两种非衍生化串联质谱法检测试剂在遗传代谢病筛查中的性能比较及应用评价

Performance comparison and application evaluation of two non-derivatized tandem mass spectrometry detection reagents in the screening of inherited metabolic disease

目的评价两种非衍生化串联质谱法检测试剂(Neobase试剂盒及NSK试剂)筛查遗传代谢病(IMD)的性能。方法在同一台Xevo TQD串联质谱仪上,分别利用Neobase试剂盒及NSK试剂进行IMD筛查,对两种试剂的检测准确性、稳定性、精密度及临床标本检测性能进行验证和比较。结果NSK试剂与Neobase试剂盒相比,在内标种类、室内质控品、萃取液及流动相、进样方式等方面存在差异。准确性验证结果显示,NSK试剂检测的23个项目中,质控合格的(测定成绩≥80%)有21项,测定成绩达100%的项目占82.6%(19/23);Neobase试剂盒检测的23个项目全部合格,测定成绩达100%的项目占78.3%(18/23)。精密度验证中,Neobase试剂盒检测羟基异戊酰肉碱、戊二酰肉碱、己酰肉碱低水平标本和十四酰肉碱高水平标本的批内精密度>10.00%,而检测其余项目低、中、高水平标本的批内和批间精密度均优于NSK试剂。在稳定性验证中,两种试剂表现类似,在启用第15天检测各项目中、高水平质控品时表现出良好的稳定性。针对筛查结果未知的150份新生儿足底血标本与20份已经过IMD筛查的患儿足底血标本,NSK试剂和Neobase试剂盒在启用第3天、第15天、第28天的检测结果完全相符。结论对比Xevo TQD串联质谱仪配套的Neobase试剂盒,NSK试剂虽在检测准确性、精密度上稍有不足,但在稳定性上与Neobase试剂盒表现类似,且二者在临床应用中检测结果一致。

Objective To evaluate the performance of two non-derivatized tandem mass spectrometry detection reagents(Neobase kit and NSK reagent)for screening inherited metabolic disease(IMD).Methods In the same Xevo TQD tandem mass spectrometer,Neobase kit and NSK reagent were used for IMD screening,respectively.The detection accuracy,stability,precision and clinical detection performance of the two reagents were verified and compared.Results Compared with Neobase kit,NSK reagent have differences in the types of internal standards,indoor quality control products,extraction solutions and mobile phases,and injection methods.The accuracy verification results showed that,among the 23 items detected by NSK reagent,21 items were qualified(detection results≥80%),and 82.6%(19/23)of the 23 items had 100%detection results.All the 23 items detected by Neobase kit were qualified,and 78.3%(18/23)of them achieved 100%detection results.In the precision verification,the Neobase kit detected hydroxyisovaleryl carnitine,glutaryl carnitine,hexanoyl carnitine low-level specimens and tetradecyl carnitine high-level specimens with intra-assay precision>10%,and the intra-assay and inter-assay precision of the other items of low,medium and high-level specimens were better than NSK reagent.In the stability verification,the two reagents performed similarly,and showed good stability when detecting the medium and high-level quality control products of each item on the 15th day of activation.For 150 samples of infant plantar blood with unknown screening results and 20 children who have been screened IMD,the results of NSK reagent and Neobase kit were in good agreement on the third,15th and 28th days of activation.Conclusion Compare with the Neobase kit of Xevo TQD tandem mass spectrometer,the NSK reagent is slightly insufficient in detection accuracy and precision,but it is similar to the Neobase kit in terms of stability,and the detection results of the two are consistent in clinical applications.