NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Diagnosis of Gaucher disease
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
Preferred specimen for diagnostic testing. Not recommended for carrier detection; instead order GAUW/81235 Gaucher Disease, Mutation Analysis, GBA.
Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Specimen Type Describes the specimen type needed for testing
Whole Blood ACD
Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.
Specimen must arrive within 48 hours of draw to be stabilized. Draw specimen Monday through Thursday only and not the day before a holiday. Specimen should be drawn and packaged as close to shipping time as possible.
Preferred: Yellow top (ACD solution B)
Acceptable: Yellow top (ACD solution A)
Specimen Volume: 6 mL
Collection Instructions: Do not transfer blood to other containers.
Forms: If not ordering electronically, submit a Biochemical Genetics Request Form (Supply T439) with the specimen.
Specimen Minimum Volume Defines the amount of specimen required to perform an assay once, including instrument and container dead space. Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.
Mild OK; Gross reject
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
|Whole Blood ACD||Refrigerated (preferred)||48 hours|
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 reduced or absent acid beta-glucosidase (glucocerebrosidase) enzyme activity. Absent or reduced activity of this enzyme results in accumulation of undigested materials (primarily in the lysosomes) and interferes with the normal functioning of cells.
Clinical features and severity of symptoms are widely variable within Gaucher disease, but in general, the disorder is characterized by bone disease, hepatosplenomegaly, and may have central nervous system (CNS) involvement. There are 3 clinical subtypes of the disorder that vary with respect to age of onset and clinical presentation. 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 typically has a very severe progression with onset prior to 2 years, with neurologic disease, hepatosplenomegaly, and lung disease, with death usually between 2 and 4 years due to lung failure. Individuals with type 3 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. In addition, 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.
The incidence of type 1 ranges from 1 in 20,000 to 1 in 200,000 in the general population, but is much more frequent among Ashkenazi Jews with an incidence between 1 in 400 and 1 in 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. Reduced or absent enzyme activity of acid beta-glucosidase in leukocytes, blood spots, or fibroblasts can confirm a diagnosis. A targeted mutation panel may allow for detection of disease-causing mutations in affected patients (GAUW/81235 Gaucher Disease, Mutation Analysis, GBA). In addition, full sequencing of the GBA gene allows for detection of disease-causing mutations in affected patients in whom a targeted mutation panel identifies only a single mutation.
Treatment is available in the form of enzyme replacement therapy and substrate reduction 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.
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.
0.08-0.35 U/10(10) cells
Note: Results from this assay do not reflect carrier status because of individual variation of beta-glucosidase enzyme levels. For carrier testing, order molecular test GAUW/81235 Gaucher Disease, Mutation Analysis, GBA.
Values <0.05 U/10(10) cells are consistent with a diagnosis of Gaucher disease.
All values below the normal reference range (<0.08 U/10) cells will be repeated.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
Carrier testing using this assay is not reliable. Use molecular test GAUW/81235 Gaucher Disease, Mutation Analysis, GBA for this purpose.
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
1. Martins AM, Ribeiro Valadares E, Porta G, et al: Recommendations on diagnosis, treatment, and monitoring for Gaucher disease. J Pediatr 2009 Oct;155(4 Suppl):S10-S18
2. Beulter E, Grabowski GA: Gaucher disease. In The Metabolic and Molecular Basis of Inherited Disease. Vol 3. Eighth edition. Edited by CR Scriver, AL Beaudet, WS Sly, D Valle. New York, McGraw-Hill, 2001, pp 3635-3656
3. Pastores GM, Hughes DA: Gaucher disease. In.GeneReviews. Seattle, WA. University of Washington, Seattle. 1993-. Edited by RA Pagon TD Bird, CR Dolan, et al: 2000 Jul 27 [Updated 2011 Jul 21]. Available from URL: http://www.ncbi.nlm.nih.gov/books/NBK1269/
Method Description Describes how the test is performed and provides a method-specific reference
Incubation of 4-methylumbelliferyl beta-D-glucopyranoside with leukocyte or fibroblast homogenates produces 4-methylumbelliferone in the presence of this enzyme, which is measured fluorometrically. (Chiao YB, Glew RH, Diven WF, Lee RE: Comparison of various beta-glucosidase assays used to diagnose Gaucher's disease. Clin Chim Acta 1980;105:41-50; Raghaven SS, Topol J, Kolodny EH: Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease. Am J Hum Genet 1980;32:158-173)
Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.
Specimens are processed Monday through Sunday.
Assay is performed on Wednesday.
Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.
Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result
Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
WBC homogenate stored 1 month
Performing Laboratory Location The location of the laboratory that performs the test
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's instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR), Investigation Use Only (IUO) product, or a Research Use Only (RUO) 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 U.S. 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 Medical Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
LOINC® Code Information Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the result codes returned for this test or profile.
|Result ID||Reporting Name||LOINC Code|
|2293||B-Glucosid in Cells||32540-7|