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Glucosylsphingosine


Blood
Test performed by: LabPLUS Biochemical Genetics


Specimen Collection
EDTA4 mL EDTA Blood
Heparin4 mL Heparin Blood
Plain4 mL Plain Blood
Reference Intervals

The reference interval will be provided with the result.



Turnaround Time: Between 3 weeks and 9 weeks
Assay Method

Specimen sent by BG to Adelaide Women's and Children's for analysis.


Diagnostic Use and Interpretation

For diagnosis of Gaucher Disease ONLY.

 

The NZ Gaucher Treatment panel no longer recommend this for monitoring enzyme replacement therapy.



 

Is also available as part of the 'White Cell Enzymes Pane'

White Cell Enzyme


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

Plasma: Plain, Heparin or EDTA plasma. Separate and freeze at least 0.2mL plasma/serum. Send frozen to LabPlus.

 

DBS: One full spot of whole blood on Guthrie card. Dry card at least 2 hours at room temperature.

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

 

Alternatively

Collect EDTA whole blood:   Transport to LabPlus within 24hrs of collection and Mon 0800 to Fri mid-day . Mark parcel for urgent handling at LabPlus.



Last updated at 12:03:26 24/09/2020