Choose the Leader in Genetic Analyses

High throughput technology meets outstanding scientific expertise

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.

Research and Pharma Solutions

For research and the pharmaceutical industry, CeGaT offers a broad portfolio of sequencing services and tumor analyses. CeGaT generates the data basis for clinical studies and medical innovations and advances science with its own findings.

About Research and Pharma Solutions

Our vision is to make next-generation sequencing available to all life scientists and to bring diagnostic knowledge into sequencing service. We employ state-of-the-art sequencing technology. This, combined with our outstanding customer care and our know-how gained in clinical diagnostics, enables us to stand out from competitors. Every project at CeGaT is supervised by a dedicated project manager from start to completion. We are flexible and can accommodate the requirements of our clients.

What you get:

  • Processing according to diagnostic standards
  • Project management by skilled experts
  • Made in Germany

All of our services can be tailored to your requirements, such as isolation of nucleic acids, data output format, or further bioinformatic analyses.

Sequencing Services

Genome Sequencing

Get the most comprehensive collection of an individual’s genetic information. By comparing the individual to a reference genome, variations can be studied. These alterations can include single-nucleotide variants (SNVs), small insertions and deletions (indels), copy-number variations (CNVs), and structural variants (SVs).

Whole Genome Sequencing

Fast and precise, suited for your research. CeGaT offers a comprehensive service from DNA extraction to tailored data analysis. Application areas and objectives for exome sequencing are diverse and range from research on population genetics, genetic disorders, or rare disease to tumor research.

Transcriptome Sequencing

Analysis of all RNA molecules of a biological sample. Transcriptome sequencing is carried out in basic research as well as in applied clinical research. We offer whole transcriptome sequencing (WTS), as well as sequencing of the coding transcriptome (CTS) or flexible solutions (TS).

Discover more about our comprehensive sequencing services and choose the best option for your research. Additional sequencing services are available: Panel Sequencing, Ready to Load Sequencing, Single-cell RNA Sequencing, Small RNA Sequencing.

Microbiome Analysis

CeGaT`s Shotgun metagenomic sequencing is the best choice when microbiomes need to be thoroughly characterized, including accurate identification of microbial species and their functional repertoire.

16S Sequencing

16S Sequencing enables the accurate detection of bacteria and archaea in various sample types, including stool, skin, saliva, soil, and plant material. Based on amplification and sequencing of the 16S rRNA gene, bacterial profiling is the method of choice for microbiome samples with relatively small numbers of bacteria and archaea.

Shotgun Metagenomic Sequencing

Shotgun Metagenomic Sequencing allows accurate detection of all microbes (bacteria, archaea, fungi, protozoa, viruses) and enables analysis of their functional repertoire. Metagenomic profiling, also known as shotgun metagenomics, involves sequencing all DNA fragments. Metagenomic profiling is the best choice when microbiomes need to be thoroughly characterized, including accurate identification of microbial species and their functional repertoire.


Microbiome analysis has many applications and is suitable for disease surveillance, detection of microbial biomarkers, drug development, and characterization of environmental microbiomes.

Translational Oncology

Liquid Biopsy

The applications of liquid biopsy are numerous and range from monitoring tumor disease or treatment response to patient stratification or early detection of therapy resistance. CeGaT’s sequencing and digital PCR services provide reliable and accurate insights into liquid biopsies, from nucleic acid extraction to customized data analysis. Your project will benefit from our many years of expertise in the diagnostic field and thus from our strict quality standards and practical knowledge.

Tumor Mutational Burden

A biomarker which has been identified as particularly useful for immunotherapy is tumor mutational burden (TMB). TMB refers to the number of mutations present in a cancer patients’ tumor and is quantified as mutations per million base pairs (mut/Mbp). Another key immunotherapy biomarker is the Microsatellite Instability (MSI) status. We offer different solutions for determining the TMB and MSI score as part of your study, depending on your needs and the availability of patient material.


HLA Typing

HLA Typing: The Human Leucocyte Antigen (HLA) system is a group of genes encoding proteins that determine the human-specific immune response.  CeGaT´s HLA sequencing service offers reliable and accurate insights into HLA types. NGS-based HLA typing can identify HLA-matched donor-recipient pairs for transplantation, facilitate individual therapy response using pharmacogenetics, or provide information on specific responses for immunotherapy of cancer. Our service covers all steps, from DNA extraction to data analysis.

T-Cell Receptor Sequencing

T-Cell Receptor Sequencing: Located on the surface of T-cells, the T-cell receptor (TCR) is relevant for the recognition of antigens presented by the major histocompatibility complex (MHC) molecules on antigen-presenting cells. CeGaT´s TCR sequencing service offers the ability to investigate almost the entirety of the T-cell repertoire. We provide our customers with information about diversity, clonality as well as changes in the repertoire or single TCR clones (TCR clone tracking) for different time points.

Investigation of TCR repertoire can provide:

  • Insights into functions of T-cells in immune response, e.g. immunosuppression
  • Monitoring drug therapies, such as immunotherapies in cancer as well as the related change in T cell status
  • Improvement of personalized medicine by tumor-infiltrating T-cell analysis

Tomorrow’s Genetic Research and Diagnostics Available Today

We are continuously growing and expanding to strengthen our position as your partner of choice for research projects – today and tomorrow. Our dedicated project management team of scientists and bioinformaticians works closely with you to develop the best strategy to realize your project. Depending on its scope, we select the most suitable library preparation and sequencing conditions on our Illumina platforms. We would be pleased to provide you with our award-winning service. All project steps are carried out in-house and under constant scientific supervision to maintain the best results. CeGaT is accredited according to CAP/CLIA and DIN EN ISO/IEC 17025, hence meeting high international laboratory standards. We are a privately held, independent company that only delivers fast, reliable, and trusted quality made in Germany.

Start your project now!

We are happy to discuss sequencing options and to find a solution specifically tailored to your clinical study or research project. When getting in contact, please specify sample information, including starting material, number of samples, preferred library prep option, preferred sequencing depth, and required bioinformatics, if possible.

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:

  • 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.

Additional Services

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

In-house developed end-to-end bioinformatic pipeline

Clinical reports based on up-to-date knowledge, checked by four specialists

Free of charge VUS re-evaluation program

Optional pre-and post-testing medical consultancy for your patients

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

Contact Us

Do you have a question or are you interested in our service?
Feel free to contact us. We will take care of your request as soon as possible.

Your Local Support

James Hewinson

RPS Sales Manager UK and Ireland

Mobile: +44 7507 655 811
CeGaT: +49 7071 565 44 0
Fax: +49 7071 565 44 56