Glucopsychosine, BS
GTR Test Accession: Help GTR000597418.2
INHERITED DISEASEOPHTHALMOLOGYMETABOLIC DISEASE ... View more
Last updated in GTR: 2022-04-19
Last annual review date for the lab: 2023-05-30 LinkOut
At a Glance
Diagnosis; Monitoring
Gaucher disease
Glucopsychosine
Biochemical Genetics - Analyte: Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) …
Not provided
Establish or confirm diagnosis; Guidance for management
Ordering Information
Offered by: Help
Test short name: Help
GPSY
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Lab contact: Help
Gisele (Gessi) Bentz Pino, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
biochemicalgenetics@mayo.edu
1-800-533-1710
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
https://www.mayocliniclabs.com/test-catalog/Specimen/62236
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 1
Analyte Associated Condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Analyte
Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Monitoring
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Murugesan V, Chuang WL, Liu J, Lischuk A, Kacena K, Lin H, Pastores GM, Yang R, Keutzer J, Zhang K, Mistry PK. Glucosylsphingosine is a key biomarker of Gaucher disease. Am J Hematol. 2016;91(11):1082-1089. doi:10.1002/ajh.24491. Epub 2016 Aug 08. PMID: 27441734.

Guidance for management
View citations (1)
  • 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. doi:10.1002/jimd.12192. Epub 2019 Nov 26. PMID: 31707742.

Target population: Help
Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified   Diagnosis and monitoring of patients with Gaucher disease
View citations (3)
  • Murugesan V, Chuang WL, Liu J, Lischuk A, Kacena K, Lin H, Pastores GM, Yang R, Keutzer J, Zhang K, Mistry PK. Glucosylsphingosine is a key biomarker of Gaucher disease. Am J Hematol. 2016;91(11):1082-1089. doi:10.1002/ajh.24491. Epub 2016 Aug 08. PMID: 27441734.
  • Arkadir D, Dinur T, Revel-Vilk S, Becker Cohen M, Cozma C, Hovakimyan M, Eichler S, Rolfs A, Zimran A. Glucosylsphingosine is a reliable response biomarker in Gaucher disease. Am J Hematol. 2018;93(6):E140-E142. doi:10.1002/ajh.25074. Epub 2018 Mar 15. PMID: 29473199.
  • 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. doi:10.1002/jimd.12192. Epub 2019 Nov 26. PMID: 31707742.
Recommended fields not provided:
Technical Information
Test Procedure: Help
A 3-mm dried blood spot is extracted with internal standard. The extract is subjected to liquid chromatography-tandem mass spectrometry (LC-MS/MS) analysis. The MS/MS is operated in the multiple reaction monitoring (MRM) positive mode to follow the precursor to product species transitions for each analyte and internal standard. The ratio of … View more
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Recovery was used to assess accuracy; mean recovery was 90%. Intra assay precision was performed at 2 levels: CV results 3% and 3% (N=20 each). Inter assay precision was performed at 2 levels: CV results 3% and 3% (N=20 each).The lower and upper limits of quantification are 0.003 µM and … View more
Assay limitations: Help
Some patients with Gaucher disease may have normal concentrations of glucopsychosine (lyso-GL1).
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
European Research Network for the Evaluation and Improvement of Screening Diagnosis and Treatment of Inherited Metabolic Disorders - External Quality Assessment Schemes, ERNDIM EQAS

Description of PT method: Help
Formal PT program

Description of internal test validation method: Help
This test was laboratory developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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