SOPHiA DDM™ Extended Cardio Solution

Getting to the heart of inherited cardiac diseases

SOPHiA DDM™ Extended Cardio Solution (ExtCAS) enables assessment of 128 genes associated with a wide range of arrythmias and cardiomyopathies.

This application combines a pre-designed capture-based target enrichment kit with the advanced analytical capabilities of the SOPHiA DDM™ platform to overcome sequencing bias and maximize performance. As a result, SOPHiA DDM™ ExtCAS helps increase the efficiency of the research laboratory by offering an end-to-end approach (from sample to variant report) and high-quality data, leading to informed decision making.

Ready-to-use target enriched library in just 1.5 days
Optimized automation protocols to support high-throughput analyses

Customizable content with 128 genes to meet your specific research laboratory needs

Accurate detection and annotation of SNVs, Indels and CNVs in all genes of the panel through a single assay

Streamlined interpretation thanks to intuitive variant filter options, machine learning-based variant classification, and access to one of the largest networks of connected healthcare institutions to gain and share knowledge on relevant variants

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Product Details

Dedicated features to ease variant interpretation

The SOPHiA DDM™ platform features intuitive variant filters and prioritization options to streamline interpretation and help reduce turnaround time.

 

  • Dual Variant Pre-Classification to improve assessment of variants’ pathogenicity based on our machine learning-based predictions
  • Virtual Panels to restrict the interpretation to sub-panels of genes using the HPO or OMIM browser
  • Cascading Filters to apply custom filtering options for quicker screening of relevant variants and save strategies for future analyses
  • Familial Variant Analysis (trio analysis) to quickly identify causative variants by selecting different inheritance modes with a single mouse click

Through SOPHiA DDM™ Platform, you can also have access to Alamut™ Visual Plus, a full-genome browser that integrates numerous curated genomic and literature databases, guidelines, missense and slicing predictors, thus enabling a deeper variant exploration.

OMIM Shower
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Specifications

Parameters

SOPHiA DDM™ Extended Cardio Solution

Addressed Diseases Arrythmias and cardiomyopathies
Genes 128 genes with completed coding sequences
Target Region Size 470 kb
Sample Type Blood
DNA Input 200 ng
Sequencer Compatibility
  • Illumina: MiniSeq™
  • Illumina: MiSeq®
  • NextSeq® 500/550
  • Thermo Fisher Scientific: Ion S5™
Library Preparation Time 1.5 days
Analysis Time From FASTQ File 4 hours
Detected Variants
  • SNVs
  • Indels
  • CNVs
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