气相色谱-质谱联用检测尿液8种有机酸实验室间质量的调查

目的评价2018年遗传代谢病气相色谱-质谱联用检测尿液有机酸实验室间质量调查结果,以改进和提高新生儿遗传代谢病筛查或相关实验室气相色谱-质谱联用检测质量。方法 2018年3月向全国19家开展气相色谱-质谱联用尿液有机酸检测的实验室发放2个批号质控尿液样品(批号201811和201812)。实验室自愿参加此次调查活动并按照规定格式上报结果、测定方法、仪器和试剂等相关信息。组织者用Clinet EQA程序和Microsoft Excel 2010等软件分析各实验室检测结果及检验前、检验中及检验后过程。结果实验室回报率为94.7%(18/19)。2个批号样品(批号201811和批号201812)的检测中,各参加实验室部分有机酸的检测结果相对稳定;相比高浓度而言,低浓度有机酸的检测水平相对较好。质控品稳定性检测结果显示,苯丙酮酸(稳健变异系数99.48%)和尿黑酸(稳健变异系数67.56%)的结果差异较大。结论相比高浓度,低浓度有机酸的检测水平相对较好;稳定性差的苯丙酮酸和尿黑酸不适合作为室间质量评价质控品,应选用更稳定的化合物作为质控品以评价实验室质量。

External quality survey results of neonatal screening by gas chromatography-mass spectrometry for urine organic acid analysis in China

Objective To evaluate the results of 2018 external quality survey results of neonatal screening by gas chromatography-mass spectrometry (GC-MS) for urine organic acid analysis and improve the quality of disease screening. Methods Each of 19 participating laboratories received 2 batches of quality control urine sample (Lot 201811-201812) in March 2018. Laboratories voluntarily participated in the survey and reported the results, methods, equipments and reagents information. Clinet EQA, and Microsoft Excel 2010 were used to perform statistical analysis on the laboratory test results. The results and the total testing process, including pre- and post-analytical phase, were analyzed respectively. Results 18 laboratories submitted the testing results with a return rate of 94.7% (18/19). Several organic acids were relatively stable, while the results showed great difference with the others. For instance, the robust coefficient of variation (CV) of phenylpyruvic acid reached 99.84%, which might be effected by extracting, nitrogen blowing, calibrating or data processing. The stability of the quality control samples showed poor stability of phenylpyruvic acid and alcapton. Conclusions The results of this external quality survey of neonatal screening by GC-MS for urine organic acid indicates that the screening laboratories should improve their quality control system and take timely measures to correct mistakes during the whole analytic period to improve the accuracy of screening tests.