Product Description
The CleanPlex® Cornelia de Lange Syndrome (CdLS) 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 9 genes associated with Cornelia de Lange Syndrome (CdLS). 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.
產(chǎn)品描述
CleanPlex®Cornelia de Lange綜合征（CdLS）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(cè)序（NGS）分析方法，旨在檢查與Cornelia de Lange相關(guān)的9個(gè)基因的種系變異或突變綜合癥（CdLS）。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，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文庫的工作流程。
Storage Temperature
Store at -20 °C.
For Research Use Only. Not for use in diagnostic procedures.
Gene List:
AFF4, ANKRD11, HDAC8, KMT2A, NIPBL, RAD21, SMC1A, SMC3, TAF6
References:
Boyle MI, et al. Cornelia de Lange syndrome. Clin Genet. 2015 Jul;88(1):1-12.
Levin et al. Ophthalmologic findings in the Cornelia de Lange syndrome. J Pediatr Ophthalmol Strabismus. 1990;27:94–102.
Selicorni et al. Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation. Clin Genet. 2007;72:98–108.
Ockeloen CW, et al. Further delineation of the KBG syndrome caused by ANKRD11 aberrations. Eur J Hum Genet. 2015 Sep;23(9):1270.