Glucosyl Sphingosine (Blood)

Referring Laboratory

LabPLUS SCP Biochemical Genetics

Testing Laboratory

SA Pathology Women's and Children's Hospital, Adelaide

Department

Chemical Pathology

Delphic Registration Code (Alpha Code)

BGA

Test Code (Numeric Code)

6290

Synonyms

Glucosylsphingosine, Gaucher disease testing, Glucocerebrosidase marker

Specimen Type

• Plasma
• Whole Blood

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Acceptable

• Please refer to Additional Information below
• Lithium Heparin - Non-gel (Green Cap)
• Lithium Heparin PST- Gel (Light Green Cap)
• Plain (Red Top)
• SST II (Gold Cap)

Preferred Sample Volume (ml)

4

Minimum Sample Volume (ml)

1

PLASMA: Centrifuge and separate plasma. Store and transport frozen.

DBS: One full spot of whole blood on Guthrie card. Dry card at least 2 hours at room temperature. Or collect EDTA whole blood, transport to LabPLUS within 24hrs of collection and Mon 0800 to Fri midday. Mark parcel for urgent handling at LabPLUS.

For the diagnosis of Gaucher Disease.

The NZ Gaucher Treatment Panel no longer recommend this for monitoring enzyme replacement therapy.
Is also available as part of the Leucocyte Lysosomal Enzyme Studies testing.

Turnaround Time: Between 6 to 8 weeks.

Contact Information