Table 5. Performance of Counsyl Inherited Cancer Screen for copy number variants.

Counsyl ICS	MLPA reference data		Results (95% confidence interval)
	CNV present	CNV not present
CNV detected	79 true positives	0 false positives	100% accuracy (0.999–1.0) 100% sensitivity (0.951–1.0)
CNV not detected	0 false negatives	3,067 true negatives	100% specificity (0.999–1.0) 0% FDR (0–4.6%)

Notes.

Only reference data with full copy number assessment of the BRCA1/2 genes were included. Validation metrics were defined as: Accuracy = (TP + TN)/(TP + FP + TN + FN); Sensitivity = TP/(TP + FN); Specificity = TN/(TN + FP); FDR = FP/(TP + FP). True positives and true negatives were computed on a per-exon basis.