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Clinical Trial
. 2018 Dec;24(9_suppl):94S-103S.
doi: 10.1177/1076029618790696. Epub 2018 Aug 13.

Application of High-Throughput Sequencing in the Diagnosis of Inherited Thrombocytopenia

Qi Wang  1   2 , Lijuan Cao  1   2 , Guangying Sheng  1   2 , Hongjie Shen  1   2 , Jing Ling  3 , Jundan Xie  1   2 , Zhenni Ma  1   2 , Jie Yin  1   2 , Zhaoyue Wang  1   2 , Ziqiang Yu  1   2 , Suning Chen  1   2 , Yiming Zhao  1   2 , Changgeng Ruan  1   2 , Lijun Xia  1   2   4 , Miao Jiang  1   2
Affiliations
Clinical Trial

Application of High-Throughput Sequencing in the Diagnosis of Inherited Thrombocytopenia

Qi Wang et al. Clin Appl Thromb Hemost. 2018 Dec.

Abstract

Inherited thrombocytopenia is a group of hereditary diseases with a reduction in platelet count as the main clinical manifestation. Clinically, there is an urgent need for a convenient and rapid diagnosis method. We introduced a high-throughput, next-generation sequencing (NGS) platform into the routine diagnosis of patients with unexplained thrombocytopenia and analyzed the gene sequencing results to evaluate the value of NGS technology in the screening and diagnosis of inherited thrombocytopenia. From a cohort of 112 patients with thrombocytopenia, we screened 43 patients with hereditary features. For the blood samples of these 43 patients, a gene sequencing platform for hemorrhagic and thrombotic diseases comprising 89 genes was used to perform gene detection using NGS technology. When we combined the screening results with clinical features and other findings, 15 (34.9%) of 43patients were diagnosed with inherited thrombocytopenia. In addition, 19 pathogenic variants, including 8 previously unreported variants, were identified in these patients. Through the use of this detection platform, we expect to establish a more effective diagnostic approach to such disorders.

Keywords: NGS; inherited thrombocytopenia; platelet.

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Conflict of interest statement

Declaration of Conflicting Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Figures

Figure 1.
Figure 1.
Sequencing output of the HAT NGS platform.
See this image and copyright information in PMC

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