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Test Code GPSYP Glucopsychosine, Plasma

Reporting Name

Glucopsychosine, P

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)

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

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


Supplies: Sarstedt Aliquot Tube, 5 mL (T914)

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


Reject Due To

Gross hemolysis OK
Gross lipemia OK
Gross icterus OK

Specimen Minimum Volume

0.25 mL

Specimen Stability Information

Specimen Type Temperature Time
Plasma Frozen 65 days

Reference Values

GLUCOPSYCHOSINE

Cutoff: ≤0.003 nmol/mL

Day(s) Performed

Tuesday, Thursday

Test Classification

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

CPT Code Information

82542

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

Forms

1. Biochemical Genetics Patient Information (T602)

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

Secondary ID

65632

Report Available

3 to 7 days

Testing Algorithm

For more information see Newborn Screen Follow-up for Gaucher Disease.

 

If the patient has abnormal newborn screening results for Gaucher disease, refer to the appropriate American College of Medical Genetics and Genomics Newborn Screening ACT Sheet.(1)