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Updated: Jun 4, 2025

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对于疑似罕见遗传疾病的诊断途径中的外体序列测序:测试的顺序是否会影响其成本效益?

Koen Degeling1,2, Toni Tagimacruz2, Karen V MacDonald2

  • 1Cancer Health Services Research, Centre for Health Policy and Centre for Cancer Research, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, Australia.

Applied health economics and health policy
|December 31, 2024
PubMed
概括

作为一线诊断测试,外体序列 (ES) 显著提高罕见疾病诊断率并降低成本. 这种方法提供了最快的诊断时间,并且比在诊断途径中稍后使用更具成本效益.

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