Table 2

Examples of NGS gene panels in development or currently available to assess TMB

StatusTest nameNumber of genesCoverage (Mb)*Gene variantsSample type
FDA-approved or authorised diagnostic assays†MSK-IMPACT15 56 68 4681.5SNVs, indels, rearrangements/fusions, CNAs, parallel analysis of genomic signatures (eg, TMB and dMMR/MSI)FFPE
Foundation Medicine FoundationOne CDx14 49 3240.8SNVs, indels, CNAs, select rearrangements, parallel analysis of genomic signatures (eg, TMB and dMMR/MSI)FFPE
Commercial assays for research use onlyCaris Molecular Intelligence132 5921.4Somatic missense mutationsFFPE
Illumina TruSight 500 gene panel133 5002.0SNVs and indelsFFPE
Thermo Fisher Scientific Oncomine Tumor Mutation Load Assay77 4091.7SNVsFFPE
NEO New Oncology
NEOplus v2 RUO134
>3401.1SNVs, indels, fusions, CNAs, parallel analysis of TMB, MSI, and driver mutationsFFPE
Foundation Medicine FoundationOne50 3151.1SNVs, indels, CNAs, select gene rearrangements, genomic signatures for MSI and TMBFFPE
Foundation Medicine bTMB assay88 122 3941.1SNVsBlood
TruSight Tumor 170135 1700.5Fusions, splice variants, SNVs, indels, amplificationsFFPE
QIAGEN GeneRead DNAseq Comprehensive Cancer Panel97 1600.7SNVs, CNAs, indels, and fusionsFFPE
NEO New Oncology NEOplus105 136 94SNVs, indels, CNAs, rearrangements, and fusionsFFPE
  • *Exonic breadth of coverage for the above assays is incomplete because public information may not be available for some assays.

  • †FoundationOne CDx has FDA premarket approval for mutations associated with several targeted therapies. In addition, FoundationOne CDx can provide tumour mutation profiling to be used by qualified healthcare professionals in accordance with professional guidelines in oncology for patients with solid malignant neoplasms.137 MSK-IMPACT is FDA-authorised to provide information on somatic mutations and MSI. TMB is captured as part of the enhanced report and is considered for investigational use only.13 15

  • CNA, copy number alteration; dMMR, mismatch repair deficiency; FFPE, formalin-fixed, paraffin-embedded; MSI, microsatellite instability; Mb, megabases; NGS, next-generation sequencing; SNV, single nucleotide variant; TMB, tumour mutational burden.