Diagnostic software Congenica Neuro™

hospitalclinicalfor neurodevelopmental disorders

For clinicians and researchers working on epilepsy and neurodevelopmental disorders (NDD), Congenica Neuro is a pre-configured module within our Clinical Decision Support platform, which includes expert curated gene panels to provide rapid streamlined analysis and interpretation of genomic data, enabling actionable decisions faster than ever. Overcoming the diagnostic challenge Understanding why a neurodevelopmental disorder has occurred in an individual presents a diagnostic challenge for even for the most experienced clinician. Congenica Neuro helps analyze cases faster, with greater accuracy and confidence to improve outcomes. Identify underlying molecular cause ~40% of children with NDDs who have previously undergone routine genetic analysis using whole exome sequence are found to have a molecular cause. The vast majority of which are rare or ultra-rare diseases attributed to over 1,500 genetic loci. Expert gene curation for specific disease types in Congenica Neuro enables >20X faster analysis and interpretation. Simplify extensive genetic variation Genomic heterogeneity complicates interpretation, with de novo variants responsible for up to 2/3 of molecular diagnoses made in children with NDDs. De novo variants have also been described as a significant cause of early onset epileptic encephalopathies. The de novo variant detection feature in Congenica Neuro improves analytical yield and maximizes your chance of finding pathogenic variants.