Rapid and Inexpensive Screening of Genomic Copy Number Variations Using a Novel Quantitative Fluorescent PCR Method

Table 3

Sensitivity and specificity of MQF-PCR tests in detection of WAGR, Smith-Magenis, Potocki-Lupski and simulated Xp22.3 microdeletion syndromes.

Syndrome	Probability estimate (95% confidence interval)
	True positive	False positive	True negative	False negative
WAGR	100% (66–100%)	0% (0–7%)	100% (93–100%)	0% (0–34%)
Smith-Magenis	100% (72–100%)	0% (0–7%)	100% (93–100%)	0% (0–28%)
Potocki-Lupski	100% (29–100%)	0% (0–7%)	100% (93–100%)	0% (0–71%)
Xp22.3	100% (93–100%)	0% (0–7%)	100% (93–100%)	0% (0–7%)