Tumor Mutational Burden Analysis

Tumor Mutational Burden (TMB) is a putative biomarker of response to checkpoint inhibitor therapy. Our TMB assay is a component of our comprehensive immuno-oncology assay portfolio and is available for RUO or GCP applications.

Highlights:

TMB assay available in two formats: tumor-only specimens or matched tumor and germline control blood specimens.
Based on validated WES assay targeting ~60Mb of coding region of the human genome.
TMB tumor-only WES method modeled across multiple tumor indications.
High quantitative precision (CV% ≤20%) for TMB >2, suitable for TMB analysis across a wide range of cancer indications including those with traditionally low TMB.

IQVIA Laboratories

IQVIA Laboratories TMB (WES)¹	1.5 (N=123)	2.4 (N=38)	2.4 (N=100)	4.6 (N=64)	8.7 (N=39)	10.1 (N=258)	13.2 (N=113)
Published TMB²	1.8 (N=220)	2.5 (N=1456)	2.7 (N=543)	4.5 (N=7758)	7.2 (N=80)	9 (N=2102)	14.4 (N=879)

¹Median TMB scores generated from TCGA whole exome sequencing reads through our pipeline
²Median TMB scores per Chalmers et al., Genome Medicine 2017
³ https://gdc.cancer.gov/about-data /publications/mc3-2017
LGG=Lower Grade Glioma, CHOL=Cholangiocarcinoma, KIRC=Renal Clear Cell Carcinoma, COAD=Colon Adenocarcinoma, BLCA=Urothelial Carcinoma, LUSC=Lung Squamous Cell Carcinoma,
SKCM=Cutaneous Melanoma, BRCA=Breast Invasive Carcinoma, HNSC=Head-Neck Squamous Cell Carcinoma, LUAD=Lung Adenocarcinoma, SKCM=Cutaneous Melanoma; STAD=Stomach Adenocarcinoma

TMB assay specifications
Sample Types	Tumor tissue (FFPE, fresh frozen or DNA specimens) Normal tissue, optional (PBMC, whole blood or DNA
DNA Requirements	250 ng DNA
Assay Method	Whole Exome Sequencing
System Compatibility	NovaSeq
Assay Performance	>99.9% accuracy of variant calling for variants above 10% allelic frequency Quantitative precision ≤20% CV% across TMB range of 2-32
Deliverables	TMB score, FASTQ, BAM, annotated VCF files

Immuno Assay Portfolio

Our TMB assay is a component of our comprehensive immuno-oncology assay portfolio which includes other assays such as Immune Landscape Signature and Microsatellite Instability.