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.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
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.