Multiple Sulfatase Deficiency, Leukocytes

Casandra

Casandra Test Code MC58889Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID MSDWCPT Code 82657

Multiple Sulfatase Deficiency, Leukocytes

Clinical Use

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.

Test Details

New York Approved