Test Code GPSYP Glucopsychosine, Plasma
Ordering Guidance
This test is also available as a part of a panel; see HSMP / Hepatosplenomegaly Panel, Plasma. If this test (GPSYP) is ordered with either CTXP / Cerebrotendinous Xanthomatosis, Plasma or OXNP / Oxysterols, Plasma, the individual tests will be canceled and HSMP ordered.
Specimen Required
Collection Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Green top (sodium heparin, lithium heparin), yellow top (ACD B)
Submission Container/Tube: Plastic vial
Specimen Volume: 0.3 mL
Collection Instructions:
1. Centrifuge at 4° C, if possible
2. Aliquot plasma into plastic vial. Do not disturb or transfer the buffy coat layer.
3. Send frozen
Specimen Minimum Volume
0.25 mL
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Plasma | Frozen | 65 days |
Useful For
Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified
Diagnosis and monitoring of patients with Gaucher disease using plasma specimens
Supporting a biochemical diagnosis of Gaucher disease
Monitoring a patient's response to treatment
This test is not useful for identifying carriers of GBA variants.
Reject Due To
Gross hemolysis | OK |
Gross lipemia | OK |
Gross icterus | OK |
Day(s) Performed
Tuesday, ThursdayReport Available
3 to 7 daysReporting Name
Glucopsychosine, PReference Values
GLUCOPSYCHOSINE
Cutoff: ≤0.003 nmol/mL
Method Name
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)Performing Laboratory
Mayo Clinic Laboratories in RochesterCPT Code Information
82542