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CeGaT involved in the discovery of a new disease gene for early childhood Epilepsy

Based on the sequencing of a patient with our Diagnostic Panel for Epilepsy in 2010, a research consortium including groups in Leipzig, Tübingen and other co-operation partner has succeeded in describing a new cause of epilepsy in children in the journal Nature Genetics. It is a potassium ion channel gene (KCNA2), which plays an important role in the conduction of electrical stimuli in the brain. The paper shows that mutations in this gene are involved in the development of epilepsy and partially delayed mental development.

These new findings will give patients a more sophisticated prediction of disease progression and important information about the risk of recurrence within the family. In some cases better treatment and a more targeted therapy can be provided.

The gene KCNA2 is part of the CeGaT Epilepsy & Migraine panels and may at any time be requested. The epilepsy panel is now available in version 6.1 and contains 397 genes.

Details on the study can be found on the website of Nature Genetics.

Update of the Diagnostic Panel for Neurodegenerative Diseases

We have updated the Diagnostic Panel for Neurodegenerative Diseases. The panel now comprises a total of 367 genes. The panel has also been expanded to 24 subpanels, including two new subpanels for Small vessel disease (NDD23, 5 Genes) and Basal ganglia calcification (NDD24, 27 Genes).

For further information on the Panel, please visit the section for Neurodegenerative Diseases.

Diagnostic Panel for Tumor Syndromes has been updated

CeGaT has updated its Diagnostic Panel for Tumor Syndromes. Next to an extension of genes the subpanels for Colon Cancer (CAN01) and Breast and Ovarian Cancers (CAN02) have been subdivided into CAN11, CAN12 and CAN21. Investigations will thus be targeted to smaller subpanels of genes with high and medium risks of cancer. It is possible to later request an extension of an investigation to include other subpanels. The panel now includes thirteen subpanels and a total of 109 genes.

For further information on the Panel, please visit the section for Tumor Syndromes.

CeGaT’s Tumor Diagnostics wins the Industry Award 2015

CeGaT’s innovative approach to Tumor Diagnostics has been recognized with the Industry Award 2015 for the Biotechnology category.

Winners were chosen for each of 14 categories, and CeGaT’s somatic Tumor Panel won the Biotechnology category, garnering a trophy and certificate. The independent jury of the Industry Award 2015 consisted of experts including professors, scientists, industry representatives and journalists. Products and solutions were evaluated on specific criteria, such as the level of innovation (novelty, product maturity, and future orientation), benefits (recognizable benefit, impact on profitability, improved efficiency) and suitability for a mid-sized company (relevance, practicality, implementation).

“Receiving the Industry Award 1015 for the establishment of our Tumor Diagnostics for patient care confirms our work and shows us that we are on the right track,” said managing director Dr. Saskia Biskup, very happy with the honor.

Non-invasive prenatal tests available by Cenata

Since the beginning of May 2015 the non-invasive prenatal test HarmonyTM is being performed in Germany by Cenata GmbH. Cenata GmbH was founded jointly by Labor Enders, CeGaT GmbH and Prof. Dr. Hinrichsen. The HarmonyTM test reliably detects the most common chromosomal disorders in unborn children.

Maternal blood already contains not only genetic information of the mother but also genetic information of the child from an early phase of pregnancy. This so-called “cell-free fetal DNA” (cffDNA) can be investigated for the presence of chromosomal disorders in the unborn child (e.g. trisomy 21 – “Down syndrome”) using the HarmonyTM test. All that is needed is a blood sample from the mother.

The advantages of the HarmonyTM prenatal test at a glance:
  • excellent detection rate of 99.7% for trisomy 21
  • very low false positive rate of 0.06% for trisomy 21
  • excellent clinical validation, e.g. the to date biggest clinical NIPT study with 18,955 patients
  • attractive price: 399 euros for trisomy 21, 18, 13
  • short throughput time of 4-6 days
  • no restrictions on account of a heparin treatment

Further information about the HarmonyTM test and the test procedure can be found on the website of Cenata GmbH.