Diagnose patient with metachromatic leukodystrophy (MLD)

• This assay does not identify patients with a rare form of MLD due to cerebroside sulfate activator protein deficiency.
• Unaffected pseudodeficiency homozygotes and compound heterozygotes cannot be distinguished from affected individuals by this assay.
• ASA activity may not reflect carrier status.

Yellow ACD (A or B)

• Collect specimens Mo - Th only; sample must arrive in the laboratory within 4 days of collection
• Immediately following collection, mix by inverting 8 - 10 times to prevent clotting

Yellow ACD (A or B)

Refrigerated (strict) - 4 days

Time sensitive; specimen must arrive at the testing laboratory within 4 days of collection.

• Quantity not sufficient (QNS) for analysis
• Specimen frozen
• Specimen not received at the performing laboratory within 4 days of collection
• Incorrect specimen collection tube to isolate white blood cells

Determination of enzymatic activity with p-nitrocatechol sulfate

25.0 - 90.0 nmol/hr/mg protein