Glucosylsphingosine

Diagnostic Use

For diagnosis Gaucher Disease ONLY.

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

Department

Specialist Biochemistry

Delphic Registration Code

GSPH

Synonyms

Gaucher Disease testing
Glucocerebrosidase marker

Turnaround Time

6 weeks

Test Code

5560

Specimen Type

• Serum
• Plasma

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred if West Coast

• SST II (Gold Cap)

Acceptable

• Serum (Red Cap)
• SST II (Gold Cap)
• Lithium Heparin - Non-gel (Green Cap)
• Lithium Heparin - Gel (Light Green Cap)

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Acceptable

• Serum (Red Cap)
• SST II (Gold Cap)
• Lithium Heparin - Non-gel (Green Cap)
• Lithium Heparin - Gel (Light Green Cap)

Preferred Sample Volume (ml)

0.2

Aliquot Instructions

Additional Referral/Aliquot Information

Aliquot Instructions: 500uL EDTA plasma frozen.
Aliquot Transport to CHL: frozen for plasma

Test Method

Mass Spectrometry

Non-Funded Test Cost

$385.65 (Exclusive of GST)

Billing Code

5560

Referred to SA Pathology Women's and Children's Hospital Adelaide

Contact Information

Enquiry Form