Panel Update: Hereditary Kidney Disease Diagnostic Panel

We have updated our panel for kidney diseases according to new scientific findings. In total, more than 100 new genes have been included, so additional differential diagnostic options are now available. This increases the likelihood of finding the causal variant for many hereditary kidney diseases.

The expansion of the total number of analyzed genes results in several improvements which affect the already existing specialized gene sets:

  • In the new version, the gene set for cystic kidney disease (KID02) will be expanded by genes which reflect the recessive inheritance. Furthermore, we now offer clearer predefined options for PKD1 / PKD2 diagnostics:
    • KID02 complete – including PKD1 / PKD2,
    • KID02 without PKD1 / PKD2,
    • PKD1 / PKD2 alone, without the other genes in the gene set.
  • The Alport syndrome (KID07) gene set has been extended to allow a differential diagnosis of thin basement membrane type nephropathies.
  • For the Bartter syndrome (KID10) gene set, the number of genes analyzed was increased from 8 to 17. Which means further differential diagnoses are now possible, particularly for hypomagnesemia.

Furthermore, we are launching KID16, a completely new gene set for primary heritable aminoaciduria. This set contains 8 genes and is now an integral part of the hereditary kidney disease panel.

For further information about the changes to the panel, please contact our diagnostic support team (diagnostic-support@cegat.de). The updated hereditary kidney disease panel is available now and can be ordered here.