Product Description
The CleanPlex® Charcot-Marie-Tooth Disease 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 74 genes associated with Charcot-Marie-Tooth Disease. 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.
Gene List:
AARS, AIFM1, ARHGEF10, ATL1, ATP1A1, ATP7A, BSCL2, C12ORF65, COX6A1, CTDP1, DHTKD1, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, ELP1, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HADHB, HARS, HINT1, HK1, HSPB1, HSPB8, IGHMBP2, INF2, KARS, KIF1A, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MME, MORC2, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, REEP1, RETREG1, SBF1, SBF2, SH3TC2, SLC12A6, SLC25A46, SPG11, SPTLC1, SPTLC2, TFG, TRIM2, TRPV4, TTR, VCP, WNK1, YARS
References:
Pipis M, et al. Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges. Nat Rev Neurol. 2019 Nov;15(11):644-656.
Morena J, et al. Charcot-Marie-Tooth: From Molecules to Therapy. Int J Mol Sci. 2019 Jul 12;20(14).
Vaeth S, et al. Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform. Eur J Med Genet. 2019 Jan;62(1):1-8.
Li LX, et al. Improving molecular diagnosis of Chinese patients with Charcot-Marie-Tooth by targeted next-generation sequencing and functional analysis. Oncotarget. 2016 May 10;7(19):27655-64.
