CleanPlex® Encephalopathy Panel

Product Description

CleanPlex® Encephalopathy 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 296 genes associated with Comprehensive Epilepsy. 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.

产品描述

CleanPlex®**性癫痫专家组是一种预先设计的，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**性癫痫相关的296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。

Storage Temperature

Store at -20 °C.

For Research Use Only. Not for use in diagnostic procedures.

Gene List: 
ABAT, ABCD1, ACTL6B, ACY1, ADAM22, ADAR, ADGRG1, ADGRV1, ADSL, AGA, AIFM1, ALDH5A1, ALDH7A1, ALG13, AMACR, AMT, ANKRD11, AP3B2, ARFGEF2, ARG1, ARHGEF9, ARID1B, ARSA, ARX, ASAH1, ASNS, ASPA, ATP13A2, ATP1A2, ATP1A3, ATP6AP2, ATRX, BCKDK, BRAT1, BTD, C12orf57, CACNA1A, CACNA1B, CACNA1D, CACNA1H, CACNA2D2, CACNB4, CARS2, CASK, CASR, CDKL5, CERS1, CHD2, CHRNA2, CHRNA4, CHRNB2, CLCN2, CLCN4, CLN3, CLN5, CLN6, CLN8, CLTC, CNPY3, CNTN2, CNTNAP2, COL18A1, COL4A1, COX15, CPA6, CPT2, CRH, CSTB, CTNNB1, CTSD, CTSF, CUL4B, CYFIP2, DCX, DDX3X, DENND5A, DEPDC5, DHCR7, DHFR, DNAJC5, DNM1, DOCK7, DPYD, DYRK1A, EEF1A2, EFHC1, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPM2A, ETFDH, FARS2, FGF12, FH, FKTN, FLNA, FOLR1, FOXG1, FRRS1L, GABBR2, GABRA1, GABRB2, GABRB3, GABRG2, GALC, GAMT, GATM, GCDH, GFAP, GLB1, GLDC, GLRA1, GLRB, GNAO1, GNB1, GNE, GOSR2, GPAA1, GPHN, GRIA3, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HCN2, HECW2, HNRNPU, HSD17B10, IER3IP1, IQSEC2, IRF2BPL, ITPA, KANSL1, KCNA1, KCNA2, KCNB1, KCNC1, KCNH1, KCNH2, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM5C, KDM6A, KIAA2022, L2HGDH, LGI1, LIAS, LRPPRC, MAGI2, MBD5, MDH2, MECP2, MED12, MED17, MEF2C, MFSD8, MLC1, MOCS1, MTFMT, MTHFR, MTOR, NACC1, NDST1, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NECAP1, NEDD4L, NEU1, NEXMIF, NF1, NGLY1, NHLRC1, NOTCH3, NPRL3, NR2F1, NRXN1, NSD1, NUS1, OFD1, OPHN1, PACS1, PAFAH1B1, PAK3, PCDH19, PGK1, PHF6, PIGA, PIGG, PIGN, PIGO, PIGP, PIGT, PIGV, PIGW, PLAA, PLCB1, PLP1, PLPBP, PNKP, PNPO, POLG, POMT1, POMT2, PPP3CA, PPT1, PQBP1, PRICKLE1, PRIMA1, PRODH, PRRT2, PSAP, PURA, QARS, QDPR, RAB39B, RELN, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, RORB, SAMHD1, SATB2, SCARB2, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SERPINI1, SETBP1, SIK1, SLC12A5, SLC13A5, SLC17A5, SLC19A3, SLC25A12, SLC25A15, SLC25A22, SLC2A1, SLC35A2, SLC46A1, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMC1A, SMS, SNAP25, SPATA5, SPTAN1, ST3GAL3, ST3GAL5, STRADA, STX1B, STXBP1, SUMF1, SUOX, SYN1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TBL1XR1, TCF4, TNK2, TPK1, TPP1, TREX1, TSC1, TSC2, TUBA1A, TUBA8, TUBB2A, TUBB2B, UBA5, UBE2A, UBE3A, UNC80, VPS13A, WASF1, WDR45, WWOX, ZEB2

References: 
Baldassari S, et al. GATOR1 complex: the common genetic actor in focal epilepsies. J Med Genet. 2016 Aug;53(8):503-10.

Boerma RS, et al. Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach. Neurotherapeutics. 2016 Jan;13(1):192-7.

Hildebrand MS, et al. A targeted resequencing gene panel for focal epilepsy. Neurology. 2016 Apr 26;86(17):1605-12.

Mikati MA, et al. Quinidine in the treatment of KCNT1-positive epilepsies. Ann Neurol. 2015 Dec;78(6):995-9.

Palavra F, et al. Recent Advances and Challenges of mTOR Inhibitors Use in the Treatment of Patients with Tuberous Sclerosis Complex. Oxid Med Cell Longev. 2017;2017:9820181.

Scheffer IE, et al. ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology. Epilepsia. 2017 Apr;58(4):512-521.

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