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Fabry Disease
Short Description : Fabry Disease [Dried Blood Spot]

Guthrie Card
Test performed by: LabPLUS Newborn Screening


The reference interval will be provided with the result.

Specimen Collection
Guthrie Card Whole Blood (Preferred)

One spot on a Guthrie card (newborn screening card) is sufficient. Please air dry at least 2hrs before sending.


EDTA4 mL EDTA Whole Blood

Whole blood EDTA sample must arrive at LabPlus within 24hrs of collection and Mon 0800 to Fri lunchtime.

Mark parcel as urgent.

LabPlus - please deliver whole blood EDTA urgently to Biochemical Genetics for spotting on to card.


Turnaround Time: Between 5 weeks and 8 weeks
Diagnostic Use and Interpretation

Used for diagnosis of Fabry's disease.


Contact Information

For further information contact laboratory: ext 22016 or via Lablink.

or, contact the Metabolic Physician-on-call:  09 367 0000


Specimen Transport Instructions for Referring Laboratories

Collect One Full Spot on Guthrie card.

Dry card at least 2 hours at room temperature before placing in plastic specimen bag along with a copy of request form .

Transport to LabPlus at either Room Temperature, Chilled or Frozen.


Alternatively collect EDTA whole blood and transport to LabPlus within 24hrs of collection and Mon 0800 to Fri lunchtime. Mark parcel for urgent handling at LabPlus.

LabPlus: Forward urgently to Biochemical Genetics for spotting blood on to card.



Last updated at 17:04:18 07/04/2019