CleanPlex Dystonia Comprehensive Panel
CleanPlex Dystonia Comprehensive Panel
CleanPlex Dystonia Comprehensive Panel
产品描述
CleanPlex?肌张力障碍综合评估是一种预先设计的，定制的，基于多重PCR /扩增子的靶向测序（NGS）分析方法，旨在检查与肌张力障碍综合症相关的37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。
贮存温度
储存在-20°C。
仅供研究使用。不用于诊断过程。
Gene List:
ADAR, ADCY5, ANO3, ARSA, ATM, ATP1A3, ATP7B, BCAP31, CACNA1B, CIZ1, DCAF17, FA2H, FTL, GCDH, GCH1, GNAL, HPCA, KCNMA1, KCTD17, KMT2B, PANK2, PDGFB, PLA2G6, PNKD, PRKN, PRKRA, PRRT2, SGCE, SLC2A1, SLC6A3, SPR, TH, THAP1, TIMM8A, TOR1A, TUBB4A, VPS13A
References:
Reale C, et al. The relevance of gene panels in movement disorders diagnosis: A lab perspective. European Journal of Paediatric Neurology. 2018; 22(2):285-291.
Lohmann K, et al. Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia. JAMA Neurol. 2017;74(7):806–812.
Jinnah HA, et al. Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing. Journal of Neural Transmission. 2017; 124(4):417-430.
Dorschner M. Next-Generation Sequencing for Gene Panels. Genomic Applications in Pathology. 2018: 191-202.