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New Diagnostic Panel and other Updates

CeGaT develops new Diagnostic Panel for Skeletal Disorders

CeGaT has developed a comprehensive Diagnostic Panel for skeletal disorders. The 13 subpanels (SKT01 to SKT13) include 214 genes which are associated with clinical pictures like metaphyseal, epiphyseal or spondylo-epi-(meta)-physeal dysplasia, micromelic dysplasia, short rib dysplasia, chondrodysplasia punctata, osteogenesis imperfecta and other changes in bone density and bone mineralization, isolated limb hypoplasia and craniosynostosis. Furthermore our Diagnostic Panel for skeletal disorders covers potentially lethal skeletal diseases and syndromes which typically involve changes in the skeleton.

For further information on the Panel, please visit the section for Skeletal Disorders.

Comprehensive update of Somatic Tumor Panel

Research in the field of tumor genetics advanced greatly in recent years. In order to incorporate the latest developments and findings in our Tumor Diagnostics services, the Somatic Tumor Panel has been completely revised and expanded from 551 to 649 genes.

With the updated Somatic Tumor Panel it is now also possible to detect translocations in 28 selected genes. Translocations (such as ALK and ROS1 fusions in lung cancer) play an important role in many cancers, enabling a highly targeted treatment.

For the list of genes and further information please visit the Somatic Tumor Panel section of our website.

Diagnostic Panels for Skin Diseases and Connective Tissue Diseases have been updated

CeGaT has updated and enlarged its Diagnostic Panels for Skin Diseases and Connective Tissue Diseases.

The panel for Skin Diseases now comprises twelve subpanels and has been complemented by the subpanels for Vascular and lymphatic disorders (DRM12) and Progeria syndromes (DRM13). The previous subpanels for ectodermal dysplasia and hypotrichosis and hypoplastic hair have been merged to DRM08. All subpanels have been updated and the number of analyzed genes has increased from 208 to 289 genes.

Also the panel for Connective Tissue Diseases has been updated. The former subpanel for Ehlers Danlos syndrome and differential diagnoses (CTD02) has been enlarged from 30 to 43 genes and is now called “Connective tissue diseases: Ehlers-Danlos Syndrome, Marfan Syndrome, Loeys-Dietz Syndrome, Aortic Aneurysm and Differential Diagnoses”. The panel now also includes genes associated with aortic aneurysm and arterial tortuosity syndrome syndrome and replaces the previous subpanel for Ehlers Danlos syndrome and differential diagnoses (CTD02, 30 genes) as well as the subpanel for aortic aneurysm, Loeys Dietz syndrome and arterial tortuosity syndrome (HRT11, 10 genes).

For further information on the Panels, please visit the sections for Skin Diseases and Connective Tissue Diseases.

Update of the Diagnostic Panels for Cardiac Diseases and RASopathies

CeGaT has updated its Diagnostic Panel for Cardiac Diseases. The panel now comprises a total of 156 genes (last version: 141 genes). All subpanels have been updated.

A new subpanel for Restrictive Cardiomyopathy (HRT12, 7 genes) was included. Subpanel HRT11 (Aortic Aneurysm / Loeys-Dietz Syndrome / Arterial Tortuosity Syndrome) has been replaced by our updated Diagnostic Panel CTD02: Connective Tissue Diseases (Ehlers-Danlos Syndrome, Marfan Syndrome, Loeys-Dietz Syndrome, Aortic Aneurysm and Differential Diagnoses), which now comprises 43 genes.

The panel for RASopathien was extended from 13 to 23 genes.

For further information on these Diagnostic Panels, please visit the sections for Cardiac Diseases and RASopathies.

CeGaT expands diagnostic services: Introduction of Array-CGH in routine diagnostics

As from now CeGaT offers the detection of genomic micro aberrations using microarray / Array-CGH. In comparison to the classical analysis of chromosomes this novel methode reaches a 100-fold improved resolution. Besides exome sequencing the analysis with Array-CGH is the favored method for patients with unclear mental retardation, showing dysmorphological characteristics, with autism related disorders or with multiple innate abnormalities.

Array-CGH analysis is a useful method for the following investigations:
  • Exact characterization of aberrations detected using classical cytogenetics
  • Verification of aberrations that appear to be balanced
  • Characterization of genomic rearrangements
  • Additional analysis of molecular genetic processes (e.g. secondary characterization of MLPA results, validation of NGS results)
We recommend to clarify the assumption of costs with your health insurance. If needed, we provide you with a detailed estimation of costs. For European customers billing via the E112 form is also possible.

Besides the use in human genetic routine diagnostics CeGaT offers the development of specific Array-CGH-assays for the detection of deletions and duplications in selected gene regions with high resolutions.

For further information, please visit the section Array-CGH.

Extension on Sequencing Services

Research: Exome

CeGaT has expanded its product range in the field of sequencing services by offering exome analyses for research purposes.

The service includes exome sequencing and, if required, also comprehensive data analysis. Thereby, the sequencing depth can be adjusted to the specific demand. Customers from research areas are given the opportunity to receive an analysis fitting to their requirements and may also profit from the quality already established in our diagnostics.

Further advantages:
  • Possibility to adjust the protocol depending on the quality and amount of received sample material.
  • In case of receiving samples from several family members pedigrees and inheritance models may be considered.
  • When receiving tumor tissue together with corresponding normal tissue we are able to perform a comparative analysis of tumor vs. normal tissue for the targeted identification of somatic mutations.
Please visit the section Research: Exome for further information.

Transcriptome/mRNA sequencing

CeGaT has expanded our sequencing services to include transcriptome sequencing, also known as transcriptomics. This method is valuable for both basic and clinical research.

Using transcriptome sequencing, the whole RNA content of a biological sample can be detected and quantified. It is helpful for the following objectives:
  • Analysis of differential gene expression
  • Detection of alternative splicing
  • Detection of novel transcripts
The protocol can be adapted to the desired application and the sample limitations. For example, the low-input protocol needs only 1 ng RNA or 200 cells for the analysis to be performed.

For further information regarding transcriptome sequencing, please visit the transcriptome analysis section.

For the official launch of this service, we offer transcriptome sequencing at a special price of EUR 3.990 for 3 groups with 3 biological replicates and respective bioinformatics analysis (VAT not included) until the end of October 2015*.
*when receiving RNA (min. 1 µg RNA, RIN>8), the sequencing mode is 1x 50 bp, with an average output of 30 M/sample, and a processing time of 6-8 weeks