Table 3.
Metrics | TruSight One panel | CMP and reflex | Hypertrophic cardiomyopathy | Dilated cardiomyopathy/left ventricular non-compaction | Arrhythmogenic right ventricular cardiomyopathy | Marfan syndrome/Loeys–Dietz syndrome | Thoracic aortic aneurysms and dissections and reflex |
---|---|---|---|---|---|---|---|
Analytical sensitivity | N/Aa | 1.00 ± 0.00 | 1.00 ± 0.00 | 1.00 ± 0.00 | 1.00 ± 0.00 | N/Aa | 1.00 ± 0.00 |
Analytical specificity | N/Aa | 0.99 ± 0.00 | 1.00 ± 0.00 | 0.99 ± 0.00 | 1.00 ± 0.00 | N/Aa | 1.00 ± 0.00 |
False negative (FN) SNP rate | N/Aa | 0.00 ± 0.00 | 0.00 ± 0.00 | 0.00 ± 0.00 | 0.00 ± 0.00 | N/Aa | 0.00 ± 0.00 |
False positive (FP) SNP rate | N/Aa | 0.01 ± 0.00 | 0.00 ± 0.00 | 0.01 ± 0.00 | 0.00 ± 0.00 | N/Aa | 0.00 ± 0.00 |
aMeasurements not calculated for the designated panels (no BigDye sequencing performed).