Rattenbury J M, Worthy E, Allen J C
Department of Chemical Pathology, Children's Hospital, Sheffield.
J Clin Pathol. 1988 Sep;41(9):936-9. doi: 10.1136/jcp.41.9.936.
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.
三份尿液样本被分发给特伦特和约克郡地区的实验室，以评估它们检测糖胺聚糖的能力。对于患有亨特氏病和莫尔基奥氏病患者的样本，结果令人满意，但在报告桑菲利波氏病样本结果的14个实验室中，有6个未能检测出异常情况。对随后一份调查问卷的回复表明，检测未成功的实验室没有使用推荐的筛查方法，他们缺乏这些疾病检测方面的经验，这表明可能需要对这类筛查服务进行合理化调整。
