TruSight Oncology 500 ctDNA
(TSO500 ctDNA)
The TSO500 ctDNA employs a hybrid capture-based approach targeting 523 clinically relevant genes and leverages unique molecular indices to enable ultra-low frequency detection of SNVs, Indels, and CNVs
TruSight Oncology 500 ctDNA
(TSO500 ctDNA)
The TSO500 ctDNA employs a hybrid capture-based approach targeting 523 clinically relevant genes and leverages unique molecular indices to enable ultra-low frequency detection of SNVs, Indels, and CNVs
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This comprehensive cancer panel interrogates relevant cancer biomarkers with as little as 20-30 ng of cfDNA and demonstrates robust analytical performance. In addition to variant calls, the assay reports a tumor mutational burden (TMB) score and microsatellite instability (MSI) status. Available now as an RUO offering at our genomics center of excellence in North Carolina, USA.
Highlights
- Reportable biomarkers: SNVs, Indels, CNVs, MSI, and TMB
- Sample types: Streck whole blood, Streck & EDTA plasma, cfDNA
- Pre-analytical QC incudes Fragment Analysis Quantification
- Detection of variants down to 0.5% VAF
- Sensitivity of SNVs at 92.87% and Indels at 96.34%
- PPV of SNVs at 99.84% and Indels at 99.99%
Reproducible Variant Calling
TMB Methodology
Enhanced algorithm to robustly call TMB from cfDNA. Reports include a synonymous and non- synonymous score using eligible variants that meet the following criteria:
- Variants in the coding region (RefSeq Cds)
- Variants not in low confidence regions (black list)
- Variant Frequency ≥ Minimum reporting TMB threshold
- Coverage ≥ 1000
- SNVs and Indels (MNVs excluded)
- Nonsynonymous and synonymous variants
- Variants with cosmic count > 50 excluded
- Exclude clonal hematopoiesis driver genes
- Exclude variants with VAF > 40%
TSO500 ctDNA Specifications
| Sample Types | Plasma (EDTA, Streck or purified circulating-free nucleic acids) |
| Sample Recommendations | > 3 mL plasma (minimum 2 mL plasma) Double-spun EDTA within 4 hr of collection OR Streck cfDNA BCT extends stability window to 6 days @ RT |
| Input Requirements | 20-30 ng cfDNA (as quantified using Fragment Analyzer) |
| Sequencing Platform | NovaSeq 6000 |
| Read Depth | > 400 M PE Reads; 150bp PE |
| Software Analysis | Illumina’s Early Access TSO500 Plasma pipeline for ctDNA analysis |
| Deliverables | QC Report, VCFs (SNVs and Indels), CNVs, MSI and TMB scores BAMs can be made available upon request for additional fee |
