Product Description
The CleanPlex® Hyperammonemia and Urea Cycle Disorder 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 52 genes associated with Hyperammonemia and Urea Cycle Disorder. 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(chǎn)品描述
CleanPlex®高氨血癥和尿素循環(huán)紊亂小組是一種預(yù)先設(shè)計(jì)和定制的多重PCR /基于擴(kuò)增子的靶向測(cè)序（NGS）分析方法，旨在檢查與高氨血癥和尿素循環(huán)紊亂相關(guān)的52個(gè)基因的種系變異或突變。該小組針對(duì)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(cè)序就緒的文庫(kù)，只需3個(gè)小時(shí)即可使用簡(jiǎn)化的工作流程進(jìn)行準(zhǔn)備。預(yù)先設(shè)計(jì)的面板經(jīng)過計(jì)算機(jī)優(yōu)化，可提供具有高目標(biāo)性能和高覆蓋均勻性的數(shù)據(jù)，以確保有效利用測(cè)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(gòu)CleanPlex索引PCR引物和CleanMag®磁珠，以完成從輸入DNA到可測(cè)序的NGS文庫(kù)的工作流程。
Storage Temperature
Store at -20 °C.
For Research Use Only. Not for use in diagnostic procedures.
Gene List:
ACADM, ACADS, ACADVL, ALDH18A1, ARG1, ASL, ASS1, BCKDHA, BCKDHB, BTD, CA5A, CPS1, CPT1A, CPT2, DBT, DLD, ETFA, ETFB, ETFDH, GLUD1, GLUL, HADHA, HADHB, HCFC1, HLCS, HMGCL, HMGCS2, IVD, MCCC1, MCCC2, MMAA, MMAB, MMACHC, MMADHC, MUT, NAGS, OAT, OTC, PC, PCCA, PCCB, PDHA1, SERAC1, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC7A7, SUCLA2, SUCLG1, TMEM70, UMPS
References:
Shoji Y, et al. Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance. Hum Mutat. 2002 Nov;20(5):375-81.
H?berle J. Clinical and biochemical aspects of primary and secondary hyperammonemic disorders. Arch Biochem Biophys. 2013 Aug 15;536(2):101-8.