Test Id : GBAW
Beta-Glucosidase, Leukocytes
Useful For
Suggests clinical disorders or settings where the test may be helpful
Diagnosis of Gaucher disease
This test is not intended for carrier detection.
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
This test provides diagnostic testing for patients with clinical signs and symptoms suspicious for Gaucher disease.
Enzyme testing is included in the diagnostic workup for infants following a positive newborn screen result for Gaucher disease.
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
For additional 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
Flow Injection Analysis-Tandem Mass Spectrometry
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
Acid Beta-Glucosidase
Beta-Glucosidase
Gaucher's Disease
GBA Deficiency
GD 1
Glucocerebrosidase
Glucocerebrosidase Deficiency
Glucosidase, Beta
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
For additional 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 ACD
Ordering Guidance
This test is preferred for diagnostic testing but does not reliably detect carriers. For carrier detection, order GBAZ / Gaucher Disease, Full Gene Analysis, Varies or CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies (specify GBA Gene List ID IEMCP-M4F13T). Call 800-533-1710 to discuss testing options.
Shipping Instructions
For optimal isolation of leukocytes, it is recommended the specimen arrive refrigerated within 6 days of collection to be stabilized. Collect specimen Monday through Thursday only and not the day before a holiday. Specimen should be collected and packaged as close to shipping time as possible.
Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
Container/Tube:
Preferred: Yellow top (ACD solution B)
Acceptable: Yellow top (ACD solution A) or lavender top (EDTA)
Specimen Volume: 6 mL
Collection Instructions: Send specimen in whole blood original tube. Do not aliquot.
Special Instructions
Library of PDFs including pertinent information and forms related to the test
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Biochemical Genetics Patient Information (T602)
3. 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.
2 mL
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
| Gross hemolysis | 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 ACD | Refrigerated (preferred) | 6 days | |
| Ambient | 6 days |
Useful For
Suggests clinical disorders or settings where the test may be helpful
Diagnosis of Gaucher disease
This test is not intended for carrier detection.
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
This test provides diagnostic testing for patients with clinical signs and symptoms suspicious for Gaucher disease.
Enzyme testing is included in the diagnostic workup for infants following a positive newborn screen result for Gaucher disease.
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
For additional 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 reduced or absent acid beta-glucosidase (glucocerebrosidase) enzyme activity resulting in accumulation of glucosylceramide (glucocerebroside) and glucopsychosine (glucosylsphingosine) in the lysosomes. This interferes with the normal functioning of cells and leads to clinical abnormalities characteristic of the disease.
While clinical features and severity of symptoms are widely variable within Gaucher disease, common features include abnormal blood parameters such as decreased red blood cells (anemia) and/or platelets (thrombocytopenia), bone disease, and hepatosplenomegaly. Three clinical subtypes have been identified based on the presence and progression of central nervous system (CNS) involvement. Type 1 is the most common type, representing 95% of all cases, and is generally characterized by bone disease, hepatosplenomegaly, anemia and thrombocytopenia, coagulation abnormalities, lung disease, and no CNS involvement. Type 2 or acute neuronopathic (GD2), typically has a very severe progression with onset in the first 2 years of life including neurologic disease, hepatosplenomegaly, and lung disease, with death usually between 2 and 4 years due to lung failure. Individuals with type 3 or chronic neuronopathic (GD3) may have onset prior to 2 years of age, but the progression is not as severe, and they may survive into the third and fourth decade. Finally, within the spectrum, there is 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, and corneal opacities.
Treatment is available in the form of enzyme replacement therapy (ERT), substrate reduction therapy, and chaperone therapy for types 1 and 3. Individuals with type 3 may benefit from bone marrow transplantation. Currently, only supportive therapy is available for type 2. Emerging therapies currently listed at Clinicaltrials.gov include gene therapy and in utero ERT.
The incidence of type 1 ranges from 1 in 20,000 to 200,000 in the general population, but it is much more frequent among Ashkenazi Jewish population with an incidence between 1 in 400 and 900. Types 2 and 3 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. Significantly reduced or absent enzyme activity of acid beta-glucosidase along with elevation of the biomarker, glucopsychosine (GPSY / Glucopsychosine, Blood Spot; GPSYP / Glucopsychosine, Plasma; GPSYW / Glucopsychosine, Blood) is diagnostic. Molecular analysis of the GBA gene allows for detection of disease-causing variants in affected patients (GBAZ / Gaucher Disease, Full Gene Analysis, Varies or CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies [specify GBA Gene List ID IEMCP-M4F13T]).
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.
> or =3.53 nmol/hour/mg protein
An interpretative report will be provided.
Note: Results from this assay do not reflect carrier status because of individual variation of beta-glucosidase enzyme levels.
Interpretation
Provides information to assist in interpretation of the test results
Individuals affected with Gaucher disease will have enzyme levels less than 3.53 nmol/h/mg protein. In our experience some carriers will also have less than 3.53 nmol/h/mg protein activity.
Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
Enzyme levels may be normal in individuals receiving enzyme replacement therapy.
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 June 10, 2024. Available at www.acmg.net/PDFLibrary/Gaucher.pdf
2. Martins AM, Valadares ER, Porta G, et al: Recommendations on diagnosis, treatment, and monitoring for Gaucher disease. J Pediatr. 2009 Oct;155(4 Suppl):S10-S18
3. Daykin EC, Ryan E, Sidransky E: Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes. Mol Genet Metab. 2021 Feb;132(2):49-58. doi: 10.1016/j.ymgme.2021.01.002
4. 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 March 1, 2022. Available at www.ncbi.nlm.nih.gov/books/NBK1269/
5. Weinreb NJ, Andersson HC, Banikazemi M, et al: Prevalence of type 1 Gaucher disease in the United States. Arch Intern Med. 2008 Feb;168:326-328
6. Elliott S, Buroker N, Cournoyer JJ, et al: Pilot study of newborn screening for six lysosomal storage diseases using tandem mass spectrometry. Mol Genet Metab. 2016 Aug;118(4):304-309
Method Description
Describes how the test is performed and provides a method-specific reference
The specimens are incubated with a mix of substrate and internal standard for acid sphingomyelinase, beta-glucocerebrosidase, acid alpha-glucosidase, alpha-galactosidase, galactocerebrosidase and alpha-L-iduronidase. The sample is then purified by liquid-liquid extraction. The extract is evaporated and reconstituted before analysis by tandem mass spectrometry.(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.
Preanalytical processing: Monday through Saturday
Testing performed: Monday, Wednesday
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.
82963
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 |
|---|---|---|
| GBAW | Beta-Glucosidase, Leukocytes | 32540-7 |
| 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.
|
|---|---|---|
| 606273 | Beta-Glucosidase, Leukocytes | 32540-7 |
| 606274 | Interpretation | 59462-2 |
| 606275 | Reviewed By | 18771-6 |