Diagnostic Services for Fabry Disease

A complete diagnostic program
From enzymatic to biomarker testing including genetic testing from the same Dried Blood Spot.

Fabry Disease Diagnostics

Available enzymatic and biomarker tests:

Disease Enzyme Biomarker
Fabry α-Galactosidase A Lyso-GL-3 (Lyso-Gb3)

Important: Direct genetic testing for women with affected family member(s) is mandatory, independent of symptomatic stage.

Available genetic test:

Disease Gene
Fabry GLA