Sign in →

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


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


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 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

Plasma

Specimen Minimum Volume

0.25 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Plasma Frozen 65 days

Reference Values

GLUCOPSYCHOSINE

Cutoff: ≤0.003 nmol/mL

Interpretation

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

Clinical Reference

1. 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/

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

3. 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

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

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

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

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. 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