Use

This test supports the biochemical diagnosis of mucopolysaccharidoses types IIIA, IIIB, and IIIC. It provides diagnostic testing for individuals with clinical signs and symptoms suspicious for these types. The assay detects enzyme deficiencies associated with mucopolysaccharidosis III (also known as Sanfilippo syndrome), which results in the excretion of heparan sulfate and is characterized by severe central nervous system (CNS) degeneration and mild physical symptoms. Onset usually occurs between ages 2 and 6, with severe neurologic degeneration by age 6 to 10 years. This test is not useful for carrier detection.