Description:

The deficiency of a-N-acetyl-D-glucosaminidase causes Sanfilippo B mucopolysaccharidosis. This protocol utilizes a synthetic substrate, p-nitrophenyl-2-acetamido-deoxy-D-glucopyranoside. Enzyme activity is determined by measuring the release of p-nitrophenol following alkalinization of the sample.

Specimen Requirements:

The assay may be performed on serum, plasma, or fibroblasts. This assay requires 2-3 ml of serum or plasma. Both serum and plasma should be stored frozen at -20ºC until use, but not for more than 14 days. Ship serum or plasma frozen by overnight carrier. 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:

Plasma and Serum: 170-680 pmoles/min/ml serum or plasma
Skin Fibroblasts: 104-306 pmoles/min/mg protein

Turnaround Time:

Plasma and Serum: 2 weeks

Skin fibroblasts assays are growth dependent.

CPT Codes and Prices:

Plasma and Serum: 82657
Skin Fibroblast Culture: 82657, 84155, 88240, 88233

Shipping Information

Forms:

>> Biochemical Requisition

Test Codes:

Plasma and Serum: 4579
Skin Fibroblast Culture: 4580

Medical Genetics Laboratories
Baylor College of Medicine · Houston, TX 77030
Phone: 1-800-411-GENE · Fax: 713-798-6584
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