Table 1.

Validation against samples with known SMN1/SMN2 copy numbers (CNs).

	CN by orthogonal method	Total	Concordant	Discordant	Agreement
SMN1	0	64	64	0	100.0%
	1	45	44	1	97.8%
	2	897	897	0	100.0%
	3	174	174	0	100.0%
	4	43	43	0	100.0%
	6	1	0	1	0.0%
	Total	1224	1222	2	99.8%
SMN2	0	117	117	0	100.0%
	1	466	465	1	99.8%
	2	541	539	2	99.6%
	3	60	60	0	100.0%
	4	9	8	1	88.9%
	Total	1193	1189	4	99.7%
SMN2∆7–8	0	1089	1089	0	100.0%
	1	80	80	0	100.0%
	2	4	4	0	100.0%
	Total	1173	1173	0	100.0%