Table 6. Limits of detection of a subset of clinically-actionable alterations in which 940 tests were performed and 46 unique variants were analyzed.
Gene | Alteration Sub-Type | Median LoD |
---|---|---|
ATM | Indels | 0.51% VAF |
ATM-EXPH5 Truncationa | 1.13% VAF | |
BRAF | Substitutions | 0.33% VAF |
BRCA1 | Indels | 0.38% VAF |
Substitutions | 0.34% VAF | |
Rearrangementa | 0.87% VAF | |
BRCA2 | Indels | 0.36% VAF |
BRCA2- EDA Truncationa | 0.48% VAF | |
Copy Number Loss | 48.1% TF | |
EGFR | Indels (exon 19 deletions) | 0.27% VAF |
Substitutions (L858R substitutions) | 0.34% VAF | |
KRAS | Substitutions | 0.33% VAF |
MET | Indels | 0.41% VAF |
NRAS | Substitutions | 0.42% VAF |
PALB2 | Indels | 0.37% VAF |
Substitutions | 0.51% VAF | |
PIK3CA | Substitutions | 0.34% VAF |
ALK | ALK-EML4 Rearrangement | 0.24% VAF |
NPM1-ALK Rearrangement | 0.94% VAF | |
NRTK1 | NTRK1-TPM3 Rearrangement | 0.44% VAF |
NTRK3 | NTRK3-ETV6 Rearrangement | 0.27% VAF |
RET | RET-CCDC6 Rearrangement | 0.20% VAF |
ROS1 | ROS1-GOPC Rearrangement | 0.75% VAF |
ROS1-SLC34A2 Rearrangement | 0.28% VAF | |
ERBB2 | Copy Number Amplification | 19.8% TF |
PTEN | Copy Number Loss | 12.7% TF |
TF = tumor fraction; VAF = variant allele fraction.