產(chǎn)品描述
CleanPlex®有機(jī)酸血癥/人工**面板是一種預(yù)先設(shè)計(jì)和定制的基于多重PCR /擴(kuò)增子的靶向測(cè)序(NGS)分析方法,旨在檢查與有機(jī)酸血癥/人工**相關(guān)的65個(gè)基因的種系變異或突變。該小組針對(duì)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(cè)序就緒的文庫(kù),只需3個(gè)小時(shí)即可使用簡(jiǎn)化的工作流程進(jìn)行準(zhǔn)備。預(yù)先設(shè)計(jì)的面板經(jīng)過(guò)計(jì)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(cè)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(gòu)CleanPlex索引PCR引物和CleanMag®磁珠,以完成從輸入DNA到可測(cè)序的NGS文庫(kù)的工作流程。
貯存溫度
儲(chǔ)存在-20°C。
僅供研究使用。不用于診斷過(guò)程。
Gene List:
ABAT, ALDH5A1, ALDH7A1, AMT, ARHGEF9, ASNS, ATP1A3, CACNA1A, CACNA1B, CBS, CLTC, COMT, DBH, DDC, DHFR, DRD3, DRD4, DRD5, FOLR1, GABRA1, GABRB3, GABRD, GABRG2, GAD1, GCH1, GCSH, GLDC, GLRA1, GLRB, GLUL, GNAQ, GPHN, HTR1A, HTR2A, MAOA, MTHFD1, MTHFR, PC, PCBD1, PHGDH, PITX3, PNPO, PSAT1, PSPH, PTS, QDPR, SLC1A3, SLC25A22, SLC46A1, SLC6A1, SLC6A2, SLC6A3, SLC6A4, SLC6A5, SLC6A9, SNAP25, SNAP29, SNCA, SPR, STXBP1, SYN1, SYN2, SYP, TH, TPH2
References:
Pronicka E, et al New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre. J Transl Med. 2016 Jun 12;14(1):174.
Wen W, et al. NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study. BMC Med Genet. 2016 Feb 3;17:9.