Product Description
The CleanPlex® Hyperphenylalaninemia 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 7 genes associated with Hyperphenylalaninemia. 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®高苯丙氨酸血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）分析方法，旨在檢查與高苯丙氨酸血癥相關的7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(yōu)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:
DNAJC12, GCH1, PAH, PCBD1, PTS, QDPR, SPR
References:
Anikster Y, et al. Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. Am J Hum Genet. 2017 Feb 2;100(2):257-266.
Camp KM, et al. Phenylketonuria Scientific Review Conference: state of the science and future research needs. Mol Genet Metab. 2014 Jun;112(2):87-122.
Leuzzi V, et al. Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency. Clin Genet. 2010 Mar;77(3):249-57.