Multiple Sulfatase Deficiency, Leukocytes
Use
Supporting the biochemical diagnosis of multiple sulfatase deficiency (MSD) in whole blood specimens. MSD is a rare autosomal recessive lysosomal storage disorder caused by mutations in the sulfatase-modifying factor 1 (SUMF1) gene. It affects the posttranslational activation of all human sulfatases. Clinical symptoms vary and may include signs similar to metachromatic leukodystrophy, mucopolysaccharidoses, and others. This test helps confirm reduced enzyme activity suggestive of MSD, but further biochemical or molecular tests are required for diagnosis.
Special Instructions
For optimal isolation of leukocytes, it is recommended that specimens arrive refrigerated within 6 days of collection for stabilization. Collect specimens Monday through Thursday only, avoiding the day before a holiday. Include patient age and reason for testing on the order form.
Limitations
This test is not useful for carrier detection. Individuals with pseudodeficiency alleles may show reduced enzyme activity, which can complicate interpretation. Carrier status or heterozygosity cannot be reliably detected. Confirmation of a preliminary diagnosis often requires further biochemical or molecular analyses.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
LOINC Codes
- 104073-2
- 42349-1
- 24089-5
- 24086-1
- 24098-6
- 24096-0
- 59462-2
- 18771-6
Result Turnaround Time
3-9 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 preferred); Yellow top (ACD solution A) or lavender top (EDTA) acceptable
Collection Instructions
Send whole blood specimen in original tube. Do not aliquot.
Causes for Rejection
Gross hemolysis
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 6 days |
| Refrigerated | 6 days |