DDM™ Dx HRD Solution is an in vitro diagnostic medical device that can be used as an aid to determine the HRD status of tumors in patients with ovarian cancer by the semi-quantitative detection of the Genomic Instability biomarker. The device is intended to be used by healthcare professionals and is based on a next-generation sequencing (NGS) workflow taking genomic DNA extracted from FFPE treated tumor material as input.

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

Expand identification of HRD+ samples – Streamline your sample-to-report workflow with SOPHiA DDM™ for HRD. Leverage our flexible platform that offers a comprehensive range of guideline-driven and ready-to-use next generation sequencing (NGS)-based applications to enhance your HRD assessment capabilities.

Workflow

Every step leads to informed decisions – Empower your HRD expertise with a simple, adaptable 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 – Rely on robust sequencing across multiple applications using one universal and automated protocol.
• Accurate variant detection and annotation – Precisely detect challenging genomic variants thanks to the power of our proprietary algorithms.
• Customizable reporting – Quickly prepare comprehensive reports tailored to your needs.

Analytics

Give your HRD analysis a kick – Enhance your HRR mutation analysis and explore genomic instability with the advanced analytical capabilities and AI-driven algorithms of the SOPHiA DDM™ Platform.

• Universal genomic integrity assessment – Apply deep learning-based analysis to low-pass WGS data (~1x coverage) in a decentralized workflow. The GIInger™ algorithm is designed to complement different capture-based BRCA workflows for a complete HRD assessment, with no impact on previous validation. GIInger™ demonstrated high analytical concordance to centralized reference methods for HRD assessment in ovarian cancer (92.91% overall percent agreement).
• Sensitive SNV and Indel detection – Accurately identify single nucleotide variants (SNVs) and small insertions/deletions (Indels) in HRR genes associated with HRD. PEPPER™’s sophisticated algorithms differentiate true signal from noise, providing you with reliable results to guide your decisions.
• Reliable CNV analysis – Identify critical gene amplification/deletion and exon-level copy number variation (CNV) events associated with HRD status, including BRCA1/2 or PTEN deletions and CCNE1 amplification. Our CNV calling algorithm adapts to experimental conditions and performs double normalization to call CNVs missed by other tools.
• Robust variant annotation – Confidently interpret the clinical significance of genetic variants in HRD-associated cancers with MOKA™. Our annotation algorithm draws from curated databases and uses de novo predictions to assess the likely effects and pathogenicity of variants.
• Recognized by ESMO guidelines – Considering the potential benefit of poly (ADP-ribose) polymerase inhibitor (PARPi) therapy, ESMO recommends carrying out BRCA1/2 and HRD testing using a validated assay in patients with advanced ovarian cancer.

Documents

• Fact Sheet: SOPHiA DDM™ Dx HRD Solution (CE-IVD)
• Flyer: SOPHiA DDM™ Dx HRD 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.