Application of multigene panel testing for bleeding, thrombotic, and platelet disorders in patients and the general population in China

Application of multigene panel testing for bleeding, thrombotic, and platelet disorders in patients and the general population in China

Abstract Bleeding, thrombotic, and platelet disorders (BTPDs) are rare but complex conditions with diverse clinical presentations that often delay accurate diagnosis. In this study, we developed an Expanded Thrombohemostasis (ExTH) gene panel comprising 130 diagnostic and risk-associated genes. This...

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Bibliographic Details
Main Authors: Yaohua Cai, Wenyi Lin, Jun Deng, Zhipeng Cheng, Yanyi Tao, Hui Lu, Yunqing Xia, Tingting Wu, Liang V. Tang, Yu Hu
Format: Article
Language:English
Published: Springer 2025-06-01
Series:Molecular Biomedicine
Subjects:
Next-generation sequencing
Genetic analysis
Pathogenic variants
Age of onset
Thrombosis
Coagulation factor
Online Access:https://doi.org/10.1186/s43556-025-00283-6
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https://doi.org/10.1186/s43556-025-00283-6

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