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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


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


Specimen Minimum Volume

0.25 mL

Specimen Stability Information

Specimen Type Temperature Time
Plasma Frozen 65 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)

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, Thursday

Report Available

3 to 7 days

Reporting Name

Glucopsychosine, P

Reference Values

GLUCOPSYCHOSINE

Cutoff: ≤0.003 nmol/mL

Method Name

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

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82542