Mucopolysaccharidoses, Eight-Enzyme Panel, Blood Spot
Use
This test supports the biochemical diagnosis of mucopolysaccharidoses types II, IIIA, IIIB, IIIC, IVA, IVB, VI, and VII, along with multiple sulfatase deficiency. It is a screening panel for individuals displaying clinical signs and symptoms suspicious of these conditions. However, it is not useful for carrier detection. If an enzyme deficiency is detected, additional biochemical or molecular testing is advised to confirm a diagnosis.
Special Instructions
Due to analytic issues, this test will be temporarily unavailable starting February 28, 2025, with the duration currently unknown. Patients may need to consider alternative tests such as I2SB, MPS3B, MPS4B, ARSBB, GUSBB, MSDBS, or NCLBS.
Limitations
Test results are not sufficient to establish a definitive diagnosis of a particular disease. Additional biochemical or molecular genetic analyses are required to verify any preliminary diagnosis. Enzyme levels might be normal in patients receiving enzyme replacement therapy or those who have undergone hematopoietic stem cell transplant. Carrier status for these conditions cannot be reliably detected using this assay. The enzyme N-acetylglucosamine 6-sulfatase for MPSIIID is not evaluated on this panel.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
LOINC Codes
- 104112-8
- 79462-8
- 104113-6
- 104114-4
- 104115-1
- 88019-5
- 55916-1
- 55912-0
- 79457-8
- 59462-2
Result Turnaround Time
8-15 days
Related Documents
For more information, please review the documents below
Specimen
Dried Blood Spot
Volume
Not provided
Minimum Volume
1 Blood spot
Container
Blood Spot Collection Card
Collection Instructions
1. An alternative blood collection option for patients one year of age or older is a fingerstick. 2. At least 2 blood spots should be complete (unpunched). 3. Let blood dry on filter paper at room temperature horizontally for a minimum of 3 hours. 4. Do not expose specimen to heat or direct sunlight. Keep dry. 5. Do not stack wet specimens.
Storage Instructions
Refrigerated (preferred) 60 days, Ambient 7 days, Frozen 60 days
Causes for Rejection
Blood spot specimen that shows serum rings or has multiple layers, insufficient specimen, non-approved filter papers
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 7 days |
| Refrigerated | 60 days |
| Frozen | 60 days |