Austin Pathology

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Glucocerebrosidase (Blood)

Alternate Names
Gaucher's Disease
Test Code
MISCSO
Testing Laboratory
Referred Laboratory
Specimen Type

Blood

Container Type

9 mL EDTA (Purple Top)

Container Image
Medicare Rebate

No - please complete Patient Financial Consent Form.pdf

Out of Pocket Costs

Please note: This service is not Medicare rebatable and patients may be charged. Out of Pocket cost - $423.00

Fee above is an indication only; please contact testing laboratory for up-to-date cost.

Ordering Information

This test is performed only as a confirmatory test after elevated glucosylsphingosine result.

This test is not covered by the Genzyme DBS kit.

Collection Instructions

This test is time criticalSpecimen must ONLY be collected on TUESDAY AFTERNOONS in order to reach the referral laboratory within the required timeframe (48 hours).

Blood collected on other days may attract additional costs for interstate transportation or require a recollection.

Transport Instructions
Transport ambient at room temperature
Send to the laboratory as soon as possible
Storage Instructions
Store ambient at room temperature
Testing Frequency
Fortnightly
Min Test Volume
3mL
Add On Test Suitability

Add ons for this test cannot be performed.

Container ID
EWP, EW, CR
CSR Instructions

Instructions for: Heidelberg Specimen Reception 

  • Place sample in Room Temperature Sendout tub.  
Laboratory Instructions
None
External Laboratory
Biochemical Genetics, National Referral Laboratory, Adelaide Women & Children's Hospital
Accredited Test
Yes