產(chǎn)品描述
CleanPlex®Nephronophthisis面板是一種預(yù)先設(shè)計(jì)和定制的基于多重PCR /擴(kuò)增子的靶向測(cè)序（NGS）分析方法，旨在檢查與Nephronophthisis相關(guān)的32個(gè)基因的種系變異或突變。該小組針對(duì)這些基因的所有外顯子區(qū)域和側(cè)翼內(nèi)含子序列。僅需10 ng DNA即可兼容測(cè)序就緒的文庫(kù)，只需3個(gè)小時(shí)即可使用簡(jiǎn)化的工作流程進(jìn)行準(zhǔn)備。預(yù)先設(shè)計(jì)的面板經(jīng)過(guò)計(jì)算機(jī)優(yōu)化，可提供具有高目標(biāo)性能和高覆蓋均勻性的數(shù)據(jù)，以確保有效利用測(cè)序讀數(shù)。
該產(chǎn)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(gòu)CleanPlex索引PCR引物和CleanMag®磁珠，以完成從輸入DNA到可測(cè)序的NGS文庫(kù)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.