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HelpTest Code GBAW Beta-Glucosidase, Leukocytes
Reporting Name
Beta-Glucosidase, LeukocytesPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Useful For
Diagnosis of Gaucher disease
This test is not intended for carrier detection.
Method Name
Flow Injection Analysis-Tandem Mass Spectrometry
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
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.
Specimen Type
Whole Blood ACDSpecimen Minimum Volume
2 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole Blood ACD | Refrigerated (preferred) | 6 days | |
| Ambient | 6 days |
Reject Due To
| Gross hemolysis | Reject |
Reference Values
≥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
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.
Day(s) Performed
Preanalytical processing: Monday through Saturday
Testing performed: Monday, Wednesday
Report Available
5 to 9 daysTest Classification
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
82963
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| GBAW | Beta-Glucosidase, Leukocytes | 32540-7 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 606273 | Beta-Glucosidase, Leukocytes | 32540-7 |
| 606274 | Interpretation | 59462-2 |
| 606275 | Reviewed By | 18771-6 |
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.
Testing Algorithm
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)