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.
If overnight - Frozen
Referred to SA Pathology, Adelaide Women's and Children's Hospital
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