Description of the 11 participating diagnostic NGS panels
Laboratory | Panel name | # genes | Total region covered (Mb) | TMB region covered* (Mb) | Type of exonic mutations included in TMB estimation | Published performance characteristics (ref.) |
ACT Genomics | ACTOnco+ | 440 | 1.8 | 1.12 | Non-synonymous†, synonymous | NA |
AstraZeneca | AZ600 | 607 | 1.72 | 1.72 | Non-synonymous, synonymous | NA |
Caris | SureSelect XT | 592 | 1.60 | 1.40 | Non-synonymous | Vanderwalde et al 40 |
Foundation Medicine | FoundationOne CDx‡ | 324 | 2.20 | 0.80 | Non-synonymous, synonymous | Frampton et al
41
Chalmers et al 25 Fabrizio et al 42 US FDA SSED31 |
Guardant Health | GuardantOMNI§ | 500 | 2.15 | 1.00 | Non-synonymous, synonymous | Quinn et al 43 |
Illumina | TSO500 (TruSight Oncology 500) | 523 | 1.97 | 1.33 | Non-synonymous, synonymous | NA |
Memorial Sloan Kettering Cancer Center | MSK-IMPACT¶ | 468 | 1.53 | 1.14 | Non-synonymous | Cheng et al,44 Zehir et al,30 US FDA32 |
NeoGenomics | NeoTYPE Discovery Profile for Solid Tumors | 372 | 1.10 | 1.03 | Non-synonymous, synonymous | NA |
Personal Genome Diagnostics | PGDx elio tissue complete | 507 | 2.20 | 1.33 | Non-synonymous, synonymous | Wood et al 45 |
QIAGEN | QIAseq TMB panel | 486 | 1.33 | 1.33 | Non-synonymous, synonymous | NA |
Thermo Fisher Scientific | Oncomine Tumor Mutation Load Assay | 409 | 1.70 | 1.20 | Non-synonymous | Chaudhary et al 46 Endris et al 35 |
*Coding region used to estimate TMB regardless of the size of the region assessed by the panel.
†Non-synonymous mutations include single nucleotide variants, splice-site variants and short insertions and deletions (indels).
‡FoundationOne CDx assay has been approved by the US FDA as an IVD.31
§GuardantOMNI is a plasma-based circulating tumor DNA assay.
¶MSK-IMPACT assay has been authorized by the US FDA32
NA, not available.