Applying targeted next generation sequencing to dried blood spot specimens from suspicious cases identified by tandem mass spectrometry-based newborn screening

被引：18

作者：

Qian, Jicheng ^{[1
,4
,5
]}

Wang, Xiaonan ^{[3
]}

Liu, Jia ^{[6
]}

Zhong, Junyuan ^{[1
,5
]}

Le, Yanqun ^{[3
]}

Tellier, Laurent C. A. Melchior ^{[7
]}

Liu, Chao ^{[1
,5
]}

Jiang, Pingping ^{[1
,5
]}

Gao, Rui ^{[1
,2
]}

Wang, Yuan ^{[3
]}

机构：

[1] China Natl GeneBank, Shenzhen, Peoples R China

[2] BGI Shenzhen, Shenzhen 518083, Peoples R China

[3] BGI Tianjin Clin Testing Lab Inst, Tianjin 300308, Peoples R China

[4] Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen, Peoples R China

[5] BGI Shenzhen, Maternal & Child Hlth Inst, Shenzhen, Peoples R China

[6] BGI Genom Co Ltd, Prod Dev Div, Shenzhen, Peoples R China

[7] Univ Copenhagen, Dept Biol, Bioinformat, Copenhagen, Denmark

来源：

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM | 2017年 / 30卷 / 09期

关键词：

dried blood spot; inborn errors of metabolism; newborn screening; tandem mass spectrometry; targeted next generation sequencing; INBORN-ERRORS; FUTURE PERSPECTIVES; MAINLAND CHINA; METABOLISM; GUIDELINES; MUTATIONS; FRAMEWORK; VARIANTS; GENOMICS; GENE;

D O I：

10.1515/jpem-2017-0003

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Background: Tandem mass spectrometry (TMS)-based newborn screening has been proven successful as one of the public healthcare programs, although the practicability has not yet been specifically addressed. Methods: Sixty residual dried blood spot (DBS) specimens from confirmation/diagnosis-insufficient cases discovered by TMS screening were analyzed by targeted next generation sequencing (TNGS) assay. Results: In total, 26, 11, 9, and 14 cases were diagnosed as positive, high risk, low risk, and negative, respectively. Conclusions: Applying the DBS-based TNGS assay for the accurate and rapid diagnosis of inborn errors of metabolism (IEMs) is feasible, competent, and advantageous, enabling a simplified TMS screening-based, TNGS assay-integrated newborn screening scheme highlighting an efficient, executable, and one-step screening-to-diagnosis workflow.

引用

页码：979 / 988

页数：10

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