Product Description
CleanPlex® SMO Panelis a pre-designed and made-to-order multiplex PCR / amplicon-based targeted sequencing (NGS) assay designed to examine the germline variants or mutations across 36 genes associated with Craniosynostosis. 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®顱骨融合癥面板是一種預先設計的，定制的，基于多重PCR /擴增子的靶向測序（NGS）檢測方法，旨在檢查與顱骨融合癥相關的36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:
ALPL, ALX4, BMP4, CDC45, CYP26B1, EFNB1, ERF, ESCO2, FGFR1, FGFR2, FGFR3, FREM1, GLI3, IFT122, IFT140, IFT43, IL11RA, MASP1, MEGF8, MSX2, P4HB, POR, RAB23, RECQL4, SEC24D, SKI, SPECC1L, TCF12, TCOF1, TGFBR1, TGFBR2, TMCO1, TWIST1, WDR19, WDR35, ZIC1
References:
Bellus GA, et al. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nat Genet. 1995 Jul;10(3):357-9.
Merrill AE, et al. 2012. Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling. Am J Hum Genet 90: 550–557.
Toydemir RM, et al. 2006. A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. Am. J. Hum. Genet. 79: 935-941.
Agochukwu NB, et al. 2014. Muenke Syndrome. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews(®), Seattle (WA): University of Washington, Seattle.
Deng C, et al. 1996. Fibroblast growth factor receptor 3 is a negative regulator of bone growth. Cell 84: 911-921.