Mucopolysaccharidosis IV Enzyme Panel, Blood Spot
Use
This test is used for supporting the biochemical diagnosis of mucopolysaccharidosis type IVA and IVB. It aids in diagnosing individuals with clinical signs and symptoms suggestive of these conditions. If an enzyme deficiency is detected by this screening test, additional biochemical or molecular testing is required to confirm a diagnosis. The test is not useful for carrier detection.
Special Instructions
Not provided.
Limitations
The test does not reliably detect carrier status (heterozygosity). Enzyme levels may be normal in individuals receiving enzyme replacement therapy or those who have had a hematopoietic stem cell transplant. Beta-galactosidase activities are also reduced in patients with galactosialidosis, which is not evaluated in this panel. Individuals with pseudodeficiency alleles can exhibit reduced enzyme activity.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
Beta-galactosidase
AnalyteN-acetylgalactosamine-6-sulfatase
Analyte
LOINC Codes
- 104112-8 - Mucopolysaccharidosis DBS-cCnc
- 42349-1
- 88019-5 - GALNS DBS-cCnc
- 55916-1 - B-Galactosidase DBS-cCnc
- 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
Dried Blood Spot
Volume
Not provided
Minimum Volume
1
Container
Blood Spot Collection Card
Collection Instructions
At least 2 blood spots must be complete. Let the blood dry on the filter paper horizontally at room temperature for at least 3 hours. Don't expose specimens to heat or direct sunlight and don't stack wet specimens. Keep specimens dry.
Causes for Rejection
Blood spot specimen that shows serum rings or has multiple layers, insufficient specimen, unapproved filter papers.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 7 days |
| Refrigerated | 60 days |
| Frozen | 60 days |