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Test
Alpha Galactosidase
Category
Clinical Biochemistry
Code
AGAL
Test information
Requested in the investigation of young stroke. Deficiency in the alpha-galactosidase enzyme results in Fabry disease, however enzyme replacement is now available. X-linked, but female carriers can show symptoms. Manifests in adolescence to adulthood
Pre-analytical
Method requires extraction of white cells
Reference range
Leucocytes a-galactosidase: 18.6 -82.0 nmol/h/mg protein
Special requirements
Fresh Whole blood (within 48h collection)
Tube type
Li Hep (or EDTA)
Minimum volume
5-10mL
TAT Inpatient
4 weeks
TAT GP/Outpatient
4 weeks
Referral lab
Depts of Blood Sciences and Metabolic Biochemistry, Birmingham Children's Hospital
Page last updated: 11 January 2022
