Application of high-throughput sequencing in the diagnosis of inherited bleeding and thrombotic disorders
10.3760/cma.j.cn114452-20201113-00834
- VernacularTitle:高通量测序技术在遗传性出血与血栓性疾病中的应用
- Author:
Ke WANG
1
;
Chenxue QU
Author Information
1. 北京大学第一医院检验科，北京 100034
- Keywords:
High throughput sequencing;
Bleeding disorders;
Platelet disorders;
Molecular diagnostics
- From:
Chinese Journal of Laboratory Medicine
2021;44(8):764-768
- CountryChina
- Language:Chinese
-
Abstract:
Inherited bleeding and thrombotic disorders (BTD) are a group of heterogeneous diseases related to the coagulation system, platelet function and fibrinolytic system. In addition to the common BTD, it is difficult to diagnose such patients by routine laboratory tests, and special laboratory tests are often required to confirm the diagnosis. Therefore, the diagnosis and treatment of patients may be delayed, or even life-threatening. With the increasing use of high-throughput sequencing (HTS) technology in clinical practice, the diagnosis and differential diagnosis of BTD have made great progress.
