Glucopsychosine, BS - Clinical Genetic Test - GTR

Genetic Testing Registry

View Advanced Search Options

Classic view of this page

Glucopsychosine, BS

Clinical Genetic Test

offered by

Mayo Clinic Laboratories

View lab's test page

GTR Test Accession: GTR000597418.2

INHERITED DISEASEOPHTHALMOLOGYMETABOLIC DISEASE ... View more

Last updated in GTR: 2022-04-19

Last annual review date for the lab: 2024-05-28

At a Glance

Test purpose:

Diagnosis; Monitoring

Conditions (1):

Gaucher disease

Analytes (1):

Glucopsychosine

Methods (1):

Biochemical Genetics - Analyte: Liquid chromatography-tandem mass spectrometry (LC-MS/MS)

Target population:

Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) …

Clinical validity:

Not provided

Clinical utility:

Establish or confirm diagnosis; Guidance for management

Ordering Information

Offered by:

Mayo Clinic Laboratories
View lab's website
View lab's test page

Test short name:

GPSY

Specimen Source:

Dried blood spot (DBS) card
View specimen requirements

Who can order:

Genetic Counselor
Health Care Provider
Licensed Dentist
Licensed Physician
Nurse Practitioner
Physician Assistant
Public Health Mandate
Registered Nurse

Test Order Code:

GPSY
View other test codes

LOINC codes:

**LOINC codes notice

Lab contact:

Gisele (Gessi) Bentz Pino, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
biochemicalgenetics@mayo.edu
1-800-533-1710

Contact Policy:

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:

https://www.mayocliniclabs.com/test-catalog/Specimen/62236
Order URL

Test development:

Test developed by laboratory (no manufacturer test name)

Informed consent required:

Based on applicable state law

Pre-test genetic counseling required:

Decline to answer

Post-test genetic counseling required:

Decline to answer

Recommended fields not provided:

Test strategy

Conditions

Total conditions: 1

Condition/Phenotype	Identifier

Test Targets

Analytes

Total analytes: 1

Analyte	Associated Condition

Methodology

Total methods: 1

Method Category

Test method

Instrument *

Analyte

Liquid chromatography-tandem mass spectrometry (LC-MS/MS)

* Instrument: Not provided

Clinical Information

Test purpose:

Diagnosis; Monitoring

Clinical utility:

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:

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:

Clinical validity, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report

Technical Information

Test Procedure:

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:

Tests performed
Entire test performed in-house

Analytical Validity:

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:

Some patients with Gaucher disease may have normal concentrations of glucopsychosine (lyso-GL1).

Proficiency testing (PT):

Is proficiency testing performed for this test?
Yes

Method used for proficiency testing:
Formal PT program

PT Provider:
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:
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:

Test Confirmation, Citations to support assay limitations, Citations to support internal test validation method, Citations for Analytical validity, Major CAP category, CAP category, CAP test list

Regulatory Approval

FDA Review:

Category: FDA exercises enforcement discretion

Additional Information

Reviews:

Genereviews

PubMed Clinical Queries

Clinical resources:

Molecular resources:

View GBA1 variations in ClinVar

Practice guidelines:

Consumer resources:

MedlinePlusGenetics (GHR)

NCATS Office of Rare Diseases Research (GARD)

MedlinePlus

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.