Massive Update and Re-organization of our Diagnostic Panel for Epilepsy, Metabolic and Brain Development Disorders

In accordance with the latest scientific findings, CeGaT has extensively updated its panel diagnostics for Epilepsy, Metabolic and Brain Development Disorders, now combining all three areas of disease on one gene panel. Our large-panel approach, unique to CeGaT, enables us to sequence all relevant 639 genes, both in parallel and in high-resolution. The new diagnostic panel is sub-divided into 28 gene-sets according to their clinical importance for the single areas of disease. With every update to the panel, currently in its 7th revision, new relevant genes are included in the analysis, reflecting the current state of scientific understanding (lately 265 genes have been included). Constantly, we adjust our technical parameters in order to increase the sequence coverage within clinically relevant areas, with the result that 99,6 % of all 639 genes are very well covered and the mean coverage of the panel is at >750x per base. This enables us to detect rare mosaic variants with high sensitivity.

In case you have any questions on how to proceed with your diagnostic analysis, or if you want to inquire regarding costs for a specific test, contact us anytime.

Please visit our webpage Epilepsy, Metabolic and Brain Development Disorders to learn more about the new Diagnostic Panel.