Test Id : GPSYW
Glucopsychosine, Blood
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 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 GBA1 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.
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)
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.
Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test
Aliases
Lists additional common names for a test, as an aid in searching
Gaucher disease
Glucopsychosine
Glucosylsphingosine
Lyso-GL1
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
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)
Specimen Type
Describes the specimen type validated for testing
Whole 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
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
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.
Special Instructions
Library of PDFs including pertinent information and forms related to the test
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.
Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the testing laboratory. The minimum volume is sufficient for one attempt at testing.
0.25 mL
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
| Gross hemolysis | OK |
| Gross lipemia | OK |
| Gross icterus | OK |
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) | 72 hours | |
| Ambient | 48 hours |
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 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 GBA1 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.
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)
Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Gaucher disease (GD) 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 disease-causing variants in the GBA1 gene and presents with a markedly variable phenotype, ranging from a perinatal lethal disorder to mildly symptomatic. It has historically been categorized into 3 types (GD1, GD2 and GD3) based on the presence and progression of neuropathic features. 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, although in practice, assigning a type in infancy can sometimes be challenging due to overlapping clinical features. 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. Additional 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 (ERT) and substrate reduction therapy (SRT) for types I and III. Some patients with chronic and progressive neurologic symptoms despite ERT or SRT may be candidates for bone marrow transplant or a multifaceted approach. 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 GD is variable, with a higher occurrence in populations with known founder variants such as the Ashkenazi Jewish population.
A diagnostic workup for GD 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 Disorders Screen, Blood Spot) and molecular genetic analysis of the GBA1 gene (GBA / Gaucher Disease, GBA1 Gene Sequencing with Deletion/Duplication, 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. Newborn Screening ACT Sheet [Decreased beta-glucocerebrosidase] Gaucher Disease. American College of Medical Genetics and Genomics; 2022. Revised March 2022. Accessed November 14, 2024. Available at www.acmg.net/PDFLibrary/Gaucher.pdf
2. Hughes DA, Pastores GM. Gaucher Disease. In: Adam MP, Feldman J, Mirzaa GM, et al. eds. GeneReviews. [Internet]. University of Washington, Seattle; 2000. Updated December 7, 2023. Accessed November 14, 2024. Available at www.ncbi.nlm.nih.gov/books/NBK1269/
3. Kishnani PS, Al-Hertani W, Balwani M, et al. Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus. Mol Genet Metab. 2022;135(2):154-162. doi:10.1016/j.ymgme.2021.12.009
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 November 14, 2024. 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;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;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;132(2):49-58. doi:10.1016/j.ymgme.2021.01.002
Method Description
Describes how the test is performed and provides a method-specific reference
Whole blood is spotted on filter paper and dried overnight. 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 determined by the 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
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.
Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location
Indicates the location of the laboratory that performs the test
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 account representative. 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. It 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.
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 |
|---|---|---|
| GPSYW | Glucopsychosine, B | 92751-7 |
| 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.
|
|---|---|---|
| BA4357 | Interpretation (GPSYW) | 59462-2 |
| BA4356 | Glucopsychosine | 92751-7 |
| BA4358 | Reviewed By | 18771-6 |