Product Description
The CleanPlex® Nemaline Myopathy Panel is a pre-designed and made-to-order multiplex PCR / amplicon-based targeted sequencing (NGS) assay designed to examine the germline variants or mutations across 13 genes associated with Nemaline Myopathy. The panel targets all the exonic regions of those genes and the flanking intronic sequences. Compatible with just 10 ng of DNA, sequencing-ready libraries can be prepared using a streamlined workflow in just 3 hours. The pre-designed panel is optimized in silico to deliver data with high on-target performance and high coverage uniformity to ensure efficient use of sequencing reads.
This product is made to order. Once we receive your order, we will synthesize the panel and the kit will contain CleanPlex Multiplex PCR Primers and CleanPlex Targeted Library Kit. CleanPlex Indexed PCR Primers and CleanMag® Magnetic Beads can be ordered separately to complete the workflow from input DNA to sequencing-ready NGS libraries.
Storage Temperature
Store at -20 °C.
For Research Use Only. Not for use in diagnostic procedures.
产品描述
CleanPlex®Nemaline肌病面板是一种预先设计和定制的多重PCR /基于扩增子的靶向测序（NGS）分析方法，旨在检查与Nemaline肌病相关的13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:
ACTA1, BIN1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, MTM1, MYPN, NEB, TNNT1, TPM2, TPM3
References:
Ryan MM, et al. Nemaline myopathy: a clinical study of 143 cases. Ann Neurol. 2001 Sep;50(3):312-20.
Ong et al. Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy. J Neurol Neurosurg Psychiatry. 2014;85:1058–60.
North K.N. and Ryan M.M. Nemaline Myopathy. Pagon RA, Adam MP, Ardinger HH, et al., editors. Seattle (WA): University of Washington, Seattle; 1993-2017.
Anderson et al. Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. Hum Genet. 2004;115:185–90.
Donner et al. Mutations in the beta-tropomyosin (TPM2) gene–a rare cause of nemaline myopathy. Neuromuscul Disord. 2002;12:151–8.
Lehtokari VL, et al. Mutation update: the spectra of nebulin variants and associated myopathies. Hum Mutat. 2014 Dec;35(12):1418-26.
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