A Panel-Based Approach to the Diagnosis of Genetic Nephropathies Utilizing Next G

描述（由申请人提供）：目前有超过200个基因的突变被描述为导致肾脏疾病。目前用于诊断遗传性肾病的策略极其昂贵且耗时。我们的目标是开发一个全面的下一代测序面板，可以同时测试所有目前描述的肾脏相关的基因突变，在大约2周内以低廉的价格。目前在肾脏病学领域没有商业上可获得的综合基因面板。我们相信这种检测方法将大大减少疾病诊断的周转时间和成本。一旦肾脏病基因组被开发出来，我们将用它来描述一个大型的不明原因慢性肾脏病患者队列的基因型-表型相关性。我们将隔离 从去识别的肾活检样品中提取DNA，并使用这些样品进行靶富集、扩增和标记我们的组中的基因外显子，然后在MiSeq上测序。我们将与行业领先的测序软件包制造商DNAStar密切合作，开发针对临床下一代测序的检测软件管道。在完成和验证后，我们将提供作为CLIA认证的检测方法，用于诊断遗传性肾病。

DESCRIPTION (provided by applicant): There are currently mutations in over 200 genes that have been described to cause kidney disease. Current strategies for diagnosis of genetic kidney disease are extremely costly and time consuming. We aim to develop a comprehensive next generation sequencing panel that can simultaneously test for all currently described kidney- associated gene mutations at a low price within approximately 2 weeks. There are currently no comprehensive gene panels commercially available in the field of nephrology. We believe this assay will greatly decrease turnaround time and cost for the diagnosis of disease. Once the nephrology gene panel is developed, we will use it to describe genotypic-phenotypic correlations in a large cohort of patients with unexplained chronic kidney disease. We will isolate DNA from de-identified renal biopsy samples and use these samples for target enrichment, amplification and labeling of the exons of genes in our panel followed by sequencing on a MiSeq. We will work closely with DNAStar, makers of an industry-leading sequencing software package, in development of a software pipeline for the assay targeted towards clinical next generation sequencing. Upon completion and validation we will offer the test as a CLIA-certified assay for the diagnosis of hereditary kidney disease.