Genetic Analysis of the Tumor Diagnostics. Man hugs woman in the nature.

Update and Extension of Tumor Diagnostics

Diagnostics based on the analysis of tumor tissue plays an increasingly relevant role in the treatment of patients with tumor diseases. The more comprehensive the diagnostics, the faster the treating physicians receive all the information relevant for therapy decisions. Time is crucial for the patient, and the highest possible quality must be guaranteed.

CeGaT has many years of experience in the field of tumor diagnostics. Based on the latest scientific findings, the company has now expanded and optimized its comprehensive panel for Somatic Tumor Diagnostics (TUM). The panel is used to identify somatic changes in the tumor genome that are different for each tumor and that significantly influence the effectiveness of drugs and drug resistance. The findings from somatic tumor diagnostics are the basic prerequisite for targeted treatment.

Maximum information about the tumor with only one test

CeGaT’s somatic tumor panel now comprises 766 genes on 2.25Mb coding sequence (1Mb = 1 megabase = 1 million positions of genome). Tumor and normal tissue are sequenced in parallel (2X 2.25Mb). To detect subclonal variants, for example, in a liquid biopsy, we sequence at a high average sequencing depth (500-1,000x). For treating physicians and interdisciplinary tumor conferences, the most relevant aspect are germline changes in DNA repair genes (mismatch and homologous recombination deficiency), tumor mutation burden (TMB = Tumor Mutational Burden), HRD (homologous recombination deficiency) in the tumor, driver fusions, copy number changes, and driver mutations.

To our knowledge, there is currently no other tumor diagnostic that is more diagnostically sensitive and comprehensive. We want to offer the best product on the market for our patients and cooperating physicians. We have the highest standards and are not only nationally accredited (by the DAkkS) but also internationally (by CAP/CLIA).

Testing for heredity of tumor disease and pharmacogenetics is a central component of our diagnostics

The detection of inherited and thus possibly disease-causing variants in the genes is essential for therapy decisions and also for accompanying the affected patients. Aftercare can also mean prevention, and predispositions must therefore be recognized in time.  Every fifth tumor develops based on an inherited predisposition. This knowledge is as relevant for the therapy of the affected patients as it is for predictive diagnostics in healthy family members.

Furthermore, genes that are of direct importance for the metabolism of drugs are analyzed (pharmacogenetics, PGX). In this context, variants can lead to a considerably increased toxicity of drugs. This fact should be recognized before starting a therapy to spare the patient considerable side effects. If therapy-relevant changes in PGX genes are found, these are listed in the medical report.

Option for an extended medical report with clinical studies and re-evaluation

CeGaT offers not only a compact medical report with all essential information but also an extended version of the report. In the extended version, we provide information on the biological function and prevalence of the detected variants as well as a detailed description of possible treatment options, combination therapies, and possible resistance mechanisms. The report is supplemented by an individualized list of eligible FDA- and EMA-approved drugs.

CeGaT’s diagnostic services also include the regular re-evaluation of our findings against the background of new scientific findings or newly approved drugs, which can be requested at any time and is available free of charge. We also re-evaluate variants of unclear clinical significance (VUS) in order to ensure that families are cared for throughout the course of the disease and also to increase the diagnostic clarification rate in the future.

For further information, please do not hesitate to contact us personally or at sales@cegat.de. Our diagnostics can be requested here.