Defining the genetic causes of nephropathies to improve patients’ care
Early and precise diagnoses are essential to allow effective treatment of patients and delay disease progression. NES by SOPHiA GENETICS 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.
NES 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 was expertly designed to accurately characterize all clinically relevant variants (SNVs, Indels and CNVs) in one unique experiment. In addition, variants are pre-classified following ACMG guidelines in addition to SOPHiA’s prediction, thus facilitating clinical interpretation.
Benefits of the solution
Detection of SNVs, Indels and CNVs in 44 relevant genes associated with hereditary nephrology diseases
Clinical-grade analytical performance
Gene panel can be fully customized following customers’ needs
The library preparation step can be fully automated, for high throughput needs, without impacting data quality