【佳学基因检测】1型神经纤维瘤病的分子诊断：2年经验

基因检测多少钱一次—共识

参加学术会议时高效抑制肿瘤转移的方法与药物获悉《Fam Cancer》在. 2007;6(1):21-34.发表了一篇题目为《1型神经纤维瘤病的分子诊断：2年经验》肿瘤靶向药物治疗基因检测临床研究文章。该研究由Siân Griffiths , Peter Thompson, Ian Frayling, Meena Upadhyaya等完成。促进了肿瘤的正确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。

推广使用肿瘤基因检测的收入来源分析关键词：

FISH,dHPLC,MLPA,编码区,侧翼剪接位点,NF1,诊断测试

肿瘤靶向治疗基因检测临床应用结果

佳学基因介绍了作为英国基因检测网络 (UKGTN) 的一部分提供 NF1 基因检测，诊断性突变检测服务的经验。在 2 年期间，共有 169 名怀疑患有 I 型神经纤维瘤病 (NF1) 的无关个体被三甲医院医生介绍进行 NF1 诊断性基因检测、基因测试。对整个 NF1 编码区和侧翼剪接位点进行了突变分析，包括使用 FISH、dHPLC 和 MLPA 的组合。在 109 例 (64%) 病例中发现了可能引起疾病的突变。这些包括 88 种不同的序列改变，其中 57 种是新的。在转诊的169例中，有102例临床资料高效，其中78例符合NIH对NF1的诊断标准。在这个更明确的 NF1 患者队列中，在 61 人（78%）中发现了 NF1 突变，显示了临床选择对整体测试敏感性的重要性，并突出了在日常服务检查中全面收集临床数据的问题。随着突变检测技术的进步，促进对 NF1 基因的所有编码区和侧翼非编码区的直接测序，讨论了为未来检测 NF1 开发一种更具成本效益、快速和灵敏的诊断测试。

肿瘤发生与反复转移国际数据库描述：

Our experience of providing an NF1 gene diagnostic mutation detection service as part of the U.K. Genetic Testing Network (UKGTN) is presented. A total of 169 unrelated individuals suspected of having neurofibromatosis type I (NF1) were referred for NF1 diagnostic testing over a 2 year period. Mutation analysis of the entire NF1 coding region and the flanking splice sites was carried out, and included the use of a combination of FISH, dHPLC and MLPA. Possible disease causing mutations were identified in 109 (64%) cases. These comprised 88 different sequence alterations, of which 57 were novel. Out of the 169 cases referred, there were 102 patients with reliable clinical data, of whom 78 satisfied the NIH diagnostic criteria for NF1. Within this better defined cohort of NF1 patients, NF1 mutations were identified in 61 individuals (78%), showing the importance of clinical selection on overall test sensitivity, and highlighting the problem of full clinical data collection in the audit of routine services. As mutation detection technologies advance, facilitating direct sequencing of all coding and flanking non-coding regions of the NF1 gene, the development of an even more cost-effective, quick and sensitive diagnostic test for future testing of NF1 is discussed.