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.
產(chǎn)品描述
CleanPlex®Nemaline肌病面板是一種預(yù)先設(shè)計(jì)和定制的多重PCR /基于擴(kuò)增子的靶向測序（NGS）分析方法，旨在檢查與Nemaline肌病相關(guān)的13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(cè)翼內(nèi)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(jìn)行準(zhǔn)備。預(yù)先設(shè)計(jì)的面板經(jīng)過計(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。
貯存溫度
儲存在-20°C。
僅供研究使用。不用于診斷過程。
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.