Update of the Diagnostic Panel for Liver Diseases

February 16, 2023

The Diagnostic Panel for Liver Diseases has been extensively revised and expanded to include a higher-level gene set for cholestasis (LIV-10).

The exact pathomechanism of liver disease is often difficult to determine. Therefore, a new overarching gene set has been created to increase the diagnostic panel’s clinical usability. The new gene set for cholestasis (LIV-10) includes 42 genes and facilitates clarification of the genetic cause of liver disease. The gene sets for the diagnosis of progressive familial intrahepatic cholestasis (LIV-01) and for the clarification of lysosomal storage diseases with liver involvement (LIV-06) can still be requested separately.

The diagnostic panel for liver diseases includes the following gene sets:

  • Progressive familial intrahepatic cholestasis (10 genes, LIV-01)
  • Lysosomal storage diseases with liver involvement (5 genes, LIV-06)
  • Cholestasis (42 genes, LIV-10)

Additional gene sets clinically associated with liver involvement can be requested through the Diagnostic Panel for Metabolic Diseases, incl. Mitochondriopathies.

Analysis based on in-house exome enrichment

For all diagnostic panels, we sequence the whole exome. Exome sequencing 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.

Further information on our Diagnostic Panel for Liver Diseases can be found here.

We will be happy to assist you in selecting the most appropriate diagnostic strategy for your patients. Call us at +49 (0) 7071 565 44 55 or send us an e-mail at diagnostic-support@cegat.com.