CleanPlex® Nephronophthisis Panel

产品描述

CleanPlex®Nephronophthisis面板是一种预先设计和定制的基于多重PCR /扩增子的靶向测序（NGS）分析方法，旨在检查与Nephronophthisis相关的32个基因的种系变异或突变。该小组针对这些基因的所有外显子区域和侧翼内含子序列。仅需10 ng DNA即可兼容测序就绪的文库，只需3个小时即可使用简化的工作流程进行准备。预先设计的面板经过计算机优化，可提供具有高目标性能和高覆盖均匀性的数据，以确保有效利用测序读数。

该产品是定做的。收到您的订单后，我们将合成面板，该套件将包含CleanPlex Multiplex PCR引物和CleanPlex Targeted Library Kit。可以分别订购CleanPlex索引PCR引物和CleanMag®磁珠，以完成从输入DNA到可测序的NGS文库的工作流程。

Gene List: 
AHI1, ANKS6, CC2D2A, CEP164, CEP290, CEP41, CEP83, DCDC2, FAN1, GLIS2, IFT172, INVS, IQCB1, MAPKBP1, NEK8, NPHP1, NPHP3, NPHP4, OFD1, PKHD1, RPGRIP1L, SDCCAG8, TCTN1, TMEM138, TMEM216, TMEM237, TMEM67, TRAF3IP1, TTC21B, WDR19, XPNPEP3, ZNF423

References: 
Otto EA, et al. Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategyJournal of Medical Genetics 2011;48:105-116.

Schueler M, et al. Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathiesJournal of Medical Genetics 2016;53:208-214.

Renkema K, et al. Next-generation sequencing for research and diagnostics in kidney disease. Nat Rev Nephrol 10, 433–444 (2014).

Brown EJ, et al. Genetic testing for nephrotic syndrome and FSGS in the era of next-generation sequencing. Kidney International. 2014;85(5):1030-1038.