Test Code BGA Beta-Galactosidase, Leukocytes
Performing Laboratory
Mayo Clinic Laboratories in RochesterReporting Name
Beta-Galactosidase, LeukocytesSpecimen Type
Whole Blood ACDShipping 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.
Necessary Information
Provide a reason for referral with each specimen.
Specimen Required
Container/Tube:
Preferred: Yellow top (ACD solution B)
Acceptable: Yellow top (ACD solution A)
Specimen Volume: 6 mL
Collection Instructions: Send specimen in original tube. Do not aliquot.
Reject Due To
Gross hemolysis | Reject |
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Whole Blood ACD | Refrigerated (preferred) | 6 days | YELLOW TOP/ACD |
Ambient | 6 days | YELLOW TOP/ACD |
Specimen Minimum Volume
5 mL
Special Instructions
Day(s) Performed
Preanalytical processing: Monday through Sunday
Assay performed: Tuesday
Specimen Retention Time
WBC homogenate: 1 monthReport Available
2 to 8 daysReference Values
≥1.56 nmol/min/mg
Useful For
Aiding in the diagnosis of GM1 gangliosidosis, Morquio B disease, and galactosialidosis
This test is not suitable for carrier detection.
Testing Algorithm
See Lysosomal Storage Disorders Diagnostic Algorithm, Part 1
CPT Code Information
82657
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
BGA | Beta-Galactosidase, Leukocytes | 24061-4 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
8486 | Beta-Galactosidase, Leukocytes | 24061-4 |
34979 | Interpretation (BGA) | 59462-2 |
34907 | Reviewed By | 18771-6 |
Genetics Test Information
Beta-galactosidase enzyme is deficient in the following conditions: GM1 gangliosidosis, Morquio syndrome B, and galactosialidosis.
Careful review of clinical findings will help distinguish between GM1 gangliosidosis and Morquio syndrome type B.
A diagnosis of galactosialidosis must be additionally demonstrated by a deficiency of neuraminidase.
Disease States
- Galactosialidosis
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.