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Results of a Pilot External Quality Assessment Scheme for Genetic Testing of Newborns with Spinal Muscular Atrophy by Wei Wang, Liping Wu, Yufan Hui, Yuxuan Du, Jiangtao Yang, Panpan Jiang, Maosheng Gu, Hongqin He, Li Qiu, Zhiqiang Zhang, Lingliang Gao, Chuxin Lin, Jianhui Jiang, Xiaoyan He, Jingkun Miao, Yong Li, Zemin Luo, Hong Zhang, Yang Liu, Linjie Li, Xiaoze Li, Xinhui Gan, Kai Mou, Haijun Liang, Anhui Shi, Shihao Zhou, Xiaoling Huang, Longjie Sun, Tao Wan, Guofu Ji, Kunqiang Tang, Qiang Ye, Zhiyong Sun, Zipeng Dai, Yue Du, Xiaojian Wang, Yanling Yang, Hui Xiong, Zhiguo Wang

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.

DOI: 10.7754/Clin.Lab.2023.230907