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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 GBA variants.

Method Name

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

Reporting Name

Glucopsychosine, B

Specimen Type

Whole blood

Specimen Minimum Volume

0.25 mL

Specimen Stability Information

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

Reference Values

Cutoff: ≤0.040 nmol/mL

Interpretation

An elevation of glucopsychosine (glucosylsphingosine: lyso-GL1) is indicative of Gaucher disease.

Clinical Reference

1. Newborn Screening ACT Sheet [Decreased beta-glucocerebrosidase] Gaucher Disease. American College of Medical Genetics and Genomics; 2022. Revised March 2022. Accessed June 10, 2024. Available at www.acmg.net/PDFLibrary/Gaucher.pdf

2.Pastores GM, Hughes DA: Gaucher disease. In: Adam MP, Everman DB, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2000. Updated June 21, 2018. Accessed December 28, 2022. Available at www.ncbi.nlm.nih.gov/books/NBK1269/

3. Kaplan P, Baris H, De Meirleir L, et al: Revised recommendations for the management of Gaucher disease in children. Eur J Pediatr. 2013 Apr;172(4):447-458

4. Grabowski GA, Petsko GA, Kolodny EH: : Gaucher disease. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill Education; 2019. Accessed December 28, 2022. Available at https://ommbid.mhmedical.com/content.aspx?sectionid=225546056&bookid=2709

5. Murugesan V, Chuan WL, Liu J, et al: Glucosylsphingosine is a key biomarker of Gaucher disease. Am J Hematol. 2016 Nov;91(11)1082-1089

6. Saville JT, McDermott BK, Chin SJ, Fletcher JM, Fuller M: Expanding the clinical utility of glucosylsphingosine for Gaucher disease. J Inherit Metab Dis. 2020 May;43(3):558-563

7. Daykin EC, Ryan E, Sidransky E: Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes. Mol Genet Metab. 2021 Feb;132(2):49-58. doi:10.1016/j.ymgme.2021.01.002

Day(s) Performed

Tuesday

Report Available

3 to 9 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. 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
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

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)