Tumor Mutational Burden Analysis

About Tumor Mutational Burden

Tumor mutational burden (TMB) is a novel biomarker and a newly established independent predictor of immune checkpoint inhibitors (ICIs) treatment outcome. TMB is measured as the number of somatic mutations per megabase [Mb] of sequenced DNA. Studies show that patients with a higher number of somatic tumor mutations (TMB-High) are likely to harbor more neoantigen burden, and have been found to have more benefit from ICI therapy compared with patients who had fewer mutations.

Tumor Mutational Burden Analysis

The gold standard for measuring TMB has been whole exome sequencing (WES). Taken tissue availability as well as time and cost constrains into consideration, targeted NGS panel with a proper composition of cancer genes is nowadays widely used in routine molecular diagnostics, which requires smaller DNA input amounts and provide a simpler, deeper and faster bioinformatics analysis process, allowing rapid measurement of TMB.

Related Services

In addition, CD Genomics provides Pan-Cancer Panel Sequencing and Whole Exome Sequencing services including sample standardization, library construction, deep sequencing, raw data quality control, and bioinformatics analysis. We provide customized bioinformatics analysis including:

At CD Genomics, paired-end sequencing (2x150bp) is performed using the state-of-the-art Illumina platform.

Tumor Mutational Burden Analysis

If you have additional requirements or questions, please feel free to contact us.

For research use only. Not for use in diagnostic procedures.


  1. Samuel J K, et al. Tumor Mutational Burden as a Predictive Biomarker for Response to Immune Checkpoint Inhibitors: A Review of Current Evidence. Oncologist. 2020, 25(1): e147–e159.
  2. Volker E, et al. Measurement of tumor mutational burden (TMB) in routine molecular diagnostics: in silico and real‐life analysis of three larger gene panels. International Journal of Cancer. 2019, 144: 2303-2312.
  3. Robert M S, et al. Tumor mutational load predicts survival after immunotherapy across multiple cancer types. Nature Genetics. 2019, 51: 202–206.
* For Research Use Only. Not for use in diagnostic procedures.

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