Lyso-globotriaosyl-ceramide

Fabry disease (Lyso-GB3)

Chemical Pathology - Enzyme

For monitoring Fabry disease

1. 5 - 10 mL lithium heparin whole blood or

2. Minimum 0.5 mL plasma

Measured in a research laboratory in Institute of Child Health, UCL.

1. Send whole blood at ambient temperature to reach lab ideally within 24 hours of collection

2. Freeze plasma immediately. Send frozen. Do NOT allow to thaw. Send to reach lab within 24 hours of collection

1. 6 - 8 weeks

2. 6 - 8 weeks

Fabry disease

1. No

2. No