高通量测序技术在遗传性出血与血栓性疾病中的应用  

Application of high-throughput sequencing in the diagnosis of inherited bleeding and thrombotic disorders

作　　者：王轲 屈晨雪[1] Wang Ke;Qu Chenxue(Department of Laboratory,the First Hospital of Peking University,Beijing 100034,China)

机构地区：[1]北京大学第一医院检验科,北京100034

出　　处：《中华检验医学杂志》2021年第8期764-768,共5页Chinese Journal of Laboratory Medicine

摘　　要：遗传性出血和血栓性疾病(BTD)是一组与凝血系统、血小板功能和纤溶系统相关的异质性疾病。除常见BTD外,常规实验室诊断这类疾病有很大难度,常需要进行特殊的实验检查方能明确诊断。因此,可能会延误患者的诊治,甚至危及生命。随着高通量测序(HTS)技术在临床实践中使用得愈发普遍,BTD的诊断和鉴别诊断有了长足的进步。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.

关 键 词：高通量测序 出血性疾病 血小板疾病 分子诊断 

分 类 号：R554[医药卫生—血液循环系统疾病] R440[医药卫生—内科学]