Multiple Sulfatase Deficiency, Blood Spot
Use
This test supports the biochemical diagnosis of multiple sulfatase deficiency, a rare autosomal recessive lysosomal storage disorder. It is characterized by the accumulation of sulfated oligosaccharides due to a deficiency in multiple sulfatase enzymes. The test functions as a screening panel for individuals presenting with clinical signs and symptoms that suggest multiple sulfatase deficiency. Positive results from this screening test indicate the need for additional biochemical or molecular testing to confirm a diagnosis. It is not useful for carrier detection.
Special Instructions
Ensure patient age and reason for testing are provided. Blood spots must be completely dried and collected from two spots for optimal results. Store samples at room temperature and protect from heat and direct sunlight.
Limitations
This test is not sufficient to establish a definitive diagnosis; abnormal results require follow-up biochemical and molecular genetic analyses. Carrier status cannot be reliably detected. Interference may occur due to pseudodeficiency alleles which reduce enzyme activity but do not necessarily correlate with disease.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
LOINC Codes
- 104116-9
- 42349-1
- 79462-8
- 104113-6
- 88019-5
- 59462-2
- 18771-6
Result Turnaround Time
3-9 days
Related Documents
For more information, please review the documents below
Specimen
Dried Blood Spot
Volume
2 Blood spots
Minimum Volume
1 Blood spot
Container
Blood Spot Collection Card
Collection Instructions
Let blood dry on filter paper at room temperature horizontally for at least 3 hours. Do not expose to heat or direct sunlight. Do not stack wet specimens. Keep dry.
Storage Instructions
Refrigerate (preferred), stable for 60 days; ambient, stable for 7 days; frozen, stable for 60 days.
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 |