產(chǎn)品描述
CleanPlex®自閉癥譜系障礙小組是一種預(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，旨在檢查與自閉癥譜系障礙相關(guān)的79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。不用于診斷過程。
Gene List:
ADNP, ADSL, ALDH5A1, ANKRD11, ARID1B, ARX, AUTS2, BCL11A, BRAF, CACNA1C, CC2D1A, CDKL5, CHD2, CHD7, CHD8, CNTN6, CNTNAP2, CREBBP, CSNK2A1, CTNND2, DHCR7, DYRK1A, EHMT1, FMR1, FOLR1, FOXG1, FOXP1, GABRB3, GAMT, GRIN2B, GRIP1, HDAC8, HOXA1, HPRT1, KATNAL2, KMT5B, MAGEL2, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, PCDH19, POGZ, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, RPL10, SCN1A, SCN2A, SHANK2, SHANK3, SLC6A1, SLC6A8, SLC9A6, SMC1A, SMC3, SPAST, SYNGAP1, TBR1, TCF20, TCF4, TSC1, TSC2, UBE3A, UPF3B, VPS13B, ZEB2
References:
Lauritsen et al. Effects of familial risk factors and place of birth on the risk of autism: a nationwide register-based study. J Child Psychol Psychiatry. 2005;46:963–971.
Saunders et al. Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics. Am J Med Genet A. 2009;149A:2527–31.
Shen et al. Clinical Genetic Testing for Patients With Autism Spectrum Disorders. Pediatrics. 2010 Apr; 125(4): e727–e735.
Fernell et al. Early diagnosis of autism and impact on prognosis: a narrative review. Clin Epidemiol. 2013; 5: 33–43.
Zoghbi HY, Bear MF. Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities. Cold Spring Harb Perspect Biol. 2012 Mar; 4(3): a009886.