Update and Extension of the Panel for Epilepsy and Brain Development Disorders

November 29, 2021

According to the latest clinical findings, we updated and expanded our Diagnostic Panel for Epilepsy and Brain Development Disorders. As part of the update, the composition and structural design of the panel have been revised to differentiate the clinical pictures covered and continue to increase their diagnostic sensitivity.

The following gene sets can now be requested separately:

  • Primary microcephaly and differential diagnoses (BRN-01).
  • Pontocerebellar hypoplasia (BRN-14)
  • Progressive myoclonus epilepsy (EPI-05)
  • Neuronal ceroid lipofuscinosis (EPI-06)

A lot of epilepsy and brain development disorders are caused by genetic defects. A precise diagnosis helps you identify disease associated risks and initiate appropriate preventive examinations. CeGaT’s Diagnostic Panel for Epilepsy and Brain Development Disorders includes 577 genes organized into 18 different gene sets. We interpret all genes associated with your patient’s phenotype. You can request any of our gene sets individually or in combination with other gene sets. To give you the highest diagnostic flexibility, you can also select an individual combination of genes.

The new Diagnostic Panel for Epilepsy and Brain Development Disorders is based on CeGaT ExomeXtra®, which we developed to generate the best sequencing data for genetic diagnostics. Since CeGaT ExomeXtra® covers all known pathogenic intronic and intergenic variants in addition to all protein-coding regions, it provides an excellent basis for genetic diagnostics.

We believe that all patients should receive the best possible diagnostics. Therefore, as standard in our panels, we screen for single nucleotide variants (SNVs) and copy number variants (CNVs), and check for mosaicisms. If necessary, we validate pathogenic deletions or duplications by MLPA or qPCR before issuing the report. The highest quality is our standard.

For further information on the panel, please get in touch with us at sales@cegat.de.