Table 2.
Examples of NGS gene panels in development or currently available to assess TMB
| Status | Test name | Number of genes | Coverage (Mb)* | Gene variants | Sample type |
| FDA-approved or authorised diagnostic assays† | MSK-IMPACT15 56 68 | 468 | 1.5 | SNVs, indels, rearrangements/fusions, CNAs, parallel analysis of genomic signatures (eg, TMB and dMMR/MSI) | FFPE |
| Foundation Medicine FoundationOne CDx14 49 | 324 | 0.8 | SNVs, indels, CNAs, select rearrangements, parallel analysis of genomic signatures (eg, TMB and dMMR/MSI) | FFPE | |
| Commercial assays for research use only | Caris Molecular Intelligence132 | 592 | 1.4 | Somatic missense mutations | FFPE |
| Illumina TruSight 500 gene panel133 | 500 | 2.0 | SNVs and indels | FFPE | |
| Thermo Fisher Scientific Oncomine Tumor Mutation Load Assay77 | 409 | 1.7 | SNVs | FFPE | |
| NEO New Oncology NEOplus v2 RUO134 |
>340 | 1.1 | SNVs, indels, fusions, CNAs, parallel analysis of TMB, MSI, and driver mutations | FFPE | |
| Foundation Medicine FoundationOne50 | 315 | 1.1 | SNVs, indels, CNAs, select gene rearrangements, genomic signatures for MSI and TMB | FFPE | |
| Foundation Medicine bTMB assay88 122 | 394 | 1.1 | SNVs | Blood | |
| TruSight Tumor 170135 | 170 | 0.5 | Fusions, splice variants, SNVs, indels, amplifications | FFPE | |
| QIAGEN GeneRead DNAseq Comprehensive Cancer Panel97 | 160 | 0.7 | SNVs, CNAs, indels, and fusions | FFPE | |
| NEO New Oncology NEOplus105 136 | 94 | SNVs, indels, CNAs, rearrangements, and fusions | FFPE |
*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.