β-Galactosidase Deficiency, Leukocytes
Also known as: Galactosialidosis, MPS IVb, Morquio B Disease
Use
Diagnose patients with β-galactosidase deficiency, Morquio disease type B (MPS IVb), and combined β-galactosidase/neuraminidase deficiency (galactosialidosis)
Special Instructions
Not provided.
Limitations
The test specifically determines affected status and does not assign carrier status. It does not rule out Morquio disease type A (MPS IVa), which must be diagnosed through alternative methods. The integrity of the sample is crucial, as incorrect specimen collection, gross hemolysis, or deterioration due to late arrival may result in rejection.
Methodology
Other
Biomarkers
Beta-Galactosidase activity
Analyte
LOINC Codes
- 24061-4 - B-Galactosidase WBC-cCnt
- 24061-4 - B-Galactosidase WBC-cCnt
Result Turnaround Time
4-14 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
10 mL
Minimum Volume
5 mL
Container
Yellow-top (ACD) tube
Collection Instructions
Refrigerate after collection. Transport to the testing lab using cool pack or LabCorp transport kit. Do not allow the sample to freeze. Sample must arrive in the laboratory within four days of collection.
Storage Instructions
Refrigerate.
Causes for Rejection
Quantity not sufficient for analysis; specimen frozen; specimen not received within four days of collection; incorrect specimen collection tube; gross hemolysis; unable to isolate white blood cells
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 4 days |
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