medical report with del/dup analysis

Did you know? We include a copy number variation (deletion/duplication) analysis in every diagnostic panel.

Since 2009 we have been supporting physicians in the diagnosis of their patients. Our genetic panels have the highest detection rates to find causative pathogenic variants.

Did you know? – As part of every NGS analysis, we perform a panel-wide copy number variation (CNV) analysis in order to detect exon/gene deletions and duplications.

Many diseases are caused by the deletion or duplication of exons or whole genes. Consequently, genetic diagnosis is only comprehensive if full CNV analysis is performed.

Our CNV detection algorithm allows us to identify single exon deletions with a sensitivity of >81%. Larger deletions of three or more exons are detected with >96% sensitivity.

Copy number variation is computed using uniquely mapping, non-duplicate, high quality reads using an internally-developed method based on sequencing coverage depth. We use reference samples to create a model of the expected coverage that represents wet-lab biases as well as inter-sample variation. CNV calling is performed by computing the sample’s normalized coverage profile and its deviation against the expected coverage. Genomic regions are called as a copy number variant if they deviate significantly from the expected coverage.

Additionally, we validate our analysis using MLPA or qPCR, once we find deletions or duplications that are associated with the patient’s phenotypes.

The del/dup analysis contributes to CeGaT’s high quality medical reports to provide you with all major analysis options available – without extra fees.

  • Shorten the time to diagnosis dramatically.
  • Prevent unnecessary examinations and long odysseys of diagnostic procedures.
  • Allow personalized treatment options if available.
  • Counsel patients and family members with respect to the disease.
  • Reduce medical expenses.

Please find more information on our diagnostic panels here, or contact our dedicated support via sales@cegat.de.

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/