串联质谱检测氨基酸和酰基肉碱的室间质量评价

Current state of neonatal screening for amino acid and acyl carnitine testing by tandem mass spectrum

目的调查我国部分新生儿筛查实验室串联质谱检测氨基酸和酰基肉碱的水平和现状。方法向19家新生儿筛查实验室发放5个批号（201211、201212、201213、201214、201215）的血斑质控品,收集实验室回报的氨基酸和酰基肉碱检测值,对回报的结果按照方法分组进行统计分析,并评价其检测水平。结果 18家实验室回报了检测结果,回报率为94.7%。回报结果的18家实验室中有14家实验室采用衍生非配套的试剂检测氨基酸和酰基肉碱,有3家实验室采用衍生配套的试剂检测氨基酸和酰基肉碱,有1家实验室采用非衍生的方法检测氨基酸和酰基肉碱。按照方法学分组同时考虑是否使用配套试剂计算各组及格率,其中,瓜氨酸项目及格率为71.4%～100.0%,亮氨酸项目的及格率为71.4%～100.0%,甲硫氨酸项目的及格率为42.5%～100.0%,苯丙氨酸项目及格率为71.4%～100.0%,酪氨酸项目及格率为71.4%～100.0%,缬氨酸项目的及格率为66.7%～100.0%,游离肉碱项目的及格率为42.9%～100.0%,丙酰肉碱项目的及格率为28.6%～100.0%,异戊酰肉碱项目的及格率为33.3%～92.9%,辛酰肉碱项目的及格率为28.6%～100.0%,月桂酰肉碱项目的及格率为46.2%～100.0%,棕榈酰肉碱项目的及格率为64.3%～100.0%,十八碳酰肉碱项目的及格率为71.4%～100.0%。结论目前串联质谱检测氨基酸和酰基肉碱的质量水平差异较大,开展室间质评项目计划有利于提高我国遗传代谢病的检测领域整体水平。

Objective To investigate the current state of neonatal screening for amino acid and acyl carnitine testing by tandem mass spectrum in China. Methods Five blood spot controls（201211, 201212, 201213, 201214, 201215） were sent to 19 neonatal screening laboratories, each laboratory tested the amino acid and acyl carnitine as required and reported results. Based on their results, data were analyzed according to the methods, and testing performance was evaluated. Results 18（94.7%） laboratories reported the results. 14 out of 18 laboratories tested amino acid and acyl carnitine by derived non-matching reagents, while 3 laboratories by derived matching reagents, 1 laboratory by non-derived method. The acceptance rate was calculated according to the methods and reagent type（matching or non-matching）,they were 71.4%-100.0% for citrulline, 71.4%-100.0% for leucine, 42.5%-100.0% for methionine, 71.4%-100.0% for phenylalanine, 71.4%-100.0% for tyrosine, 66.7%-100.0% for valine, 42.9%-100.0% for free-carnitine, 28.6%-100.0% for propionylcarnitine, 33.3%-92.9% for isoamyl acyl carnitine, 28.6%-100.0% for capryloyl carnitine, 46.2%-100.0% for lauroyl carnitine, 64.3%-100.0% for palmitoyl carnitine, 71.4%-100.0% for 18 carbonyl carnitine. Conclusion The present testing performance for amino acid and acyl carnitine testing by tandem mass spectrum is highly variable. With the help of external quality assessment（EQA） program, total testing performance for inherited metabolic diseases can be improved in our country.