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年轻人群意外自然猝死的基因检测:纽约市首席法医办公室的经验与观点

Genetic testing in sudden unexpected natural death in the young: New York City Office of Chief Medical Examiner's experience and perspective.

作者信息

Tang Yingying, Williams Nori, Sampson Barbara A

机构信息

Molecular Genetics Laboratory, Office of Chief Medical Examiner, 421 East 26th Street, New York, NY, 10016, USA.

Forensic Pathology Department, Office of Chief Medical Examiner, New York, NY, USA.

出版信息

Forensic Sci Med Pathol. 2019 Sep;15(3):481-484. doi: 10.1007/s12024-018-0068-6. Epub 2018 Dec 7.

Abstract

Postmortem genetic testing is a diagnostic tool that is becoming increasingly utilized. The benefits and limitations of genetic testing in cases of sudden, unexpected death in the young (≤ 40 years old) are reviewed from the perspective of the Office of Chief Medical Examiner of the City of New York, whose Molecular Genetics Laboratory, accredited by College of American Pathologists, has had 15 years of postmortem testing experience. Challenges to the interpretation and communication of testing results are highlighted, and opportunities for improving testing yield are discussed for age groups across the lifespan, from infancy to adulthood.

摘要

尸检基因检测是一种越来越常用的诊断工具。从纽约市首席法医办公室的角度,对年轻(≤40岁)人群突发意外死亡病例中基因检测的益处和局限性进行了综述。该办公室的分子遗传学实验室获得了美国病理学家学会的认可,拥有15年的尸检检测经验。文中强调了检测结果解读和沟通方面的挑战,并讨论了从婴儿期到成年期各年龄段提高检测阳性率的机会。

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