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现在位置首页>实验室服务>实验室服务>测序服务>CleanPlex Early Infantile Epileptic Encephalopathy Panel
CleanPlex Early Infantile Epileptic Encephalopathy Panel
CleanPlex Early Infantile Epileptic Encephalopathy Panel
  • CleanPlex Early Infantile Epileptic Encephalopathy Panel

CleanPlex Early Infantile Epileptic Encephalopathy Panel

产品报价:询价

更新时间:2023/4/3 18:11:18

地:美国

牌:PARAGON GENOMICS

号:CleanPlex

厂商性质: 生产型,

公司名称: 世联博研(北京)科技有限公司

产品关键词: 早期婴儿癫痫性脑病Panel   早期婴儿癫痫性脑病   Early Infantile NGS   Early Infantile Epileptic Ence   CleanPlex Early Infantile Epil  

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CleanPlex Early Infantile Epileptic Encephalopathy Panel

CleanPlex Early Infantile Epileptic Encephalopathy Panel

CleanPlex Early Infantile Epileptic Encephalopathy Panel

产品描述

CleanPlex?早期婴儿癫痫性脑病小组基因评估是一种预先设计和定制的,基于多重PCR /扩增子的靶向测序(NGS)分析方法,旨在检查与早期婴儿癫痫性脑病相关的87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: 

ADSL, ALDH7A1, ALG13, ARHGEF9, ARX, BRAT1, CACNA1A, CASK, CDKL5, CHD2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CTSD, DEPDC5, DNM1, DOCK7, EEF1A2, FARS2, FOLR1, FOXG1, FRRS1L, GABBR2, GABRA1, GABRB3, GABRG2, GAMT, GNAO1, GRIN1, GRIN2A, GRIN2B, HCN1, HNRNPU, KCNA2, KCNB1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, MBD5, MECP2, MEF2C, MFSD8, NRXN1, PCDH19, PIGA, PIGN, PIGO, PLCB1, PNKP, PNPO, POLG, PPT1, PRRT2, PURA, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC12A5, SLC13A5, SLC19A3, SLC25A12, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMC1A, SPTAN1, ST3GAL3, STX1B, STXBP1, SYNGAP1, SZT2, TBC1D24, TPP1, TSC1, TSC2, WDR45, WWOX

References: 

Colin et al. Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy. Am J Hum Genet. 2016 Sep 1;99(3):695-703.

Epi4K Consortium. De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies. Am. J. Hum. Genet. 99: 287-298, 2016.

Bras et al. Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. Am. J. Hum. Genet. 96: 474-479, 2015.

Heron et al. Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet. 2012;44:1188–90.

Endele et al. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nature Genet. 42: 1021-1026, 2010.

Siekierska et al. Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy. Neurology 86: 2162-2170, 2016.

Mirzaa et al. CDKL5 and ARX mutations in males with early-onset epilepsy. Pediatr Neurol. 2013;48:367–377.

Palmer et al. Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy. Hum Mol Genet. 2016 Jul 15;25(14):3042-3054.