Congenica Neuro

Understanding why a neurodevelopmental disorder (NDD) has occurred in an individual presents a challenge even for the most experienced clinician. While there is a strong genetic link, the vast majority of cases present as rare with over 1,500 genetic loci identified to date. Genomic heterogeneity complicates interpretation, with de novo variants responsible for up to two thirds of genetic diagnoses in children with NDDs. De novo variants have also been described as a significant cause of early onset epileptic encephalopathies.

We have developed Congenica Neuro, a pre-configured and expertly curated analysis module within the Congenica Platform, that facilitates simplified and accurate identification, review and reporting of de novo variants associated with neurodevelopmental disorders and disorders characterised by isolated or syndromic early onset epilepsy.