Product Description
The CleanPlex® Hypertrophic Cardiomyopathy (HCM) Panel is a pre-designed and made-to-order multiplex PCR / amplicon-based targeted sequencing (NGS) assay designed to examine the germline variants or mutations across 72 genes associated with Hypertrophic Cardiomyopathy (HCM). The panel targets all the exonic regions of those genes and the flanking intronic sequences. Compatible with just 10 ng of DNA, sequencing-ready libraries can be prepared using a streamlined workflow in just 3 hours. The pre-designed panel is optimized in silico to deliver data with high on-target performance and high coverage uniformity to ensure efficient use of sequencing reads.
This product is made to order. Once we receive your order, we will synthesize the panel and the kit will contain CleanPlex Multiplex PCR Primers and CleanPlex Targeted Library Kit. CleanPlex Indexed PCR Primers and CleanMag® Magnetic Beads can be ordered separately to complete the workflow from input DNA to sequencing-ready NGS libraries.
產品描述
CleanPlex®肥厚型心肌病（HCM）面板是一種預先設計和定制的多重PCR /基于擴增子的靶向測序（NGS）分析方法，旨在檢查與肥厚型心肌病（HCM）相關的72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域和側翼內含子序列。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。預先設計的面板經過計算機優化，可提供具有高目標性能和高覆蓋均勻性的數據，以確保有效利用測序讀數。
該產品是定做的。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。
Storage Temperature
Store at -20 °C.
For Research Use Only. Not for use in diagnostic procedures.
Gene List:
ACTC1, ACTN2, CAV3, CSRP3, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTR, VCL, BAG3, DES, FHL1, FLNC, GAA, LDB3, ANKRD1, JPH2, MYH6, MYLK2, MYPN, NEXN, TTN, ABCC9, AGL, CACNA1C, CRYAB, KRAS, MYOZ2, PDLIM3, PTPN11, RAF1, RYR2, SOS1, BRAF, CALR3, DMD, DSC2, DSG2, DSP, DTNA, EMD, FKTN, GATA4, GATAD1, HRAS, ILK, JUP, LAMA4, LMNA, MAP2K1, MAP2K2, NEBL, NRAS, PKP2, RBM20, RIT1, SCN5A, SGCD, SHOC2, TAZ, TMEM43, TMPO
References:
Khera AV, Won HH, Peloso GM, et al. Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia. J Am Coll Cardiol. 2016;67(22):2578-89.
Semsarian C. Update on the Diagnosis and Management of Hypertrophic Cardiomyopathy. Heart Lung Circ. 2018;27(3):276-279.
Gersh BJ, Maron BJ, Bonow RO, et al. 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Circulation. 2011;124(24):2761-96.
Morita H, Rehm HL, Menesses A, et al. Shared genetic causes of cardiac hypertrophy in children and *****s. N Engl J Med. 2008;358(18):1899-908.
Semsarian C, Ingles J, Maron MS, Maron BJ. New perspectives on the prevalence of hypertrophic cardiomyopathy. J Am Coll Cardiol. 2015;65(12):1249-54.
Crocini C, et al. Impact of ANKRD1 mutations associated with hypertrophic cardiomyopathy on contraction parameters of engineered heart tissue. Basic Res Cardiol. 2013 May;108(3):349.