Test Directory

Preferred enzymatic test for detection of arylsulfatase A deficiency. This test is not suitable for carrier detection.

Specimen Type: Whole Blood

Preferred Collection Container: Pale Yellow Top (ACD Solution B)

Alternate Collection Container: Pale Yellow Top (SCD Solution A)

Desired Specimen Volume: 6 mL

Collect specimen only Monday through Thursday and not the day before a holiday.

1. Collect a pale yellow top (ACD Solution B) tube via venipuincture.

1. Transport 6 mL of whole blood in the original collection container.  Do not aliquot.
2. Submit specimen with completed Biochemical Genetics Patient Information form.

Transport to the laboratory refrigerated. 

• Gross hemolysis

See patient report.

Results from this assay may not reflect carrier status because of individual variation of arylsulfatase A enzyme levels. Low normal values may be due to the presence of pseudodeficiency or carrier alleles. Patients with these depressed levels may be phenotypically normal.

This test is not reliable in identifying carriers.

Some patients with metachromatic leukodystrophy will not be detected by this method.

Arylsulfatase A is also deficient in individuals with multiple sulfatase deficiency and possibly in saposin B deficiency.

This disorder is distinct from conditions caused by deficiencies of arylsulfatase B (Maroteaux-Lamy disease) and arylsulfatase C (steroid sulfatase deficiency).

• ARSA Deficiency
• Arylsulfatase A Deficiency
• Metachromatic Leukodystrophy
• MLD