Table 3. Analytical sensitivity and specificity for each gene in our gene panels.

Panel	Gene	Sensitivity	Specificity
A	GLA	100% (10/10)	100% (1398/1398)
	NAGA	100% (3/3)	100% (1381/1381)
	GAA	100% (12/12)	99.89% (2987/2990)
	LAMP2	n.d*	100% (1707/1707)
B	NPC1	100% (8/8)	100% (4265/4265)
	NPC2	100% (1/1)	100% (5521/5521)
	GBA1	83.3% (5/6)	100% (1875/1875)
	LIPA	100% (4/4)	100% (1462/1462)
	SMPD1	91.7% (11/12)	99.8% (2775/2780)
	CHIT1	100% (1/1)	100% (1936/1936)
	PSAP	n.d*	100% (2184/2184)

n.d*: not determined because there were no positive controls with variant pathogenic in this gene.