CleanPlex®卟啉症是一种预先设计和定制的多重PCR /基于扩增子的靶向测序(NGS)分析方法,旨在检查与卟啉症相关的12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: ALAD, ALAS2, C15orf41, CPOX, FECH, HFE, HMBS, LAD, PPOX, SLC19A2, UROD, UROS References: Gouya L. et al. Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. Am J Hum Genet. 2006 Jan;78(1):2-14. Mendez M. et al. Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles. Am J Hum Genet. 1998 Nov;63(5):1363-75. Whatley S.D. et al. Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria. The Journal of Investigative Dermatology. J Invest Dermatol. 2007 Dec;127(12):2790-4.
Gene List: ALAD, ALAS2, C15orf41, CPOX, FECH, HFE, HMBS, LAD, PPOX, SLC19A2, UROD, UROS
References: Gouya L. et al. Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. Am J Hum Genet. 2006 Jan;78(1):2-14.
Mendez M. et al. Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles. Am J Hum Genet. 1998 Nov;63(5):1363-75.
Whatley S.D. et al. Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria. The Journal of Investigative Dermatology. J Invest Dermatol. 2007 Dec;127(12):2790-4.