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.