Product Description
The CleanPlex® Hereditary Spastic Paraplegia Comprehensive 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 70 genes associated with Hereditary Spastic Paraplegia Comprehensive. 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®遺傳性痙攣性截癱綜合評(píng)估小組是一種預(yù)先設(shè)計(jì)和定制的基于多重PCR /擴(kuò)增子的靶向測(cè)序（NGS）分析方法，旨在檢查與遺傳性痙攣性截癱相關(guān)的70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(guò)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:
ABCD1, ALDH18A1, ALS2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ARSI, ATL1, ATP13A2, ATP2B4, B4GALNT1, BICD2, BSCL2, C12orf65, C19ORF12, CAPN1, CCT5, CYP2U1, CYP7B1, DARS, DDHD1, DDHD2, ENTPD1, ERLIN1, ERLIN2, EXOSC3, FA2H, FARS2, GBA2, GJC2, HACE1, HSPD1, IBA57, KDM5C, KIAA0196, KIDINS220, KIF1A, KIF1C, KIF5A, L1CAM, MAG, NIPA1, NT5C2, PLP1, PNPLA6, REEP1, REEP2, RTN2, SACS, SLC16A2, SLC33A1, SPART, SPAST, SPG11, SPG20, SPG21, SPG7, TECPR2, TFG, USP8, VAMP1, VPS37A, WASHC5, WDR48, ZFYVE26, ZFYVE27
References:
Butler et al. Three cases of Troyer syndrome in two families of Filipino descent. Am J Med Genet A. 2016 Jul;170(7):1780-5.
Boukhris et al. A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum. Neurogenetics. 2010;11:441–8.
Halevy et al. Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia. J. Neurol. 261: 2165-2169, 2014.
Tesson et al. Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am J Hum Genet. 2012;91:1051–64.
Wakil et al. Novel B4GALNT1 mutations in a complicated form of hereditary spastic paraplegia. Clin Genet. 2014 Nov;86(5):500-1.
Novarino et al. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 343: 506-511, 2014.
Winner et al. Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11). Arch Neurol. 2004;61:117–21.
Martinez-Lage et al. TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation. Acta Neuropathol. 2012;124:285–91.
Hansen et al. Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. Am J Hum Genet. 2002 May;70(5):1328-32.
Li et al. PMCA4 (ATP2B4) mutation in familial spastic paraplegia. PLoS One. 2014 Aug 13;9(8):e104790.