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Genetics


Changes in the genome can cause serious diseases. The main concern of the CeGaT, member of GHCA, is to identify disease-causing changes in patients. For this, the CeGaT works closely together with the Practice of Human Genetics, Tübingen. All steps, starting with counselling a patient and his/her family, through examination and genetic testing to creation and transmission of a medical assessment report, are carried out by expert team.

Diagnostic panels.

Traditionally, the high costs and enormous expenditure of time associated with DNA sequencing has allowed an examination of only a few genes at a time for a given patient. Using this approach, the causative gene mutation can be very difficult to find in clinically diagnosed patients with a suspected genetic disease.

For this reason, CeGaT developed Diagnostic Panels to enable accurate diagnosis and optimal treatment for patients, without the limitations of traditional DNA sequencing and analysis. CeGaT's Diagnostic Panels take advantage of next-generation sequencing technologies, which facilitate the process of simultaneously analyzing all known genes associated with a certain disease. This represents a significant advantage in the diagnosis of genetic diseases.

One of the unique features of CeGaT's Diagnostic Panels is our "large panel approach". Each time a panel is ordered, we sequence the primary genes on that disease-specific subpanel as well as all genes known to be associated with that type of disorder. If a primary clinical diagnosis cannot be confirmed from the subpanel, we then have the ability to look at the additional genes that were sequenced without having to go back and perform another test. Our experts work closely with the treating physician to determine the need for a secondary analysis. We believe this approach enhances the probability of finding the causative mutation in a patient and confirming a diagnosis.

A final medical report is issued to the ordering physician that contains detailed information about genetic variants detected in the panel. All variants are validated by Sanger sequencing in the laboratory. Our diagnostic team interprets the variants according to the most current scientific findings and literature.

The purpose of our Diagnostic Panels is to pinpoint the genetic cause of a disease within an affected patient or family. This enables us to:
  • Secure a clinical diagnosis.
  • Offer a targeted investigation of other family members.
  • Allow early therapeutic intervention.
  • Make a prognostic assessment of the disease.
  • Lay the basis for long term new therapeutic approaches.
Currently, we have 165 different diagnostic subpanels for diseases listed below. As noted, we perform the initial targeted evaluation on the subpanels but we always simultaneously sequence all of the genes associated with the particular disease area. For example, we sequence all 400+ genes associated with epilepsies and migraines if an epilepsy subpanel is ordered.

Tumor Diagnostics.

CeGaT offers Tumor Diagnostics which includes two extensive tumor panels (Somatic Tumor Panel and Germline Tumor Syndromes) and the analysis of whole exomes. Due to the identification of germline and somatic mutations a differentiated diagnosis, follow-up and therapeutic strategy is possible.

The CeGaT tumor panel diagnosis contains the complete sequencing of all genes using next-generation sequencing on the HiSeq 2500, Illumina system, the data analysis and the Issuing of a medical report by our experienced team of scientists and specialists in human genetics. The found potentially pathogenic variants in the Germline Tumor Syndromes are validated by traditional Sanger sequencing.

Somatic tumor panel.

The Somatic Tumor Panel comprises more than 550 genes with known mutations that can have an impact on tumor development. For the detection of somatic mutations a normal tissue sample (usually blood) is needed in addition to a sample of the tumor. The identification of somatic mutations provides a more detailed diagnosis of tumors and can support treatment decision. Sequencing of genes contained in the panels is performed via next-generation sequencing on the HiSeq 2500, Illumina platform. The sequencing data is analyzed and a medical report is issued by our team of experienced scientists and medical doctors. For the CeGaT Germline Tumor Syndromes potentially pathogenic variants are validated with Sanger sequencing.

Tumor whole exome.

In addition CeGaT offers the sequencing of complete exomes in order to identify all exonic somatic mutations. As for the CeGaT Somatic Tumor Panel tumor and normal tissue samples are needed for this analysis. The sequencing is performed on the HiSeq 2500, Illumina. The Tumor Whole Exome comprises more genes (> 20,000), but these genes are sequenced at a lower coverage (100 fold vs. 500-1000 fold for the Somatic Tumor Panel and Germline Tumor Syndromes).

Germline tumor syndromes.

The Germline Tumor Syndromes is designed for diagnosis of hereditary tumor syndromes. 109 genes associated with a significantly increased risk of developing malignomas can be analyzed simultaneously. Subpanels comprising genes relevant for specific tumor syndromes are available. Depending on the family history, one or more subpanels can be analyzed. Subpanels are currently available for breast and ovarian cancer, colon cancer, familial melanoma, familial tumor syndromes, Fanconi anemia, pancreatic cancer, pheochromocytoma/ paraganglioma, prostate cancer, renal cell cancer and xeroderma pigmentosum.

Single Gene Testing.

CeGaT a global leader in human molecular genetics, offers more then over 500 discrete single gene tests for a large range of disease states including retinal diseases, neurodegenerative diseases, neuromuscular diseases, metabolic disorders, mitochondrial diseases, as well as many other rare diseases.

Sanger sequencing has long been considered the gold standard for direct sequence analysis of DNA. Despite advances in next-generation sequencing technology, this method remains in widespread use in laboratories around the world. Sanger sequencing yields highly accurate results and it is particularly useful for small-scale applications, such as single gene testing. After amplification of the DNA coding segments and adjacent regions via PCR, sequencing is performed using the 96-capillary 3730xl DNA Analyzer from Applied Biosystems. Additionally, we offer tests for deletions and duplications of over 300 genes using either MLPA or quantitative real-time PCR. Quantitative real-time PCR is carried out on the Quant Studio 12K Flex Real-Time PCR System from Applied Biosystems. Another service we offer is fragment length analysis by capillary electrophoresis.
  • Center for Genomics and Transcriptomics - CeGaT.
  • Tübingen.