Molecular testing for hereditary retinal disease as part of clinical care
Molecular testing for hereditary retinal disease as part of clinical care
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DOI：
10.1001/archopht.125.2.252
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发表时间：
2007-02-01
影响因子：
--
通讯作者：
Ayyagari, Radha
中科院分区：
文献类型：
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作者：
Downs, Katy;Zacks, David N.;Ayyagari, Radha
目的：描述遗传性视网膜变性的临床分子检测，突出显示结果，解释，和病人education.Methods：8视网膜基因突变分析进行双脱氧测序。对患者进行了测试前和测试后的遗传咨询。实验室报告列出的结果，并提供个性化的interpretation.Results：共进行了350次测试。在266项诊断测试中，有133项确定了疾病的分子基础;在其余133项诊断测试中未确定致病突变。预测和载体测试要求9和75名无症状的患者与已知的家族突变，foreign.Conclusions：分子检测可以确认临床诊断，确定携带者的状态，并确认或排除存在的家族性突变在无症状的风险亲属。由于致病突变不能确定在所有患者的视网膜疾病，这是必不可少的，患者咨询前测试有关的好处和局限性，这一新兴的诊断tolerance.Clinical Relevance：疾病的遗传基础的分子定义提供了一个独特的辅助遗传性视网膜变性患者的临床护理。
Objective: To describe clinical molecular testing for hereditary retinal degenerations, highlighting results, interpretation, and patient education.Methods: Mutation analysis of 8 retinal genes was performed by dideoxy sequencing. Pretest and posttest genetic counseling was offered to patients. The laboratory report listed results and provided individualized interpretation.Results: A total of 350 tests were performed. The molecular basis of disease was determined in 133 of 266 diagnostic tests; the disease-causing mutations were not identified in the remaining 133 diagnostic tests. Predictive and carrier tests were requested for 9 and 75 nonsymptomatic patients with known familial mutations, respectively.Conclusions: Molecular testing can confirm a clinical diagnosis, identify carrier status, and confirm or rule out the presence of a familial mutation in nonsymptomatic at-risk relatives. Because causative mutations cannot be identified in all patients with retinal diseases, it is essential that patients are counseled before testing regarding the benefits and limitations of this emerging diagnostic tool.Clinical Relevance: The molecular definition of the genetic basis of disease provides a unique adjunct to the clinical care of patients with hereditary retinal degenerations.