產品描述

CleanPlex®Nephronophthisis面板是一種預先設計和定制的基于多重PCR /擴增子的靶向測序（NGS）分析方法，旨在檢查與Nephronophthisis相關的32個基因的種系變異或突變。該小組針對這些基因的所有外顯子區(qū)域和側翼內含子序列。僅需10 ng DNA即可兼容測序就緒的文庫，只需3個小時即可使用簡化的工作流程進行準備。預先設計的面板經(jīng)過計算機優(yōu)化，可提供具有高目標性能和高覆蓋均勻性的數(shù)據(jù)，以確保有效利用測序讀數(shù)。

該產品是定做的。收到您的訂單后，我們將合成面板，該套件將包含CleanPlex Multiplex PCR引物和CleanPlex Targeted Library Kit。可以分別訂購CleanPlex索引PCR引物和CleanMag®磁珠，以完成從輸入DNA到可測序的NGS文庫的工作流程。

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.