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首页> 外文期刊>International journal of laboratory hematology >Molecular testing for disorders of hemostasis
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Molecular testing for disorders of hemostasis

机译：止血障碍的分子检测

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The investigation of inherited bleeding disorders with routine tests of hemostasis will yield clear diagnostic information in the majority of subjects with an unequivocal history of bleeding and especially in those where the phenotypic severity is severe and where an obvious family history of bleeding is present. Nevertheless, a significant minority of subjects with obvious bleeding symptoms will remain without a definite diagnosis after extensive hemostatic testing. With these facts in mind, the role of molecular testing for inherited disorders of hemostasis now includes the following: confirmation of a phenotypic diagnosis through targeted genetic analysis, the distinction of bleeding phenocopies by molecular analysis, and provision of genetic testing as the investigation of choice in situations such as prenatal diagnosis and detection of the carrier state for inherited bleeding traits. In addition, molecular testing can sometimes be used to provide supplementary knowledge that can be used to enhance clinical care. Finally, the utility of genome-wide approaches to identify novel genetic associations may provide new information to explain the cause of bleeding in the population of bleeders without established diagnoses.
机译：通过常规止血测试对遗传性出血性疾病进行调查，将在大多数具有明确出血史的受试者中，特别是在表型严重性严重且存在明显家族血史的受试者中，获得清晰的诊断信息。然而，在进行大量的止血测试后，仍有少数具有明显出血症状的受试者仍未得到明确的诊断。考虑到这些事实，分子测试在遗传性止血性疾病中的作用现在包括以下内容：通过有针对性的遗传分析确认表型诊断，通过分子分析区分出血表型，并提供基因测试作为选择调查在诸如产前诊断和遗传性出血性状携带者状态检测等情况下。此外，有时可以使用分子检测来提供补充知识，以用于增强临床护理。最后，全基因组方法用于鉴定新的遗传关联的实用性可能会提供新的信息，以解释没有明确诊断的出血人群出血的原因。

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