Faster analysis of epilepsy and neurodevelopmental disorders
For healthcare professionals diagnosing epilepsy and neurodevelopmental disorders (NDD), Congenica Neuro is a pre-configured application with expertly curated gene panels to provide rapid streamlined analysis and interpretation of genomic data, enabling actionable clinical decisions faster than ever before.
Analyze Cases Faster
Expert gene curation for specific disease types enabling >20X faster analysis and interpretation
Diagnose More Patients
NDD de novo variant detection improves diagnostic yield and maximizes your chance of finding pathogenic variants
Report Results Instantly
Standardized reports provide instantly available results and facilitate clinically actionable outcomes
Overcoming the diagnostic challenge
Understanding why a neurodevelopmental disorder has occurred in an individual presents a diagnostic challenge for even for the most experienced physician.
The underlying molecular cause
~40% of children with NDDs who have previously undergone routine genetic analysis 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.
Extensive genetic heterogeneity
De novo variants are responsible for up to 2/3 of molecular diagnoses made in children with NDDs and have been described as a significant cause of early onset epileptic encephalopathies.
Make clinical decisions faster
Where once genomic analysis of these complex patient cases was the domain of specialists, the streamlined and simplified workflow in Congenica Neuro provides all customers with accurate and reliable variant identification, review and reporting of de novo variants from a set of expert-curated genes associated with neurodevelopmental disorders and disorders characterized by isolated or syndromic early onset epilepsy.
In the evolving new era of genomic medicine, Congenica Neuro is an exciting and powerful tool to facilitate the rapid molecular diagnosis of young children with a variety of important neurodevelopment disorders
Request a demo to see how Congenica Neuro can increase your diagnostic yield, confidence and efficiency.