Getting upstream to the source of hereditary nephropathies
Early and precise diagnoses are essential to allow effective treatment of patients and delay disease progression. This solution presents a highly comprehensive panel and reaches clinical-grade performance for the diagnostic of the most prevalent hereditary nephrology diseases, such as polycystic kidney disease.
SOPHiA Nephropathies Solution is a genomic application that bundles a smart capture-based target enrichment kit with the analytical power of SOPHiA™ AI and full access to SOPHiA DDM® platform.
The application was expertly designed to target 44 genes associated with the most prevalent hereditary nephrology diseases and accurately characterize multiple variants (SNVs, Indels and CNVs) in one unique experiment. In addition, variants are pre-classified by level of pathogenicity according to both ACMG guidelines and SOPHiA’s predictions, facilitating interpretation.
Benefits of the solution
Detection of SNVs, Indels and CNVs in 44 relevant genes associated with hereditary nephrology diseases
Advanced analytical performance
Gene panel can be customized following customers’ needs
The library preparation step can be fully automated, for high throughput needs, without impacting data quality