Test Catalog

Test Id : GPSY

Glucopsychosine, Blood Spot

Useful For
Suggests clinical disorders or settings where the test may be helpful

Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified

 

Diagnosis and monitoring of patients with Gaucher disease using dried blood spot specimens

 

Monitoring a patient's response to treatment

 

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

Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request

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
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Name
A short description of the method used to perform the test

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

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

Glucopsychosine, BS

Aliases
Lists additional common names for a test, as an aid in searching

Glucopsychosine

Glucosylsphingosine

Gaucher disease

Lyso-GL1

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Specimen Type
Describes the specimen type validated for testing

Whole blood

Ordering Guidance

This test is available separately as well as a part of HSMBS / Hepatosplenomegaly Panel, Blood Spot. If this test is ordered with either CTXBS / Cerebrotendinous Xanthomatosis, Blood Spot or OXYBS / Oxysterols, Blood Spot, the individual tests will be canceled and HSMBS ordered.

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

Supplies:

-Card-Blood Spot Collection (Filter Paper) (T493)

-Card-Postmortem Screening (Filter Paper) (T525)

Collection Container/Tube:

Preferred: Blood Spot Collection (Filter Paper)

Acceptable: Whatman Protein Saver 903 filter paper, PerkinElmer 226 (formerly Ahlstrom 226) filter paper, Munktell filter paper, Postmortem Screening card, or collected with heparin or EDTA containing

Specimen Volume: 2 Blood spots

Collection Instructions:

1. Let blood dry completely on filter paper at ambient temperature in a horizontal position for a minimum of 3 hours.

2. At least 1 spot should be complete, (ie, unpunched)

3. Do not expose specimen to heat or direct sunlight.

4. Do not stack wet specimens.

5. Keep specimen dry.

Additional Information:

1. For collection instructions, see Blood Spot Collection Instructions

2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777)

3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800)

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Forms

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

Blood spot: 1

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

Blood spot showing serum rings Insufficient specimen Layering Multiple applications Reject

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen Type Temperature Time Special Container
Whole blood Refrigerated (preferred) 10 days FILTER PAPER
Frozen 59 days FILTER PAPER
Ambient 10 days FILTER PAPER

Useful For
Suggests clinical disorders or settings where the test may be helpful

Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified

 

Diagnosis and monitoring of patients with Gaucher disease using dried blood spot specimens

 

Monitoring a patient's response to treatment

 

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

Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request

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
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Gaucher disease is an autosomal recessive lysosomal storage disorder caused by a deficiency of the enzyme, beta-glucosidase, which facilitates the lysosomal degradation of glucosylceramide (glucocerebroside) and glucopsychosine (glucosylsphingosine: lyso-GL1). Gaucher disease is caused by variants in the GBA gene. There are 3 described types of Gaucher disease with varying clinical presentations and age of onset from a perinatal lethal disorder to a mildly symptomatic type. Features of all types of Gaucher disease include hepatosplenomegaly and hematological abnormalities.

 

Gaucher disease type I is the most common form, representing more than 90% of cases. It is generally characterized by bone disease, hepatosplenomegaly, anemia and thrombocytopenia, coagulation abnormalities, lung disease, but no central nervous system involvement. Gaucher disease types II and III are characterized by the presence of primary neurologic disease. In addition, Type II typically presents with limited psychomotor development, hepatosplenomegaly, and lung disease, resulting in death usually between 2 and 4 years of age. Individuals with Gaucher disease type III may present prior to 2 years of age, but the progression is not as rapid, and patients may survive into the third and fourth decade. Further subtypes of Gaucher disease include a perinatal lethal form associated with skin abnormalities and nonimmune hydrops fetalis, and a cardiovascular form presenting with calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and gaze impairment.

 

Treatment is available in the form of enzyme replacement therapy or substrate reduction therapy for types I and III. These treatment options have generally made bone marrow transplantation obsolete. Currently, only supportive therapy is available for type II because of the inability of enzyme provided by replacement therapy to cross the blood-brain barrier.

 

The incidence of Gaucher disease type I ranges from 1 in 30,000 to 1 in 100,000 in the general population but is much more frequent among Ashkenazi Jews with an incidence of approximately 1 in 900. Types II and III both have an incidence of approximately 1 in 100,000 in the general population.

 

A diagnostic workup for Gaucher disease may demonstrate the characteristic finding of Gaucher cells on bone marrow examination, other hematologic abnormalities, and hepatosplenomegaly. The diagnosis can be confirmed by the demonstration of reduced or absent acid beta-glucosidase activity in leukocytes (GBAW / Beta-Glucosidase, Leukocytes) or dried blood spots (PLSD / Lysosomal and Peroxisomal Storage Disorders Screen, Blood Spot) and molecular genetic analysis of the GBA gene (GAUP / Gaucher Disease, Mutation Analysis, GBA, Varies; or GBAZ / Gaucher Disease, Full Gene Analysis, Varies). Lyso GL-1 is a sensitive and specific biomarker for Gaucher disease, and an elevation of lyso GL-1 in blood supports the diagnosis. Lyso GL-1 has also been shown to be helpful in monitoring mildly symptomatic individuals for disease progression and in determining treatment response.

Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

Cutoff: < or =0.040 nmol/mL

Interpretation
Provides information to assist in interpretation of the test results

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

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

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

Clinical Reference
Recommendations for in-depth reading of a clinical nature

1. Pastores GM, Hughes DA: Gaucher disease. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2000. Updated June 21, 2018. Accessed September 28, 2020. 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 Apr;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 February 4, 2021. Available at https://ommbid.mhmedical.com/content.aspx?sectionid=225546056&bookid=2709

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

5. Arkadir D, Dinur T, Revel-Vilk S, et al: Glucosylsphingosine is a reliable response biomarker in Gaucher disease. Am J Hematol. 2018 Jun;93(6):E140-E142. doi: 10.1002/ajh.25074 

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

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Description
Describes how the test is performed and provides a method-specific reference

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 positive mode to follow the precursor to product species transitions for each analyte and internal standard. The ratio of the extracted peak areas to internal standard is determined by LC-MS/MS is used to calculate the concentration of in the sample.(Unpublished Mayo method)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Tuesday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

2 to 9 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

Normal results: 2 months;, Abnormal results: Indefinitely

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.

Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

82542

LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

Test Id Test Order Name Order LOINC Value
GPSY Glucopsychosine, BS 92752-5
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
62236 Glucopsychosine 92752-5
36344 Reviewed By 18771-6
36345 Interpretation (GPSY) 59462-2

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports