Monitoring patients with Fabry Disease.
The first tier test for initial diagnosis for all Fabry requests is alpha galactosidase activity.
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.
Specialist Biochemistry
SENB
LysoCTH
6 weeks