Table 3 Assessment of Prenetics hereditary cancer panel test performance in detection and interpretation of single nucleotide variants and small insertions/deletions
From: Development and validation of next generation sequencing based 35-gene hereditary cancer panel
Specimen | Total Variants | True Positives | False Positives | False Negatives | Sensitivity | Specificity |
|---|---|---|---|---|---|---|
Cohort I: blinded group (n = 94) | 4758 | 4758 | 0 | 6 | 99.9% | 100%a |
Cohort II: positive reference samples (n = 53) | 62 | 62 | 0 | 0 | 100.0% | 100%a |
TOTAL | 4820 | 4820 | 0 | 6 | 99.9% | 100%a |