GENETIC INSIGHTS YOU CAN TRUST
Whether you are seeking gene analyses for medical reasons or research and pharmaceutical applications, we can help you along your journey. Join the long list of doctors and patients who have found the genetic causes of rare diseases and the researchers and pharmaceutical companies that have benefitted from genetic analysis for clinical trials and medical innovation. Find the best therapy options and discover the full range of genetic insights you need with CeGaT.
Genetic Diagnostics
As pioneers in the field of genetic diagnostics, CeGaT combines state-of-the-art sequencing technology with its long-standing medical expertise to identify genetic causes of diseases and provide support for patient care. Join the long list of doctors and patients who have found the genetic causes of rare diseases. Find the best therapy options and discover the full range of genetic insights you need with CeGaT.
Exome Diagnostics
CeGaT ExomeXtra® is designed to generate the most comprehensive sequencing data and provide an unmatched foundation for the best genetic diagnostics on the market. Benefit from a unique approach that combines the advantages of whole-exome sequencing (WES) and whole-genome sequencing (WGS) while avoiding their disadvantages. It outperforms commercially available WES and WGS and increases diagnostic yield. Sequencing with CeGaT ExomeXtra® covers all clinically relevant regions throughout the genome and considers factors that are often overlooked in regular genetic testing. Thus, CeGaT ExomeXtra® provides an unmatched basis for the best genetic diagnostics.
CeGaT ExomeXtra® – better than exome, smarter than genome:
- >100x highly uniform diagnostic coverage
- CNV analysis included (gains and losses of full exons or larger regions)
- Mitochondrial genome included
- All known deep intronic and intergenic, likely pathogenic and pathogenic variants included
- If Trio-Exom ist not possible, different kinds of family constellations are possible (like Duo)
- Accounting for reduced penetrance, variable expressivity, imprinting, and mosaicism
Diagnostic Panels
Our panel diagnostics assist you in securing a clinical diagnosis, make a predictive assessment of the disease, and allow early therapeutic intervention. CeGaT has developed a variety of diagnostic panels for a wide variety of disease groups ranging from eye diseases to ciliopathies, as well as a genetic screening panel that examines the most important genetic risk factors for a wide variety of diseases.
CeGaT`s Panel Diagnostics Enables an Accurate Diagnosis:
- Sequencing of CeGaT ExomeXtra®
- Analysis of single nucleotide variants (SNVs), small insertions and deletions (INDELs), and copy number variants (CNVs)
- Known pathogenic intronic variants and phenotype associated mtDNA hotspots included
- Full mtDNA analysis possible
- Chance of identification of mosaicisms
- High average sequencing coverage: >100x (Illumina NovaSeq 6000)
- Medical report written by a team of experts incl. medical doctors specialized in human genetics
Genetic Tumor Diagnostics – CancerPrecision®
Identifying inherited variants and genetic changes within the tumor provides valuable information for choosing the most efficient treatment for each patient. With our long-term experience in genetic testing, we have brought our tumor diagnostic tools to the next level. We aim to identify every possible therapeutically relevant change in the tumor. We have optimized target enrichment and complement by sequencing on NovaSeq6000, the latest and most reliable sequencing technology. With our interdisciplinary team of experts, we uncover and interpret genetic variants responsible for tumor growth, drug resistance, treatment efficacy, and highlight potential pharmaceutical toxicity.
CancerPrecision® is the first-choice genetic diagnostics for cancer patients:
- Full sequencing and analysis of 749 genes and fusions in 33 genes
- High average sequencing coverage to detect subclonal variants: 500-1,000x
- Tumor to normal tissue comparison
- Variants with potential therapeutic relevance
- Tumor Mutational Burden (TMB) determination/MSI prediction
- Homologous Recombination Deficiency (HRD) score determination
- All variants are detected: SNVs, CNVs, InDels, translocations, germline variants
- Comprehensive depiction of cancer-relevant pathways
- Targeted RNA-based fusion transcript analysis possible (detection of fusion transcripts with de-novo and known partners in 106 genes)
Genetic Tumor Diagnostics – Discover Your Additional Options
CancerDetect enables highly sensitive detection of actionable variants from liquid biopsy with low tumor content and, thus, is ideally suited for monitoring and follow-up of tumor disease. Liquid biopsy analysis represents an optimal alternative testing procedure in cases where no tumor tissue is available. Since only a fraction of circulating DNA is derived from the tumor, highly sensitive methods are required to detect minimal ctDNA concentrations. We established our CancerDetect panel using UMI-based technology, which detects sequence variants in actionable, most prevalent hotspots. By very sensitive detection of tumor-specific biomarkers, the analysis of ctDNA can be used as a surrogate marker for treatment response during medical follow-up.
CancerNeo® identifies neoantigens for personalized cancer vaccine design. Personalized cancer vaccines are a powerful tool for boosting the immune system’s response to cancer cells. However, such patient-individualized vaccines require an in-depth understanding of all tumor mutations and the body’s MHC types. CeGaT’s CancerNeo® provides the insights required for the design of vaccines: The analysis of a patient’s tumor exome data detects tumor-specific mutations and predicts neoepitopes, which are essential targets for tumor elimination. The expression of these neoantigens is confirmed by whole RNA sequencing (transcriptome) from the same FFPE tissue.
Discover more about our comprehensive tumor diagnostics and choose the best option for your patients. Additional diagnostic tests are available: CancerEssential®, Diagnostic Panel for Hereditary Tumor Diseases, Disease Prevention Panel.
Non-Invasive Prenatal Test (NIPT)
The Harmony® test is a non-invasive prenatal test. Cenata GmbH was founded jointly by Labor Enders, CeGaT GmbH and Prof. Dr. Hinrichsen. The Harmony® 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 Harmony® test. The informative value of the Harmony® Test, particularly for trisomy 21, is thus many times higher than traditional first-trimester screening. All that is needed is a blood sample from the mother.
CeGaT – Your Partner of Choice for Genetic Diagnostics
With us, you have more chances to find the causative mutation for your patient due to the following features that apply to all our products:
Dedicated Support
We’re available to support you in choosing the diagnostic strategy for individual patients and to discuss the results of the analysis. We kindly ask you to send a summary of the patient’s case (other tests done, diagnosis given, phenotype description, etc.).
To obtain first-class results, all processes are carried out in-house under scientific supervision. CeGaT’s laboratory is accredited according to CAP/CLIA and DIN EN ISO 15189 and thus meets the highest international standards.
Please note: Diagnostic tests can only be ordered by a healthcare professional with a valid medical license. If you are a patient, please ask your specialized medical doctor or general practitioner to fill out and sign the order form. For patients without a treating human genetics specialist, we offer online genetic counseling. You can find more information about online genetic counseling here.
CeGaT Has the Answer to
Complex Genetic Questions
A Highly Qualified and Interdisciplinary Team
CeGaT’s team consists of highly qualified individuals. Interdisciplinarity is our strength. Our expertise and different skills ensure that the optimal solution for your specific needs is identified. And what we all share is a fascination for genetics. We are intrinsically motivated! We are committed to translate the latest research into real-life and practical applications for research and medicine. We are professional, enthusiastic, and remain curious.
Responsibility and Reliability
As genetics experts, we know how essential our work is. That is why we attach the utmost importance to transparent working methods, honest communication, and discretion concerning your data. Throughout the entire process, each customer is advised by an expert from science or medicine. The regular exchange allows us to individually tailor the procedure and adapt it to new circumstances if necessary. As your long-term, dependable partner, we are self-critical and constantly strive to improve quality and speed.
State-of-the-Art Technology
The rapid advancement of technology is constantly increasing the potential of genetic analyses. Therefore, CeGaT not only invests continuously in highly qualified employees but also in the latest equipment. We improve sequencing quality and data analysis by using the most advanced technologies and pipelines available. The company’s five NovaSeq 6000 sequence large quantities of sample material within a very short time and enable projects to be carried out faster than ever before. We pursue the automation of processes to ensure consistent high quality, and both time and cost savings. But even if we aim to automate many processes, we consider human expertise to be indispensable for the evaluation of the results.
Highest Quality Only
Genetic analyses create the base for further, far-reaching decisions. That is why we only deliver results of the highest quality. As we do not want to hand over the responsibility for fulfilling our high requirements, we carry out every step of the process in-house – from sample receipt to the preparation of the final report. Our goal is to provide the most detailed findings for your patients and the highest quality data for your research. We apply the four-eyes principle, and binding standards guarantee the quality of our work: We are accredited according to CAP, CLIA, and DIN EN ISO 15189:2014.