Update and Extension of the Panel for Skin Diseases

As part of the continuous development of our diagnostic panels, we have updated and extended the Diagnostic Panel for Skin Diseases according to the latest medical findings. The hereditary skin diseases cutis laxa and hereditary angioedema are now separate gene sets and can be requested individually.

Genetic defects cause many dermatological diseases. A precise diagnosis helps you to identify risks associated with the disease and to initiate appropriate preventive examinations. CeGaT’s Diagnostic Panel for Skin Diseases includes 266 genes organized into 14 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 Skin Diseases 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. In addition, deletions and duplications are detected.

We believe that all patients should receive the best possible diagnostics. Therefore, we screen for single nucleotide variants (SNVs) and copy number variants (CNVs) as standard in our panels 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.

The new panel can be requested here.

For further information on the panel, please contact us at sales@cegat.de.

More About Our Diagnostic Panel