Results of a Quality Assurance Exercise for Urinary Glycosaminoglycan Excretion

Abstract

Urine samples collected from four patients with a mucopolysaccharide storage disease (MPS) and two non-MPS patients were distributed to up to 33 laboratories as a test of their ability to detect abnormal glycosaminoglycan excretion. Seven national reference laboratories made a correct diagnostic assignment to all samples analysed. Qualitative turbidity and spot tests were shown to be unreliable. Failure to identify the excretion pattern occurred when reliance was placed on one-dimensional electrophoresis or thin layer chromatography as the sole method for glycosaminoglycan identification. Two-dimensional electrophoresis appeared to be the method of choice provided that staff had adequate experience in interpretation. Clinically unacceptable delays in analysis were common, with 80% of laboratories taking longer than 10 days to issue a report.