Getting to the heart of inherited cardiac diseases

Molecular genetic testing is highly recommended for the diagnosis of inherited cardiac diseases to guide prognosis and treatment. CAS by SOPHiA GENETICS provides comprehensive coverage of the most relevant genes with known associations to hereditary heart diseases, such as arrhythmias and cardiomyopathies.

CAS is a molecular diagnostic application that bundles a capture-based target enrichment kit with the analytical power of SOPHiA™ AI and full access to SOPHiA DDM® platform. The solution enables accurate detection of SNVs, Indels and CNVs in all genes of the panel without any excluded regions. In addition, variants are pre-classified following ACMG guidelines in addition to SOPHiA’s prediction, thus facilitating clinical interpretation.

Benefits of the solution

Comprehensive

Detection of all type of variants in 31 relevant genes associated with arrhythmias and cardiomyopathies. An extended version is also available covering 131 genes (Extended Cardio Solution)

Accurate

Clinical-grade analytical performance

Flexible

Gene panel can be fully customized following customers’ needs

Automated

The library preparation step can be fully automated, for high throughput needs, without impacting data quality