Mucopolysaccharidoses, Nine-Enzyme Panel, Leukocytes
Use
The mucopolysaccharidoses (MPS) are a group of disorders caused by a deficiency of any of the enzymes involved in the stepwise degradation of glycosaminoglycans (GAG). This enzyme panel supports the biochemical diagnosis of mucopolysaccharidoses types II, IIIA, IIIB, IIIC, IIID, IVA, IVB, VI, and VII, and of multiple sulfatase deficiency. The test aids in screening individuals with clinical signs and symptoms suspicious for these conditions. If an enzyme deficiency is detected, additional biochemical or molecular testing is required to confirm a diagnosis.
Special Instructions
Collect specimen Monday through Thursday only and not the day before a holiday. Ensure that the specimen arrives refrigerated within 6 days of collection for optimal leukocyte isolation. Necessary information includes patient's age and reason for testing.
Limitations
The test is not useful for carrier detection and abnormal results are not sufficient to establish a diagnosis of a particular disease. Additional biochemical or molecular genetic analyses are required for verification. Enzyme levels may appear normal in individuals receiving enzyme replacement therapy or who have undergone hematopoietic stem cell transplant. Mucolipidosis II may not be detectable, and pseudodeficiencies can result in reduced enzyme activity.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
LOINC Codes
- 104072-4
- 24089-5
- 24086-1
- 24092-9
- 24044-0
- 24098-6
- 24096-0
- 24061-4
- 24094-5
- 24065-5
Result Turnaround Time
8-15 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)
Collection Instructions
Send whole blood specimen in original tube. Do not aliquot.
Storage Instructions
Refrigerated (preferred) or ambient for 6 days.
Causes for Rejection
Gross hemolysis
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 6 days |
| Refrigerated | 6 days |