About
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.
Delivery
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.
Storage
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.
Bioinformatics
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.
