Confirmation of Metachromatic Leukodystrophy. The leukocyte assay is the preferred test to order first to rule out Metachromatic Leukodystrophy. The urine assay should be used in confirming leukocyte results.
> or =19 nmol/h/mL. Greatly reduced levels of arylsulfatase A in urine (< or =15 nmol/h/mL), as well as in serum and various tissues, is seen in patients with metachromatic leukodystrophy.
Results from this assay may not reflect carrier status because of individual variation of arylsulfatase A enzyme levels.
9 - 16 days
- Metachromatic Leukodystrophy
- Mucolipidoses, Types II and III
- ARYLSULFATASE A, URINE
Collect 24 hour urine specimen with no preservative; refrigerate during collection. Aliquot 6 ml into a plastic urine container and refrigerate. Record total 24 hour urine volume and collection dates/times on request form.
Test sent to Mayo Medical Laboratories.