NeuroMeGen is a diagnostic tool created by the Unit for Diagnosis and Treatment of Inborn Metabolic Diseases of the Clinical Hospital of Santiago de Compostela, a reference center for the Galician community for over 35 years and, since 2014, one of the 7 state reference centers for diagnosis and treatment of congenital metabolic diseases.
This (NeuroMeGen) tool analyzes simultaneously groups of genes associated with overlapping clinical and biochemical scenarios included in the same differential diagnosis, with a response time of 1-2 months and similar to the conventional analysis of a single gene cost.
The panels of genes implemented in this tool are updated each quarter as new genes associated with phenotypes includible in some of the developed panels appear.
NeuroMeGen is a tool that combines the technological revolution that provides current and future throughput sequencing technology and bioinformatics tools for comparison based primarily on optimizing them patterns to achieve more rigorous screening variants minimizing the false negative rate and increasing the likelihood find the variant or variants underlying every clinical phenotype study.
NeuroMeGen can speed up diagnosis, treatment, prognosis of patients with neurometabolic disorders significantly reducing the social and health costs of these diseases in the NHS.
To create this tool we have had grants from ISCIII PI10 / 01193 (2011-2013) and PI13 / 02177 (2013-2015) and Juan Rodés contract also provided by the ISCIII.