The first tier test for initial diagnosis for all Fabry requests is alpha galactosidase activity. State clearly on form: for enzymatic diagnosis of Fabry's Disease (attention Chris Leaver)
Some female heterozygotes may have normal but low alpha-galactosidase A activity. In this case recommend clinical correlation and testing plasma Lyso-GB3 as a second tier test before proceeding with molecular analysis.
For GLA mutation analysis also collect EDTA
Specialist Biochemistry
AGAL
Ambient (preferred) 90 days, refrigerated 90 days, frozen 90 days
A-galactosidase
alpha-galactosidase A
Fabrys Disease
Galactosidase
8 weeks
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