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

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

Further samples will be requested if indicated.

Females*:
   Blood spot galactosidase: > 2.8 µmol/L/h
   Blood spot lyso GB3 (reference enzyme): 0 - 3.5 ng/mL

*referred by referral lab to Archimed Life, Vienna, Austria

Note change to female alpha-galactosidease cut off from 8 May 2018

 

If further testing (genetic) is indicated, informed consent is required.

Turnaround time

Referral lab quotes turnaround time of 1 working week, however additional time must be allowed for packing, dispatch and delivery of sample, and return and processing of results.

Enquiries

Biochemistry (Referrals)