Product Description
The CleanPlex® Leber Congenital Amaurosis 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 29 genes associated with Leber Congenital Amaurosis. 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®Leber先天性阿瑪魯病專家小組是一種預(yù)先設(shè)計和定制的多重PCR /基于擴(kuò)增子的靶向測序（NGS）分析法，旨在檢查與Leber先天性阿瑪魯病癥相關(guān)的29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)計的面板經(jīng)過計算機(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:
AIPL1, ALMS1, CABP4, CEP290, CNGA3, CRB1, CRX, DTHD1, GDF6, GUCY2D, IMPDH1, INPP5E, IQCB1, KCNJ13, LCA5, LRAT, MERTK, MYO7A, NMNAT1, OTX2, PRPH2, RD3, RDH12, RDH5, RPE65, RPGRIP1, SNRNP200, SPATA7, TULP1
References:
Kohl S, et al. A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. Am J Hum Genet. 2012 Sep 7;91(3):527-32.
Wang H, et al. Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. Invest Ophthalmol Vis Sci. 2015 Jun;56(6):3642-55.
Chen Y, et al. Comprehensive mutation analysis by whole-exome sequencing in 41 Chinese families with Leber congenital amaurosis. Invest Ophthalmol Vis Sci. 2013 Jun 26;54(6):4351-7.