PDF(Pubmed)
Abstract：
The options for genetic testing continue to grow for ocular conditions, including optic atrophy, anterior segment dysgenesis, cataracts, corneal dystrophy, nystagmus, and glaucoma. Gene panels can vary in content and coverage, as we and others have evaluated in inherited retinal disease (IRD).
To describe gene panel testing options for inherited eye disease phenotypes and their differences. This review is important for making diagnostic decisions.
A licensed, certified genetic counselor (RP) used Concert Genetics and the search terms optic atrophy, corneal dystrophy, cataract, glaucoma, anterior segment dysgenesis, microphthalmia/anophthalmia, and nystagmus to identify available testing options performed by CLIA-certified commercial genetic testing laboratories. Other co-authors were surveyed with respect to genetic panels used for the indications of interest. Ophthalmic panels were then compared using Concert Genetics in addition to their own websites.
Panels from each clinical category were included and summarized. This comparison highlighted the differences and similarities between panels so that clinicians can make informed decisions.
Access to genetic testing is increasing. The diagnostic yield of genetic testing is increasing. Each panel is different, so phenotyping or characterizing clinical characteristics that may help predict a specific genotype, as well as pre-test hypotheses regarding a genotype, should shape the choice of panels.
To describe gene panel testing options for inherited eye disease phenotypes and their differences. This review is important for making diagnostic decisions.
A licensed, certified genetic counselor (RP) used Concert Genetics and the search terms optic atrophy, corneal dystrophy, cataract, glaucoma, anterior segment dysgenesis, microphthalmia/anophthalmia, and nystagmus to identify available testing options performed by CLIA-certified commercial genetic testing laboratories. Other co-authors were surveyed with respect to genetic panels used for the indications of interest. Ophthalmic panels were then compared using Concert Genetics in addition to their own websites.
Panels from each clinical category were included and summarized. This comparison highlighted the differences and similarities between panels so that clinicians can make informed decisions.
Access to genetic testing is increasing. The diagnostic yield of genetic testing is increasing. Each panel is different, so phenotyping or characterizing clinical characteristics that may help predict a specific genotype, as well as pre-test hypotheses regarding a genotype, should shape the choice of panels.
摘要：
目的：眼部疾病的基因检测选择不断增加，包括视神经萎缩,眼前节发育不全，白内障,角膜营养不良,眼球震颤,和青光眼。基因面板的内容和覆盖范围可能有所不同，正如我们和其他人对遗传性视网膜疾病（IRD）的评估。
目的：描述遗传性眼病表型的基因小组检测方案及其差异。这篇评论对于做出诊断决策很重要。
方法：获得许可，认证遗传咨询师(RP)使用ConcertGenetics和搜索词视神经萎缩，角膜营养不良,白内障,青光眼,眼前节发育不全，小眼症/无眼症，和眼球震颤，以确定由CLIA认证的商业基因检测实验室执行的可用检测选项。其他合著者就用于感兴趣的适应症的遗传小组进行了调查。然后，除了自己的网站外，还使用ConcertGenetics对眼科小组进行了比较。
结果：包括并总结了来自每个临床类别的小组。这种比较突出了小组之间的差异和相似性，以便临床医生可以做出明智的决定。
结论：获得基因检测的机会正在增加。基因检测的诊断率正在增加。每个面板都不同，所以表型或表征临床特征可能有助于预测特定的基因型，以及关于基因型的预测试假设，应该塑造面板的选择。
目的：描述遗传性眼病表型的基因小组检测方案及其差异。这篇评论对于做出诊断决策很重要。
方法：获得许可，认证遗传咨询师(RP)使用ConcertGenetics和搜索词视神经萎缩，角膜营养不良,白内障,青光眼,眼前节发育不全，小眼症/无眼症，和眼球震颤，以确定由CLIA认证的商业基因检测实验室执行的可用检测选项。其他合著者就用于感兴趣的适应症的遗传小组进行了调查。然后，除了自己的网站外，还使用ConcertGenetics对眼科小组进行了比较。
结果：包括并总结了来自每个临床类别的小组。这种比较突出了小组之间的差异和相似性，以便临床医生可以做出明智的决定。
结论：获得基因检测的机会正在增加。基因检测的诊断率正在增加。每个面板都不同，所以表型或表征临床特征可能有助于预测特定的基因型，以及关于基因型的预测试假设，应该塑造面板的选择。
