Early genomic testing for inherited bleeding disorders in patients without a diagnosis after first-line testing: a randomized controlled trial

对一线检测后未确诊的患者进行遗传性出血性疾病的早期基因组检测：一项随机对照试验

• 批准号: 495946
• 负责人: James Paula D
• 金额: $ 100.17万
• 依托单位: Queen's University (Kingston, Ontario)
• 依托单位国家: 加拿大
• 项目类别: Operating Grants
• 财政年份: 2023
• 资助国家: 加拿大
• 起止时间: 2023-11-01 至 2026-11-01
• 项目状态: 未结题
• 来源: https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=495946&lang=en
• 关键词: Diagnosis; Genetic Testing; Inherited Bleeding Disorders

The inherited bleeding disorders are a group of rare diseases characterized by abnormal bleeding symptoms, ranging from mild nuisance bleeding to life-threatening hemorrhage. The current diagnostic journey for these patients is lengthy, costly, resource i

遗传性出血性疾病是一组以异常出血症状为特征的罕见疾病，范围从轻微的令人讨厌的出血到危及生命的出血。目前这些患者的诊断过程漫长、成本高昂、资源匮乏