Table 1

Description of the 11 participating diagnostic NGS panels

LaboratoryPanel name# genesTotal region covered (Mb)TMB region covered* (Mb)Type of exonic mutations included in TMB estimationPublished performance characteristics
ACT GenomicsACTOnco+4401.81.12Non-synonymous†, synonymousNA
AstraZenecaAZ6006071.721.72Non-synonymous, synonymousNA
CarisSureSelect XT5921.601.40Non-synonymousVanderwalde et al 40
Foundation MedicineFoundationOne CDx‡3242.200.80Non-synonymous, synonymousFrampton et al 41
Chalmers et al 25
Fabrizio et al 42
Guardant HealthGuardantOMNI§5002.151.00Non-synonymous, synonymousQuinn et al 43
IlluminaTSO500 (TruSight Oncology 500)5231.971.33Non-synonymous, synonymousNA
Memorial Sloan Kettering Cancer CenterMSK-IMPACT¶4681.531.14Non-synonymousCheng et al,44 Zehir et al,30 US FDA32
NeoGenomicsNeoTYPE Discovery Profile for Solid Tumors3721.101.03Non-synonymous, synonymousNA
Personal Genome DiagnosticsPGDx elio tissue complete5072.201.33Non-synonymous, synonymousWood et al 45
QIAGENQIAseq TMB panel4861.331.33Non-synonymous, synonymousNA
Thermo Fisher ScientificOncomine Tumor Mutation Load Assay4091.701.20Non-synonymousChaudhary 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.