Validation

FFPE | NGS ASSAY TECHNICAL SPECIFICATIONS

The depth of coverage is 150x for tumor and 100x for normal sample. The assay is analytically and clinically validated for tumor content of at least 20%, with performance characteristics shown below.Performance characteristics of somatic alteration detection (WES generated from FFPE samples)
ACCURACYSENSITIVITYSPECIFICITYLIMIT OF DETECTION
1*BostonGene only reports small indels (<50 bp) **The list of HotSpot SNV/Indel is available upon request
Single Nucleotide Variants (SNV)99.9%98.4%99.9%≥5% VAF and / or ≥20% purity
HotSpot SNV/Indel**>99.99%96%>99.99%≥ 2% VAF
Insertions and Deletions (Indels)*99.9%96.1%99.9%≥10% VAF and / or ≥20% purity
Copy Number Alterations >1 fold90.5%86.3%94.8%≥30% purity
Copy Number Alterations >2 fold95.2%96.8%95.0%≥20% purity
Performance characteristics of TMB (WES generated from FFPE samples)
ACCURACYPRECISION (CV)LIMIT OF DETECTION
Tumor mutational burden99%1.4%≥20% purity
Performance characteristics of MSI (WES generated from FFPE samples)
ACCURACYPRECISIONLIMIT OF DETECTION
Microsatellite instability status100%100%≥20% purity
Performance characteristics of fusion detection (RNAseq generated from FFPE samples)
ACCURACYSENSITIVITYSPECIFICITYLIMIT OF DETECTION
Fusions (Exome-enriched from FFPE)>99%98%>99%≥0.1 FFPM (fusion fragments per million)
Performance characteristics of gene expression evaluation (RNAseq generated from FFPE)
TYPEACCURACYPRECISION (CV)LIMIT OF DETECTION
Gene expressions (Exome-enriched)>90%<6.6% for transcripts <3.7% for genes≥ 1.0 TPM (transcripts per million)