Mucopolysaccharidosis IV Enzyme Panel, Leukocytes
Use
This test supports the biochemical diagnosis of mucopolysaccharidosis type IVA and IVB in whole blood specimens. Mucopolysaccharidosis type IVA (Morquio A syndrome) is caused by reduced or absent N-acetylgalactosamine-6-sulfate sulfatase (GALNS) enzyme activity, leading to accumulation of glycosaminoglycans in tissues. Mucopolysaccharidosis type IVB (Morquio syndrome B) involves reduced beta-galactosidase activity, causing systemic skeletal disorders. The test aids in assessing diseases characterized by these enzyme deficiencies. Additional biochemical or molecular testing is required to confirm a diagnosis if enzyme deficiency is detected.
Special Instructions
Not provided.
Limitations
This test is not useful for carrier detection. Individuals with pseudodeficiency alleles or those receiving enzyme replacement therapy may show reduced enzyme activity. Beta-galactosidase is also reduced in patients with galactosialidosis, and such patients need follow-up testing for neuraminidase, which this panel does not evaluate. Carrier status cannot be reliably detected, and enzyme levels may be normal in patients undergoing hematopoietic stem cell transplant.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
Beta-galactosidase
AnalyteN-acetylgalactosamine-6-sulfatase
Analyte
LOINC Codes
- 104072-4 - MPS enzymes pnl WBC
- 42349-1
- 24096-0 - GALNS WBC-cCnt
- 24061-4 - B-Galactosidase WBC-cCnt
- 59462-2 - Clinical biochemist review
- 18771-6 - Provider signing name
Result Turnaround Time
3-9 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
6 mL
Minimum Volume
5 mL
Container
Yellow top (ACD solution B preferred; ACD solution A or lavender top (EDTA) acceptable)
Collection Instructions
Send whole blood specimen in original tube. Do not aliquot.
Storage Instructions
Refrigerated preferred, stable for 6 days.
Causes for Rejection
Gross hemolysis
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 6 days |
| Refrigerated | 6 days |