Development of Criteria for Epilepsy Genetic Testing in Ontario, Canada

PuneetJain; DanielleAndrade; ElizabethDonner; DavidDyment; Asuri N.Prasad; SharanGoobie; KymBoycott; MatthewLines; O. CarterSnead

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Development of Criteria for Epilepsy Genetic Testing in Ontario, Canada

机译：加拿大安大略省癫痫基因检测标准的制定

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Multiple genes/variants have been implicated in various epileptic conditions. However, there is little general guidance available on the circumstances in which genetic testing is indicated and test selection in order to guide optimal test appropriateness and benefit. This is an account of the development of guidelines for genetic testing in epilepsy, which have been developed in Ontario, Canada. The Genetic Testing Advisory Committee was established in Ontario to review the clinical utility and validity of genetic tests and the provision of genetic testing in Ontario. As part of their mandate, the committee also developed recommendations and guidelines for genetic testing in epilepsy. The recommendations include mandatory prerequisites for an epileptology/geneticist/clinical biochemical geneticist consultation, prerequisite diagnostic procedures, circumstances in which genetic testing is indicated and not indicated and guidance for selection of genetic tests, including their general limitations and considerations. These guidelines represent a step toward the development of evidence-based gene panels for epilepsy in Ontario, the repatriation of genetic testing for epilepsy into Ontario molecular genetic laboratories and public funding of genetic tests for epilepsy in Ontario.

机译：多种基因/变体涉及各种癫痫病症。但是，在指示和测试选择的情况下，遗传测试的情况几乎没有一般指导，以指导最佳测试适当性和益处。这是在加拿大安大略省开发的癫痫遗传检测指南的制定的叙述。遗传检测咨询委员会成立于安大略省，审查遗传试验的临床实用性和有效性以及安大略省在安大略省提供遗传检测。作为其任务的一部分，委员会还制定了癫痫中的遗传检测建议和指导方针。该建议包括癫痫术/遗传学家/临床生化遗传学家咨询，先决条件诊断程序，遗传检测所指出的情况和未指出遗传测试的指导，包括其遗传测试的概况，包括其普遍局限性和考虑因素的遗传检测的情况。这些指导方针代表了在安大略省在安大略省的癫痫的基于癫痫基因面板的阶段，归还对安大略省分子遗传实验室的遗传学检测和安大略省癫痫遗传检测的公共资金。

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来源
《The Canadian Journal of Neurological Sciences: le Journal Canadien des Sciences Neurologiques》 |2019年第1期|共7页
作者
PuneetJain; DanielleAndrade; ElizabethDonner; DavidDyment; Asuri N.Prasad; SharanGoobie; KymBoycott; MatthewLines; O. CarterSnead;
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作者单位

University of Toronto;

University of Toronto;

University of Toronto;

University of Ottawa;

Western University;

Western University;

University of Ottawa;

University of Ottawa;

University of Toronto;

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正文语种 eng
中图分类神经病学与精神病学;
关键词
Refractory epilepsy; Next-generation sequencing; Whole-exome sequencing; Genetics; Epilepsy;

机译：难治性癫痫;下一代测序;全外膜测序;遗传;癫痫;

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机译：加拿大安大略省癫痫基因检测标准的制定
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机译：安大略省东南部遗传性乳腺癌和卵巢癌综合征高危人群的入选标准和基因检测结果
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机译：利用简单的性能测试在加拿大第1阶段SuperPave混合标准的发展中的开发
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机译：为地方一级的可持续森林管理制定和测试标准和指标体系。加拿大哈利伯顿森林和野生动物保护区有限公司的案例研究。
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机译：加拿大安大略省腮腺炎暴发期间的实验室检测和系统发育分析
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Development of Criteria for Epilepsy Genetic Testing in Ontario, Canada

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