School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom.
Semin Thromb Hemost. 2019 Oct;45(7):685-694. doi: 10.1055/s-0039-1687888. Epub 2019 Apr 30.
Recent advances in genetic analysis are bringing huge benefits to patients with rare genetic disorders, including those with inherited disorders of platelet number and function. Modern clinical hematological practice now has a range of genetic techniques available to enable the precision diagnosis of inherited platelet disorders (IPDs). There are some features of this disparate group of inherited disorders that present specific challenges to establishing an accurate genetic diagnosis. This review aims to introduce the techniques that are relevant for the genetic diagnosis of IPDs and will discuss the key considerations necessary for their application to the clinic.
遗传分析的最新进展正在给患有罕见遗传性疾病的患者带来巨大的益处，包括那些血小板数量和功能遗传性障碍的患者。现代临床血液学实践现在有一系列遗传技术可供使用，以实现遗传性血小板疾病（IPD）的精确诊断。这一组不同的遗传性疾病具有一些特征，给确定准确的遗传诊断带来了特殊的挑战。本文旨在介绍与 IPD 遗传诊断相关的技术，并将讨论将这些技术应用于临床所需的关键考虑因素。
