【佳学基因检测】用于视网膜色素变性分子诊断的靶向基因捕获测序组的系统评价

做基因检测多少钱资源

深究肿瘤分子诊断与基因分析明白《Anal Bioanal Chem》在 2020; 412(28): 7685–7699发表了一篇题目为《用于视网膜色素变性分子诊断的靶向基因捕获测序组的系统评价》肿瘤靶向药物治疗基因检测临床研究文章。该研究由Yingzhu Feng,等完成。促进了肿瘤的精准治疗与个性化用药的发展，进一步强调了基因信息检测与分析的重要性。

肿瘤靶向药物及精准治疗临床研究内容关键词：

遗传性眼病,视力丧失,临床变异性,遗传异质性,基因检测,靶向基因捕获

肿瘤靶向治疗基因检测临床应用结果

背景：遗传性眼病是儿童和成人视力丧失的主要原因。遗传性眼病的特点是临床变异性和明显的遗传异质性。基因检测可以为眼科遗传疾病提供准确的诊断，并允许对特定疾病进行基因治疗。MethodsA 靶向基因捕获面板旨在捕获 283 个遗传性眼病基因的外显子，其中包括 58 个已知的致病性色素性视网膜炎 (RP) 基因。使用该面板测试了 180 个样本，其中 68 个之前通过 Sanger 测序进行了测试。对99例RP患者进行了系统评价和综合分子诊断。结果：96.85%的靶区被至少20倍覆盖，变异检测准确率为99.994%。在先前通过 Sanger 测序检测的 68 份样本中，有 4 份通过下一代测序（NGS）而非 Sanger 检测到了与临床诊断不符的其他疾病的突变。 99例RP患者中，64例（64.6%）检出致病性突变，3例患者分子诊断与初步临床诊断不一致。重访后，一名患者的临床诊断被重新分类。此外，还发现 3 名患者携带大量缺失。结论我们系统地评估了我们的方法并将其与 Sanger 测序进行了比较，并在 99 名 RP 患者的队列中发现了大量新突变。结果表明我们的方法具有足够的准确性，并表明分子诊断在临床诊断中的重要性。

肿瘤发生与复发转移国际数据库描述：

Background:Inherited eye diseases are major causes of vision loss in both children and adults. Inherited eye diseases are characterized by clinical variability and pronounced genetic heterogeneity. Genetic testing may provide an accurate diagnosis for ophthalmic genetic disorders and allow gene therapy for specific diseases.MethodsA targeted gene capture panel was designed to capture exons of 283 inherited eye disease genes including 58 known causative retinitis pigmentosa (RP) genes. 180 samples were tested with this panel, 68 were previously tested by Sanger sequencing. Systematic evaluation of our method and comprehensive molecular diagnosis were carried on 99 RP patients.Results:96.85% targeted regions were covered by at least 20 folds, the accuracy of variants detection was 99.994%. In 4 of the 68 samples previously tested by Sanger sequencing, mutations of other diseases not consisting with the clinical diagnosis were detected by next-generation sequencing (NGS) not Sanger. Among the 99 RP patients, 64 (64.6%) were detected with pathogenic mutations, while in 3 patients, it was inconsistent between molecular diagnosis and their initial clinical diagnosis. After revisiting, one patient’s clinical diagnosis was reclassified. In addition, 3 patients were found carrying large deletions.ConclusionsWe have systematically evaluated our method and compared it with Sanger sequencing, and have identified a large number of novel mutations in a cohort of 99 RP patients. The results showed a sufficient accuracy of our method and suggested the importance of molecular diagnosis in clinical diagnosis.

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