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- 产品名称：CleanPlex® Cowden Syndrome Panel
- 产品型号：
- 产品展商：Paragon Genomics CleanPlex
- 产品文档：无相关文档
- 发布时间：2020-03-27
- 在线询价
简单介绍
CleanPlex® Cowden Syndrome Panel is a pre-designed and made-to-order multiplex PCR / amplicon-based targeted sequencing assay for examining the germline variants or mutations across 79 g
产品描述
产品描述
CleanPlex®自闭症谱系障碍小组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，旨在检查与自闭症谱系障碍相关的79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:
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.
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