Table 2.

Genetic site information and enzyme activity in the screening experiment in confirmed cases.

Number	Disease	Enzyme	Genetic results	Screening result
1	Fabry	GLA	c.1019G > C	0.3 (2.54)
2	Fabry	GLA	c.1286–7del	2.12 (2.74)
3	Fabry	GLA	c.454T > C	0.48 (2.56)
4	Pompe	GAA	c.859-2A > T c.2065G > A	0.42 (1,73)
5	Pompe	GAA	c.752C > T c.761C > T	0.61 (1.92)
6	Pompe	GAA	c.752–761delins c.1757C > T	0.4 (1.72)
7	Krabbe	GALC	c.1901T > C c.2041G > A	0.33 (0.93)
8	Krabbe	GALC	c.1901T > C c.1901T > C	0.52 (0.92)
9	Krabbe	GALC	c.1901T > C c.1901T > C	0.45 (0.87)
10	Krabbe	GALC	c.1204G > A c.1535G > T	0.21 (0.7)
11	Krabbe	GALC	c.1901T > C c.1671–14G > A	0.35 (0.61)

In the “screening result” column, the parentheses are cutoff values for the batch of experiments.