Home
HelpTest ID GBAW Beta-Glucosidase, Leukocytes
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.
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.
Useful For
Diagnosis of Gaucher disease
This test is not intended for carrier detection.
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)
Special Instructions
Method Name
Flow Injection Analysis-Tandem Mass Spectrometry
Reporting Name
Beta-Glucosidase, LeukocytesSpecimen 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 |
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.
Day(s) Performed
Preanalytical processing: Monday through Saturday
Testing performed: Monday, Wednesday
Report Available
5 to 9 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test 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 |