Results of a Pilot External Quality Assessment Scheme for Genetic Testing of Newborns with Spinal Muscular Atrophy

被引：0

作者：

Wang, Wei ^{[1
]}

Wu, Liping ^{[3
]}

Hui, Yufan ^{[4
]}

Du, Yuxuan ^{[1
,4
]}

Yang, Jiangtao ^{[3
]}

Jiang, Panpan ^{[3
]}

Gu, Maosheng ^{[5
]}

He, Hongqin ^{[6
]}

Qiu, Li ^{[7
]}

Zhang, Zhiqiang ^{[8
]}

Gao, Lingliang ^{[3
,24
]}

Lin, Chuxin

Jiang, Jianhui ^{[9
]}

He, Xiaoyan ^{[10
]}

Miao, Jingkun ^{[11
]}

Li, Yong ^{[12
]}

Luo, Zemin ^{[13
]}

Zhang, Hong ^{[14
]}

Liu, Yang ^{[15
]}

Li, Linjie ^{[16
]}

Li, Xiaoze ^{[17
]}

Gan, Xinhui ^{[18
]}

Mou, Kai ^{[19
]}

Liang, Haijun ^{[20
]}

Shi, Anhui ^{[21
]}

Zhou, Shihao ^{[22
]}

Huang, Xiaoling ^{[23
]}

Sun, Longjie

Wan, Tao ^{[25
]}

Ji, Guofu ^{[26
]}

Tang, Kunqiang ^{[27
]}

Ye, Qiang ^{[28
]}

Sun, Zhiyong ^{[4
]}

Dai, Zipeng ^{[4
]}

Du, Yue ^{[29
]}

Wang, Xiaojian ^{[30
]}

Yang, Yanling ^{[2
]}

Xiong, Hui ^{[2
]}

Wang, Zhiguo ^{[1
]}

机构：

[1] Beijing Hosp, Inst Geriatr Med, Chinese Acad Med Sci, Natl Ctr Clin Labs,Natl Ctr Gerontol, Beijing 100730, Peoples R China

[2] Peking Univ First Hosp, Dept Pediat, Beijing 100034, Peoples R China

[3] Shenzhen Rare Dis Engn Res Ctr Metabol Precis Med, Shenzhen, Guangdong, Peoples R China

[4] Shenzhen Aone Med Lab Co Ltd, Shenzhen, Guangdong, Peoples R China

[5] Xuzhou Matern & Child Hlth Care Hosp, Xuzhou, Jiangsu, Peoples R China

[6] Yuncheng Matern & Child Hlth Care Hosp, Dept Genet, Yuncheng, Shanxi, Peoples R China

[7] Loudi Maternal & Child Hlth Hosp, Genet Lab, Loudi, Hunan, Peoples R China

[8] Huizhou 2 Womens & Childrens Healthcare Hosp, Huizhou, Guangdong, Peoples R China

[9] Guangdong Women & Children Hosp, Children Inherited Metab & Endocrine Dept, Guangzhou, Guangdong, Peoples R China

[10] Chongqing Med Univ, Childrens Hosp, Chongqing, Peoples R China

[11] Chongqing Med Univ, Chongqing Hlth Ctr Women & Children, Women & Childrens Hosp, Chongqing, Peoples R China

[12] Guizhou Prov Maternal & Child Hlth Care Hosp, Guiyang, Guizhou, Peoples R China

[13] Sichuan Prov Hosp Women & Children, Chengdu, Sichuan, Peoples R China

[14] Suqian Maternal & Child Hlth Care Hosp, Suqian, Jiangsu, Peoples R China

[15] Hohhot Maternal & Child Hlth Hosp, Hohhot, Inner Mongolia, Peoples R China

[16] Guiyang Maternal & Child Hlth Care Hosp, Guiyang, Guizhou, Peoples R China

[17] Changzhi Maternal & Child Hlth Care Hosp, Changzhi, Shanxi, Peoples R China

[18] Matern & Child Hlth Care Zaozhuang, Zaozhuang, Shandong, Peoples R China

[19] Zibo Maternal & Child Hlth Hosp, Zibo, Shandong, Peoples R China

[20] Weifang Maternal & Child Hlth Hosp, Weifang, Shandong, Peoples R China

[21] Yibin Maternal & Child Hlth Hosp, Yibin, Sichuan, Peoples R China

[22] Changsha Matern & Child Hlth Care Hosp, Changsha, Hunan, Peoples R China

[23] Dongguan City Maternal & Child Hlth Hosp, Dongguan, Guangdong, Peoples R China

[24] Datong Maternal & Child Hlth Hosp, Datong, Shanxi, Peoples R China

[25] WanzhouDistrict Maternal & Child Hlth Care Hosp Ch, Chongqing, Peoples R China

[26] Changchun Maternal & Child Hlth Hosp, Changchun, Jilin, Peoples R China

[27] Panzhihua Maternal & Child Hlth Hosp, Panzhihua, Sichuan, Peoples R China

[28] West China Second Univ, Zigong Hosp Women & Children Hlth Care, Hosp Southern Sichuan Womans & Childrens Hosp, Zigong, Sichuan, Peoples R China

[29] Xuzhou Aone Med Lab Co Ltd, Xuzhou, Jiangsu, Peoples R China

[30] Chinese Acad Med Sci & Peking Union Med Coll, Fuwai Hosp, Key Lab Pulm Vasc Med, Natl Ctr Cardiovasc Dis,State Key Lab Cardiovasc D, Beijing, Peoples R China

来源：

CLINICAL LABORATORY | 2024年 / 70卷 / 05期

关键词：

external quality assessment; genetic testing; spinal muscular atrophy; newborn screening;

D O I：

10.7754/Clin.Lab.2023.230907

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

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.

引用

页码：850 / 858

页数：9

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