For healthcare professionals diagnosing epilepsy and neurodevelopmental disorders (NDD), Congenica Neuro is a pre-configured application 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 you to analyze cases faster, with greater accuracy and confidence to support the diagnosis of more patients and achieve clinically actionable outcomes.
Identify underlying molecular causes
~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 diagnostic yield and maximizes your chance of finding pathogenic variants.
Reduce time to diagnosis for neurodevelopmental disorders
By curating clinically-relevant genes, enabling the detection of multiple variant types, and annotating with relevant literature, everything you need to interpret genetic sequencing data is in one place.
Standardized Congenica Neuro reports provide instantly available results and clinically actionable outcomes, saving an additional 40-minutes in every case.
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
See how Congenica Neuro can increase your diagnostic yield, confidence and efficiency