ARYLSULFATASE A
Metachromatic Leukodystrophy
BIOCHEMICAL ANALYSIS
Also see: Arylsulfatase A Deficiency - ARSA Sequencing

Description:

Deficiency of arylsulfatase A causes metachromatic leukodystrophy. This protocol utilizes the synthetic substrate p-nitrocatechol sulfate. The activity is determined by measuring the release of free p-nitrocatechol after the addition of base. A bright orange color is produced which absorbs at 515 nm.

Specimen Requirements:

The assay may be performed on white blood cells and fibroblasts. For white blood cells, draw 7-10 ml in a yellow top (ACD) tube and ship to us on wet ice in an insulated container by overnight express. Sample must arrive at our location within 48 hrs. For fibroblasts, send two T25 flasks of confluent cells in an insulated container by overnight carrier.

Normal Range:

Skin Fibroblasts: 13.1-33.9 nmol/min/mg protein
White Blood Cells: 1.7-7.5 nmol/min/mg protein

Turnaround Time:

White Blood Cells: 2 weeks
Skin fibroblasts assays are growth dependent.

CPT Codes and Prices:

Skin Fibroblast Culture: 82657, 84311, 84155, 88240, 88233
White Blood Cells: 84311, 82657, 84155

Shipping Information

Forms:

>> Biochemical Requisition

Test Codes:

Skin Fibroblast Culture: 4537
White Blood Cells:
4538