Product Description
The CleanPlex® Comprehensive Epilepsy 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.
產(chǎn)品描述
CleanPlex®**性癲癇專家組是一種預先設計的，定制的，基于多重PCR /擴增子的靶向測序（NGS）分析方法，旨在檢查與**性癲癇相關的296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行準備。預先設計的面板經(jīng)過計算機優(yōu)化，可提供具有高目標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。
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.