Tumor Mutational Burden

Measurement of the biomarker TMB


Tumor mutational burden (TMB) is a biomarker that measures the number of somatic mutations present in a cancer patient’s tumor and is quantified as mutations per megabase (mut/Mb). This metric can be used in order to stratify patients for the best treatment choice and support the thriving development of new immunotherapy combinations. Another key immunotherapy biomarker is the microsatellite instability (MSI), which is caused by failure of the DNA mismatch repair system.

With German DAkkS ISO 15189 and American CAP/CLIA accreditation, CeGaT can offer quality assured TMB and MSI evaluation for your clinical and research study. Different options are available, depending on your needs and the availability of patient material.

Technical Information

At CeGaT, paired-end sequencing (2x100bp) is performed using the state-of-the-art Illumina NovaSeq6000 Sequencing System.

If customers require sequencing parameters other than those presented in our product portfolio, please let us know! We can provide further solutions.


Turnaround time

Sequencing data are delivered within 10 – 20 working days.

A fast track option is available upon request.

The turnaround time (TAT) highly depends on the quality of the provided DNA and the requested bioinformatics level.

Data delivery

Up to 70 Gigabyte of data will be available for download from our download portal FTAPI, a secure end-to-end encrypted system.

Upon request, as well as for large sample batches, data can also be delivered via external hard drive, or uploaded to your own server.


Sample storage

The original samples and, if applicable, the isolated nucleic acids will be stored at CeGaT for a period of 3 months after data delivery.

Data storage

Data will be irrevocably deleted after 5 months.


Raw sequencing data are automatically processed in order to facilitate immediate genetic evaluation. Included in delivery are demultiplexed, and adapter trimmed FastQ files.

Further options for bioinformatic analyses are available depending on the selected product:

  • Tumor Mutational Burden (TMB)
  • Microsatellite Instability status (MSI)
  • Alignment of trimmed sequencing data (BAM format)
  • Calling and annotation of SNVs (hg19, mm10)
  • Calling and annotation InDel
  • Large homozygous deletions calling
  • Fusion and splice variants*

*based on TSO500 RNA analysis

Start Your Project Now

We are happy to discuss sequencing options and find a solution specifically tailored to your clinical study or research project.

You help us by specifying sample information including starting material, number of samples, preferred library prep option and required bioinformatics.

Explore our TMB product portfolio

TIO PanelTIO ExomeTSO500
Sequencing panelSomatic Tumor Panel
(CeGaT GmbH)
Whole exome sequencing (Twist Bioscience)TruSight Oncology 500*
Gene panel size (Mb)2.2371.94
Number of analyzed genes>700~ 20,000523
Analysis of tumor and normal tissueyesyesno
Selection of our bioinformatic optionsTMB, MSI, alignment, variant calling (SNVs/InDels), annotation and filtering

Based on the CeGaT bioinformatic pipeline

TMB, MSI, alignment, variant calling (SNVs/InDels), annotation and filtering

Based on the CeGaT bioinformatic pipeline

TMB, MSI, alignment, variant calling (SNVs/InDels), annotation and filtering

Based on the TSO500 (Illumina) bioinformatic pipeline

TIO: Tumor Immuno-Oncology; *additional analysis of fusion and splice variants available using the TruSight Tumor 170 (Illumina) – RNA panel
Starting material: high-molecular weight DNA, or fragmented DNA (FFPE)