Alpha Galactosidase

Pathology category

Biochemistry - referred tests

Code

AGAL

Referral code

Request form

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

Guidelines

Pre-analytical

Method requires extraction of white cells

Reference range

Leucocytes a-galactosidase: 18.6 -82.0 nmol/h/mg protein

Tube type

Tube type info

Li Hep (or EDTA)

Special requirements

Fresh Whole blood (within 48h collection)

Minimum volume

5-10mL

Assay frequency

TAT Inpatient (urgent)

TAT Inpatient

4 weeks

TAT GP/Outpatient

4 weeks

Referral lab

Depts of Blood Sciences and Metabolic Biochemistry, Birmingham Children's Hospital