This biochemical test is a quantitative measurement of Heparan-N-sulfatase enzyme activity and can be used as a 1st tier test for patients with a clinical
suspicion of Mucopolysaccharidosis IIIA (MPS IIIA)/Sanfilippo A syndrome. Demonstration of deficient Heparan-N-sulfatase enzyme activity is considered
the gold standard to confirm a diagnosis of Mucopolysaccharidosis IIIA (MPS IIIA)/Sanfilippo A syndrome.
In addition, it can be used to clarify molecular findings in the SGSH gene and to monitor patients undergoing treatment.