【佳學基因檢測】用于視網膜色素變性分子診斷的靶向基因捕獲測序組的系統(tǒng)評價

做基因檢測多少錢資源

深究腫瘤分子診斷與基因分析明白《Anal Bioanal Chem》在?2020; 412(28): 7685–7699發(fā)表了一篇題目為《用于視網膜色素變性分子診斷的靶向基因捕獲測序組的系統(tǒng)評價》腫瘤靶向藥物治療基因檢測臨床研究文章。該研究由Yingzhu Feng,等完成。促進了腫瘤的正確治療與個性化用藥的發(fā)展，進一步強調了基因信息檢測與分析的重要性。

腫瘤靶向藥物及正確治療臨床研究內容關鍵詞：

遺傳性眼病,視力喪失,臨床變異性,遺傳異質性,基因檢測,靶向基因捕獲

腫瘤靶向治療基因檢測臨床應用結果

背景：遺傳性眼病是兒童和成人視力喪失的主要原因。遺傳性眼病的特點是臨床變異性和明顯的遺傳異質性?；驒z測可以為眼科遺傳疾病提供正確的診斷，并允許對特定疾病進行基因治療。MethodsA 靶向基因捕獲面板旨在捕獲 283 個遺傳性眼病基因的外顯子，其中包括 58 個已知的致病性色素性視網膜炎 (RP) 基因。使用該面板測試了 180 個樣本，其中 68 個之前通過 Sanger 測序進行了測試。對99例RP患者進行了系統(tǒng)評價和綜合分子診斷。結果：96.85%的靶區(qū)被至少20倍覆蓋，變異檢測正確率為99.994%。在先前通過 Sanger 測序檢測的 68 份樣本中，有 4 份通過下一代測序（NGS）而非 Sanger 檢測到了與臨床診斷不符的其他疾病的突變。 99例RP患者中，64例（64.6%）檢出致病性突變，3例患者分子診斷與初步臨床診斷不一致。重訪后，一名患者的臨床診斷被重新分類。此外，還發(fā)現 3 名患者攜帶大量缺失。結論我們系統(tǒng)地評估了我們的方法并將其與 Sanger 測序進行了比較，并在 99 名 RP 患者的隊列中發(fā)現了大量新突變。結果表明我們的方法具有足夠的正確性，并表明分子診斷在臨床診斷中的重要性。

腫瘤發(fā)生與反復轉移國際數據庫描述：

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.