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
guthrie card
Specimen Requirements
Tube/Container Type:
Preferred
EDTA (Lavender Cap)
please_refer_to_additional_requiremets
Acceptable
Serum (Red Cap)
SST II (Gold Cap)
Lithium Heparin - Non-gel (Green Cap)
Lithium Heparin - Gel (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 (Green Cap)
Preferred Sample Volume (ml)
0.2
Additional Specimen Information
dried blood spot on Guthrie card dried at room temperature also accepted.
Aliquot Instructions
Additional Referral/Aliquot Information
Aliquot Instructions: 500uL EDTA plasma frozen. or 100 µL whole blood spotted and dried room temperature on Guthrie card
Aliquot Transport to CHL: frozen for plasma
Test Method
Mass Spectrometry
Non-Funded Test Cost
$363.82 (Exclusive of GST)
Billing Code
5560
Referred to SA Pathology Women's and Children's Hospital Adelaide
