Mucopolysaccharidosis III, Four-Enzyme Panel, Leukocytes
Use
This test supports the biochemical diagnosis of mucopolysaccharidoses types IIIA, IIIB, IIIC, and IIID. It evaluates individuals with clinical signs and symptoms of mucopolysaccharidosis, and if deficiencies in enzyme activities are identified, it suggests additional biochemical or molecular testing for confirmation. The test is essential for diagnosing Mucopolysaccharidosis III (Sanfilippo syndrome), characterized by severe central nervous system degeneration with mild physical symptoms.
Special Instructions
Not provided.
Limitations
The test isn't useful for carrier detection. Additional biochemical or molecular genetic analyses are recommended to verify preliminary diagnoses. The test cannot reliably detect carrier status. Enzyme levels might be normal in patients undergoing enzyme replacement therapy or after a hematopoietic stem cell transplant. Pseudodeficiency alleles can result in reduced enzyme activity without pathological significance.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
LOINC Codes
- 104072-4 - MPS enzymes pnl WBC
- 24086-1 - Heparan-N-Sulfatase WBC-cCnt
- 24092-9 - A-NAG WBC-cCnt
- 24044-0 - AcCoA:Glucosamine AT WBC-cCnt
- 24098-6 - NAG6Sulfatase 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
For optimal isolation of leukocytes, it is recommended the specimen arrive refrigerated within 6 days of collection to be stabilized.
Causes for Rejection
Gross hemolysis
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 6 days |
| Refrigerated | 6 days |