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Test ID 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


1. Biochemical Genetics Patient Information (T602)

2. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.

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.

Method Name

Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)

Reporting Name

Glucopsychosine, P

Specimen Type


Specimen Minimum Volume

0.25 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Plasma Frozen 65 days

Reference Values


Cutoff: ≤0.003 nmol/mL

Day(s) Performed

Tuesday, Thursday

Report Available

3 to 7 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information


LOINC Code Information

Test ID Test Order Name Order LOINC Value
GPSYP Glucopsychosine, P 92750-9


Result ID Test Result Name Result LOINC Value
BA4375 Interpretation (GPSYP) 59462-2
BA4373 Glucopsychosine 92750-9
BA4374 Reviewed By 18771-6