Fabry screen

Referred to Willink Laboratory, Regional Genetics Laboratory Services, St Mary's Hospital, Manchester M13 9WL
 

Alternative names, keywords

alpha-galactosidase

Samples required

EDTA blood (purple cap/ yellow cap ring, 4 mL tube) for blood spot preparation in lab, or dried blood spots.

Test indications

Screening test for Fabry disease.

Reference range

Blood spot alpha galactosidase: 6.3 - 47 pmol/punch/h
Blood spot alpha glucosidase (reference enzyme): 7.3 - 39 pmol/punch/h

Turnaround time

Referral lab quotes turnaround time of 4 weeks, however additional time must be allowed for packing, dispatch and delivery of sample, and return and processing of results.

Enquiries

Biochemistry (Referrals)