Abstract

Three urine samples were distributed to laboratories in the Trent and Yorkshire regions to assess their ability to detect glycosaminoglycans. Satisfactory results were obtained for samples from patients with Hunter's and Morquio's diseases but six of 14 laboratories reporting a result for a Sanfilippo sample missed the abnormality. Replies to a subsequent questionnaire showed that unsuccessful laboratories were not using recommended screening methods, that they lacked experience in testing for these diseases, and that rationalisation of such screening services may be indicated.