在继承了多神经病Target-Enrichment测序和拷贝数评价(S44.008)

文摘

摘要目的:继承了多神经病很难诊断。我们想要评估的效率综合target-enrichment下一代测序(上天)在临床实用程序使用一个新创建的算法,包括拷贝数的评估。背景:多神经病是常见的总患病率为1.7 (percnt)和6.6 (percnt) 60岁以上的人之一。患病率高,多个损伤和复杂的诊断程序导致医疗成本高。分离继承获得是很困难的对于阴险的成人发病情况。方法:197多神经病面板是用来评估突变基因在93年继承或特发性神经病变病例没有已知的遗传原因。我们应用我们的小说CNV算法门店数据,和验证所确定的拷贝数变异使用CytoScan (Affymetrix)。成本和效果的目标总会方法早些时候相比,评估和改进算法。结果:平均深度报道~ 760 x(值= 600,99.4 x [percnt] > 100)。93名患者中,18个突变被发现在17例(18 [percnt])包括3拷贝数变异:两个PMP22-duplications MPZ-duplication之一。 The two patients with PMP22-duplication presented with bulbar and respiratory involvements and had absent extremity nerve conductions, leading to axonal diagnosis. Average onset age of these 17 cases was 25 years (2-61yrs), versus 45 years for those without genetic discovery. Among those with less than 40 years onset age, the diagnostic yield of targeted NGS approach is high (27[percnt]) and cost savings by a proposed algorithm significant (~20[percnt]). However, the cost savings for patients with late onset age and without family history is not demonstrated. CONCLUSIONS: Incorporating copy number analysis in comprehensive genetic target-enrichment NGS approach improved the efficiency of mutation discovery for chronic inherited progressive length-dependent polyneuropathy diagnosis. The new technology will facilitate a simplified genetic diagnostic algorithm utilizing targeted NGS, clinical phenotypes, onset age and family history to improve diagnosis efficiency.

披露:Klein博士没有披露。王博士没有披露。王博士没有披露。道森博士没有披露。埃里克博士没有披露。伦德奎斯特博士没有披露。Eckloff博士没有披露。吴博士没有披露。Baheti博士没有披露。埃文斯博士没有披露。 Dr. Scherer has received personal compensation for activities with Simon-Kucher & Partners LLC as a consultant. Dr. Dyck has nothing to disclose.