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Test Code GPSYW Glucopsychosine, Blood


Ordering Guidance


This test is also available as a part of panel; see HSMWB / Hepatosplenomegaly Panel, Blood. If this test (GPSYW) is ordered with either CTXWB / Cerebrotendinous Xanthomatosis, Blood or OXYWB / Oxysterols, Blood, the individual tests will be canceled and HSMWB ordered.



Specimen Required


Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Green top (sodium heparin, lithium heparin) or yellow top (ACD B)

Specimen Volume: 1 mL

Collection Instructions: Send whole blood in original vial. Do not aliquot.


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.

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 whole blood specimens

 

Supporting the biochemical diagnosis of Gaucher disease

 

Monitoring a patient's response to treatment

 

This test is not useful for identifying carriers of GBA1 variants.

Reporting Name

Glucopsychosine, B

Specimen Type

Whole blood

Specimen Minimum Volume

0.25 mL

Specimen Stability Information

Specimen Type Temperature Time
Whole blood Refrigerated (preferred) 72 hours
  Ambient  48 hours

Reject Due To

Gross hemolysis OK
Gross lipemia OK
Gross icterus OK

Reference Values

Cutoff: ≤0.040 nmol/mL

Day(s) Performed

Tuesday

Report Available

3 to 9 days

Specimen Retention Time

Whole blood: 7 days; Dried blood spot: Normal results: 2 months; Abnormal results: Indefinitely

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82542

LOINC Code Information

Test ID Test Order Name Order LOINC Value
GPSYW Glucopsychosine, B 92751-7

 

Result ID Test Result Name Result LOINC Value
BA4357 Interpretation (GPSYW) 59462-2
BA4356 Glucopsychosine 92751-7
BA4358 Reviewed By 18771-6

Genetics Test Information

Gaucher disease is an autosomal recessive lysosomal storage disorder caused by deficient beta-glucosidase activity.

 

There are 3 described types of Gaucher disease with varying clinical presentations generally distinguished based on whether there is central nervous system involvement.

 

Glucopsychosine (glucosylsphingosine: lyso-GL1) is elevated in symptomatic patients and supports a diagnosis of Gaucher disease.

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)