Tumor Mutation Burden – test – MedGenome – Leading Genetics Diagnostics Lab in India

What is Tumor Mutation Burden (TMB)?

Tumor Mutation Burden
  • It is a genomic biomarker that quantifies the frequency of somatic(acquired over  lifetime) mutations in a patient’s tumor
  • A high TMB correlates with an aggressive tumor rapidly evolving with high incidence of somatic mutations in the tumor genome

Tumor Mutation Burden


tumor mutational burden testing

As per GLOBOCAN 2020 report

  • 19.3 Million people are affected by Cancer
  • Global cancer burden is expected to reach 28.4 million cases in 2040 which signifies 40% increase in the next 20 years

Common Cancers

Lung Cancer

Breast Cancer

Ovarian Cancer

Prostate Cancer

Gastrointestinal Stromal Tumor

Thyroid Cancer

Colorectal Cancer


Bladder Cancer

Uterine Cancer

Pancreatic Cancer

Hepatocellular Carcinomas


Thymus Cancer


Why do you need the test?

tumor mutation
  • TMB is associated with improved response rate to immune checkpoint inhibitors
  • It expands the population of patients who can be considered candidates for immunotherapy beyond standard PD-L1 testing
  • FDA has approved Pembrolizumab for treating adult and pediatric patients with unresectable or metastatic solid tumors with high TMB (>10 Mut/Mb) that have progressed following previous therapy

Advantages of MedGenome’s Tumor Mutation Burden Test

  • Provides quantification in terms of TMB score & accurate information on actionable mutations
  • Single test that analyses all guideline-recommended genes in solid tumors
  • Accurately identifies genomic alteration in >450 gene with therapeutic / prognostic relevance
  • Covers 1.65 Mb genomic region, across >450 genes with median depth of coverage of 300X (LOD of 5% for SNVs and 10% for Indels)
  • Panel is extensively validated using clinical specimens and standards
  • Includes Unique Molecular Index based testing
In-house Validation Results

LOD5% for SNVs and 10% for Indels


  • The scope of this NGS testing limits to TMB analysis (in DNA)
  • Cytosine deamination has significant impact on the score of TMB. The role of cytosine deamination artifacts (C>T) due to poor tissue fixation, age of the block and any other specimen processing related parameters, which are beyond the measure for quantification cannot be ruled out
  • Our threshold for tissue deamination is <10%
  • TMB Score is dependent on the choice of genes and the size of the panel
  • TMB testing is an evolving biomarker and there are no universal guidelines for the choice of genes and methodology used for the calculation of TMB
  • Different cancers and gene panels may have different cut-offs for Low, Intermediate and High. The current validation on this panel, is based on a limited subset of diverse cancer types from Indian cancer patients


Tumor Mutation Burden

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