Product Description
The CleanPlex® Joubert and Meckel-Gruber Syndromes 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 33 genes associated with Joubert and Meckel-Gruber Syndromes. 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.
Storage Temperature
Store at -20 °C.
For Research Use Only. Not for use in diagnostic procedures.
產品描述
CleanPlex®Joubert和Meckel-Gruber綜合征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Joubert和Meckel-33相關的33個基因的種系變異或突變格魯伯綜合征。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。
貯存溫度
儲存在-20°C。
僅供研究使用。不用于診斷過程。
Gene List:
AHI1, ARL13B, B9D1, B9D2, CC2D2A, CEP104, CEP120, CEP290, CEP41, CPLANE1, CSPP1, IFT172, INPP5E, KIAA0586, KIF14, KIF7, MKS1, NPHP1, NPHP3, OFD1, PDE6D, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423
References:
Hartill V, et al. Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances. Front Pediatr. 2017 Nov 20;5:244.
Brancati F, et al. Joubert Syndrome and related disorders. Orphanet J Rare Dis. 2010 Jul 8;5:20.
Parisi M, et al. Joubert Syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. SourceGeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2003 Jul 9 [updated 2017 Jun 29].