CleanPlex®卟啉癥是一種預(yù)先設(shè)計和定制的多重PCR /基于擴增子的靶向測序（NGS）分析方法，旨在檢查與卟啉癥相關(guān)的12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(cè)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(yù)先設(shè)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。
貯存溫度
儲存在-20°C。
僅供研究使用。不用于診斷過程。
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.