Mucopolysaccharidosis, Blood Spot
Use
This test is useful for supporting the biochemical diagnosis of mucopolysaccharidoses types I, II, III, IV, or VI. It involves the quantification of heparan sulfate, dermatan sulfate, and keratan sulfate in dried blood spot specimens, which are markers for a subset of mucopolysaccharidoses. These disorders are characterized by the accumulation of undegraded glycosaminoglycans (GAGs) leading to progressive cellular dysfunction.
Special Instructions
Not provided.
Limitations
Administration of heparin before specimen collection may interfere with this assay. Blood spots showing serum rings or that have been formed by multiple layer applications are subject for rejection. Sample must be kept dry and not exposed to heat or direct sunlight. Interpretation of results should consider potential interferences and limitations inherent to the biochemical assay.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
Dermatan Sulfate
AnalyteHeparan Sulfate
AnalyteKeratan Sulfate
Analyte
LOINC Codes
- 94586-5 - MPS panel DBS
- 90233-8 - Dermatan Sulfate DBS-sCnc
- 90235-3 - Heparan sulfate DBS-sCnc
- 59462-2 - Clinical biochemist review
- 18771-6 - Provider signing name
- 90236-1 - Keratan Sulfate DBS-sCnc
Result Turnaround Time
3-7 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
2 Blood spots
Minimum Volume
Not provided
Container
Blood Spot Collection Card
Collection Instructions
1. Do not collect specimen from a line used to infuse or flushed with heparin. 2. Alternative option is a fingerstick for patients older than 1 year. 3. Fill at least 2 circles on the filter paper card. 4. Dry blood at ambient temperature for a minimum of 3 hours. 5. Do not expose specimen to heat or direct sunlight.
Patient Preparation
For 6 hours before specimen collection, patient should not receive heparin.
Storage Instructions
Keep specimen dry. Do not stack wet specimens.
Causes for Rejection
Blood spot specimen that shows serum rings or has multiple layers/applications; Insufficient specimen
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 100 days |
| Refrigerated | 100 days |
| Frozen | 100 days |