上海地区苯丙酮尿症基因检测室间质量评价

目的通过开展苯丙酮尿症基因检测室间质量评价计划(简称室间质评),评估参评实验室检测能力,提高检测质量。方法2019年室间质评计划为1年2次,共包含苯丙氨酸羟化酶基因(phenylalanine hydroxylase,PAH)的4个致病变异位点,涉及错义变异和剪接变异2种类型。样本盘包含5支样本,类型为干血斑。要求参评实验室收到样本后在规定时间内检测样本并网络上报检测结果。依据回报结果计算各实验室成绩,汇总不同样本的总体符合率,并分析致病变异位点检测及结果报告错误类型。结果2次室间质评分别收到3份和2份有效回报结果,成绩合格的实验室分别为1家和2家。2次室间质评中,样本检测结果的总体符合率分别为60%(9/15)和100%(10/10)。结果汇总中共出现检测错误6例,错误的类型集中表现为假阴性。剪接变异的检出符合率明显低于错义变异。结论临床实验室在苯丙酮尿症遗传基因致病变异检测及结果分析报告方面能力有待提高。通过参加室间质评计划能帮助实验室发现检测中存在的问题,提高检测质量。

External quality assessment for genetic testing of phenylketonuria in Shanghai

Abstract: Objective:To evaluate the testing ability of the participating laboratories and improve the testing quality by carrying out the external quality assessment (EQA) for genetic testing of phenylketonuria. Methods:The 2019 EQA program was carried out twice a year, and 4 pathogenic variants on phenylalanine hydroxylase (PAH) gene, including missense variation and splicing variation, were investigated. A total of 5 different dry blood spot samples were detected each time. The participating laboratories were asked to detect the samples within the specified time after receiving the samples and report the test results online. According to the return results, the scores of each laboratory were calculated, the overall coincidences of different samples were summarized, and the detection results of the pathogenic variants and the types of error in the test reports were analyzed. Results:Three and two valid return results were received in the two EQA programs, respectively, and one and two laboratories achieved acceptable results, respectively. In the two EQA programs, the overall coincidence rates of detection results were 60% (9/15) and 100% (10/10), respectively. In the test reports, a total of 6 error results were presented, all of which were false negative. The coincidence rate of splicing variation was significantly lower than that of missense variation. Conclusion:The ability of clinical laboratories to detect the pathogenic variation of phenylketonuria and analyze the results should be improved. EQA program can help clinical laboratories find out the problems in testing and improve the quality of testing.