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Go to http://testguide.adhb.govt.nz/EGuide/ for more information.

Specimen Collection

Test performed by: LabPLUS Support Services transport this to a 3rd party for testing

4 mL EDTA Blood
4 mL Heparin Blood
Reference Intervals

Reference interval will be provided with results

Turnaround Time: Between 6 weeks and 10 weeks
Assay Method
Diagnostic Use and Interpretation

Please request dried blood spot alpha-galactosidase for first line screening for Fabry. This test is sometimes used to confirm the diagnosis of Fabry disease. Some female heterozygotes may have normal but low alpha-galactosidase A activity. In this case recommend clinical correlation and testing plasma Lyso-GB3 as a second tier test before proceeding with molecular analysis.

Contact Information

For further information contact laboratory: ext 22016 or via Lablink.
or, Metabolic Physician on-call: 09 367 0000

Specimen Transport Instructions for Referring Laboratories

Separate 0.2mL minimum EDTA or Heparin plasma (1mL preferred). Store in freezer 36 in the Biochemical Genetics allocated tray. Sample is sent by Biochemical Genetics to Adelaide Women's & Children's Hospital, Australia

Last updated at 09:24:40 30/01/2024