Product Description
The CleanPlex® Duchenne muscular dystrophy 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 48 genes associated with Comprehensive Muscular Dystrophy. 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:
ANO5, B3GALNT2, B4GAT1, CAPN3, CAV3, CHKB, COL6A1, COL6A2, COL6A3, DAG1, DES, DMD, DNAJB6, DPM1, DPM2, DPM3, DYSF, EMD, FHL1, FKRP, FKTN, GAA, GMPPB, ISPD, ITGA7, LAMA2, LARGE1, LMNA, MYOT, PLEC, PNPLA2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, SYNE1, SYNE2, TCAP, TMEM43, TNPO3, TRAPPC11, TRIM32, TTN
References:
Gamez et al. Autosomal dominant limb-girdle muscular dystrophy: a large kindred with evidence for anticipation. Neurology. 2001;56:450–4.
Takeshima et al. Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center. J Hum Genet. 2010;55:379–88.
Moat et al. Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK). Eur J Hum Genet. 2013;21(10):1049–53.
Bird TD. Myotonic Dystrophy Type 1. GeneReviews®. Pagon RA, Adam MP, Ardinger HH, et al., editors. Seattle (WA): University of Washington, Seattle; 1993-2017.
Sarparanta et al. Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. Nat Genet. 2012;44:450–5.