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.

A-ADAM, a new EU-funded project developing test systems for Alzheimer’s disease

Age-related neurodegenerative disorders represent a considerable medical and economic challenge for the health care sector. However, drug development for neurodegenerative disorders is severely hampered by a lack of predictive test systems in the preclinical phase.

To address this need, the EUREKA-Eurostars initiative of the European Union approved a project grant to E-PHY-SCIENCE in Valbonne, France, CeGaT GmbH in Tübingen, Germany and the NMI at the University of Tübingen. The project aims at the development of novel drug test systems for Alzheimer’s disease. A new animal model, an in vitro test system and a new diagnostic test will be generated by combining an established genetic animal model for Alzheimer’s disease with another animal model for age-dependent mitochondrial impairment.

The partners expect a considerable improvement over current drug test systems for age-dependent neurodegeneration which will speed up the validation of novel treatments.

http://www.e-phy-science.com/

http://www.nmi.de/en/

New: Focus panels for cost effective genetic analysis for well characterized clinical pictures

CeGaT now provides sequencing analysis of distinct gene sets (focus panels) for the genetic clarification of well-defined clinical diagnoses. Each new focus panel contains a specific selection of genes. The focus panel analysis therefore represents a cost effective alternative to the large diagnostic panels in cases with clear and characterized disorders. The genes of the respective focus panels are sequenced and interpreted in parallel which allows for fast processing times.

The new focus panels cover a variety of different genetic disorders across several medical fields and, for some disease classifications, they broaden the existing CeGaT large panel portfolio. For example, from now on mutations in genes associated with glucose metabolism may be analyzed, therefore providing a reliable MODY (Maturity Onset Diabetes of the Young) syndrome diagnostic test. Furthermore, CeGaT now substitutes the previous multi-stage Sanger diagnostic process for Hereditary haemorrhagic telangiectasia (HHT) or Afibrinogenemia/Dysfibrinogenemia with the faster, and more cost effective NGS based focus panel analysis.

CeGaT now provides focus panels for the following diseases:
Afibrinogenemia/Dysfibrinogenemia, Common variable immune deficiency, Tuberous sclerosis, Hereditary breast and ovarian cancer (small), Hereditary breast and ovarian cancer (large), Lynch syndrome, Hereditary hemorrhagic telangiectasia (HHT), Neurofibromatosis, Hyperekplexia, Holoprosencephaly, Refsum disease, Episodic ataxia, Dopa-responsive dystonia, Neuropathic pain syndromes, Malignant hyperthermia, Familial intrahepatic cholestasis, Maple syrup urine disease, Maturity onset diabetes of the young (MODY), Kabuki syndrome and Craniosynostoses.

View focus panels