To improve diagnostic yield and reflect current research, CeGaT has expanded its Diagnostic Panels for Skin and Kidney Diseases. Built on our proprietary ExomeXtra® enrichment, the panels cover coding regions, disease-relevant non-coding variants, and enable genome-wide CNV detection. This combination makes our panels an ideal tool for identifying the genetic cause of a disease.
Diagnostic Panel for Skin Diseases
We have added 51 additional genes to this panel, enhancing our ability to diagnose a wide range of genetic skin conditions. A unique feature of this panel is RMRP – a non-coding RNA gene that is already part of CeGaT’s panel and plays an important role in rare syndromes affecting hair, skin, and bones. Non-coding RNA genes are often overlooked in conventional diagnostics. Their inclusion reflects our commitment to covering all clinically relevant regions beyond protein-coding regions to ensure the most comprehensive analysis possible.
Diagnostic Panel for Kidney Diseases
This panel has been expanded by 52 additional genes to improve the diagnostic yield for hereditary kidney diseases. In addition, we now offer a new gene set specifically designed for the diagnosis of nephrocalcinosis and nephrolithiasis (KID22).
Genetic forms of nephrocalcinosis and nephrolithiasis may result from various underlying mechanisms. Among them are, for example, tubular dysfunction, disturbances in calcium, phosphate, or oxalate metabolism, and impaired renal transport processes. Accurate molecular diagnosis is essential for understanding the cause and initiating targeted management – such as dietary modifications, medication, and long-term monitoring strategies.
For detailed information or diagnostic support regarding our panels, contact us at +49 (0) 7071 565 44 55 or diagnostic-support@cegat.com.