【佳學(xué)基因檢測(cè)】1型神經(jīng)纖維瘤病的分子診斷：2年經(jīng)驗(yàn)

基因檢測(cè)多少錢一次—共識(shí)

參加學(xué)術(shù)會(huì)議時(shí)高效抑制腫瘤轉(zhuǎn)移的方法與藥物獲悉《Fam Cancer》在.?2007;6(1):21-34.發(fā)表了一篇題目為《1型神經(jīng)纖維瘤病的分子診斷：2年經(jīng)驗(yàn)》腫瘤靶向藥物治療基因檢測(cè)臨床研究文章。該研究由Sian Griffiths?,?Peter Thompson,?Ian Frayling,?Meena Upadhyaya等完成。促進(jìn)了腫瘤的正確治療與個(gè)性化用藥的發(fā)展，進(jìn)一步強(qiáng)調(diào)了基因信息檢測(cè)與分析的重要性。

推廣使用腫瘤基因檢測(cè)的收入來源分析關(guān)鍵詞：

FISH,dHPLC,MLPA,編碼區(qū),側(cè)翼剪接位點(diǎn),NF1,診斷測(cè)試

腫瘤靶向治療基因檢測(cè)臨床應(yīng)用結(jié)果

佳學(xué)基因介紹了作為英國(guó)基因檢測(cè)網(wǎng)絡(luò) (UKGTN) 的一部分提供 NF1 基因檢測(cè)，診斷性突變檢測(cè)服務(wù)的經(jīng)驗(yàn)。在 2 年期間，共有 169 名懷疑患有 I 型神經(jīng)纖維瘤病 (NF1) 的無關(guān)個(gè)體被三甲醫(yī)院醫(yī)生介紹進(jìn)行 NF1 診斷性基因檢測(cè)、基因測(cè)試。對(duì)整個(gè) NF1 編碼區(qū)和側(cè)翼剪接位點(diǎn)進(jìn)行了突變分析，包括使用 FISH、dHPLC 和 MLPA 的組合。在 109 例 (64%) 病例中發(fā)現(xiàn)了可能引起疾病的突變。這些包括 88 種不同的序列改變，其中 57 種是新的。在轉(zhuǎn)診的169例中，有102例臨床資料高效，其中78例符合NIH對(duì)NF1的診斷標(biāo)準(zhǔn)。在這個(gè)更明確的 NF1 患者隊(duì)列中，在 61 人（78%）中發(fā)現(xiàn)了 NF1 突變，顯示了臨床選擇對(duì)整體測(cè)試敏感性的重要性，并突出了在日常服務(wù)檢查中全面收集臨床數(shù)據(jù)的問題。隨著突變檢測(cè)技術(shù)的進(jìn)步，促進(jìn)對(duì) NF1 基因的所有編碼區(qū)和側(cè)翼非編碼區(qū)的直接測(cè)序，討論了為未來檢測(cè) NF1 開發(fā)一種更具成本效益、快速和靈敏的診斷測(cè)試。

腫瘤發(fā)生與反復(fù)轉(zhuǎn)移國(guó)際數(shù)據(jù)庫描述：

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.