Abstract：
BACKGROUND: This study aims to evaluate the ability of laboratories to perform spinal muscular atrophy (SMA) genetic testing in newborns based on dried blood spot (DBS) samples, and to provide reference data and advance preparation for establishing the pilot external quality assessment (EQA) scheme for SMA genetic testing of newborns in China.
METHODS: The pilot EQA scheme contents and evaluation principles of this project were designed by National Center for Clinical Laboratories (NCCL), National Health Commission. Two surveys were carried out in 2022, and 5 batches of blood spots were submitted to the participating laboratory each time. All participating laboratories conducted testing upon receiving samples, and test results were submitted to NCCL within the specified date.
RESULTS: The return rates were 75.0% (21/28) and 95.2% (20/21) in the first and second surveys, respectively. The total return rate of the two examinations was 83.7% (41/49). Nineteen laboratories (19/21, 90.5%) had a full score passing on the first survey, while in the second survey twenty laboratories (20/20, 100%) scored full.
CONCLUSIONS: This pilot EQA survey provides a preliminary understanding of the capability of SMA genetic testing for newborns across laboratories in China. A few laboratories had technical or operational problems in testing. It is, therefore, of importance to strengthen laboratory management and to improve testing capacity for the establishment of a national EQA scheme for newborn SMA genetic testing.
METHODS: The pilot EQA scheme contents and evaluation principles of this project were designed by National Center for Clinical Laboratories (NCCL), National Health Commission. Two surveys were carried out in 2022, and 5 batches of blood spots were submitted to the participating laboratory each time. All participating laboratories conducted testing upon receiving samples, and test results were submitted to NCCL within the specified date.
RESULTS: The return rates were 75.0% (21/28) and 95.2% (20/21) in the first and second surveys, respectively. The total return rate of the two examinations was 83.7% (41/49). Nineteen laboratories (19/21, 90.5%) had a full score passing on the first survey, while in the second survey twenty laboratories (20/20, 100%) scored full.
CONCLUSIONS: This pilot EQA survey provides a preliminary understanding of the capability of SMA genetic testing for newborns across laboratories in China. A few laboratories had technical or operational problems in testing. It is, therefore, of importance to strengthen laboratory management and to improve testing capacity for the establishment of a national EQA scheme for newborn SMA genetic testing.
摘要：
背景：这项研究旨在评估实验室根据干血斑（DBS）样本对新生儿进行脊髓性肌萎缩（SMA）遗传测试的能力，为我国建立新生儿SMA基因检测试点外部质量评估(EQA)方案提供参考数据和前期准备。
方法：本项目的试验EQA方案内容和评价原则由国家临床实验室中心（NCCL）设计，国家卫生委员会。2022年进行了两次调查，每次向参与实验室提交5批次血斑。所有参与的实验室在收到样品后进行了测试，并在指定日期内将测试结果提交给NCCL。
结果：在第一次和第二次调查中，回报率分别为75.0％（21/28）和95.2％（20/21），分别。两次检查的总回报率为83.7%(41/49)。19个实验室(19/21,90.5%)在第一次调查中满分通过,而在第二次调查中，二十个实验室(20/20，100%)得分满。
结论：这项初步的EQA调查提供了对中国各实验室新生儿SMA基因检测能力的初步了解。一些实验室在测试中存在技术或操作问题。是的,因此,加强实验室管理，提高检测能力，建立全国新生儿SMA基因检测EQA方案。
方法：本项目的试验EQA方案内容和评价原则由国家临床实验室中心（NCCL）设计，国家卫生委员会。2022年进行了两次调查，每次向参与实验室提交5批次血斑。所有参与的实验室在收到样品后进行了测试，并在指定日期内将测试结果提交给NCCL。
结果：在第一次和第二次调查中，回报率分别为75.0％（21/28）和95.2％（20/21），分别。两次检查的总回报率为83.7%(41/49)。19个实验室(19/21,90.5%)在第一次调查中满分通过,而在第二次调查中，二十个实验室(20/20，100%)得分满。
结论：这项初步的EQA调查提供了对中国各实验室新生儿SMA基因检测能力的初步了解。一些实验室在测试中存在技术或操作问题。是的,因此,加强实验室管理，提高检测能力，建立全国新生儿SMA基因检测EQA方案。
