实验室诊断活性蛋白C抵抗和V因子Leiden的实验室诊断
Mehran Bahraini1, Alieh Fazeli2, Akbar Dorgalaleh3
1Department of Hematology and Blood Transfusion, School of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran.
Seminars in thrombosis and hemostasis
|July 10, 2023
概括
维因子Leiden (FVL) 多态性是一种常见的静脉血栓的遗传风险,导致活性蛋白C抵抗 (APCR). 本综述详细介绍了用于诊断APCR和FVL的实验室方法,指导测试选择.
科学领域:
- 血液学 血液学 血液学
- 分子诊断学 分子诊断
- 血栓形成研究研究
背景情况:
- 维因子Leiden (FVL) 多态性是静脉血栓形成的主要遗传风险因素.
- FVL是激活蛋白C耐药性 (APCR) 的主要原因,这种情况导致抗凝剂反应减弱.
- 实验室诊断通常包括对APCR的查,然后进行确认性FVL遗传检测.
研究的目的:
- 审查和描述APCR和FVL实验室测试的方法方面.
- 为APCR和FVL测试提供有关适当指示的指导.
- 为选择最合适的实验室方法提供建议.
主要方法:
- 将诊断方法分为基于血的查试验 (例如APCR的功能凝块试验) 和基于DNA的确认试验 (例如FVL的PCR技术) 的诊断方法.
- 描述各种可用的方法的灵敏度和特异性.
- 讨论基于DNA的分子分析的不同平台.
主要成果:
- 有多种已验证的方法用于APCR和FVL检测.
- 一个分层的诊断方法是常见的,从功能测试开始,继续进行基因测试.
- 方法的选择取决于临床背景和实验室的能力.
结论:
- 准确的实验室检测对于诊断FVL相关的血栓形成风险至关重要.
- 了解不同类型试验的优点和局限性对于适当的试验选择至关重要.
- 标准化测试指示和方法选择的指导方针可以改善诊断产量和患者管理.
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