Duchenne muscular dystrophy (DMD) is the most common fatal genetic disorder diagnosed in childhood, affecting one in every 3,500 males, equating to approximately 20,000 new cases each year. Caused by mutations in the DMD gene that encodes the protein dystrophin, patients display progressive muscle weakness, loss of ambulation, trouble breathing, and increased susceptibility to injury over the course of their lifetime 1 . More than 1,000 mutations in the DMD gene have been identified through clinical research in both Duchenne muscular dystrophy and the less severe Becker muscular dystrophy 2 . NEXTFLEX ® Duchenne Muscular Dystrophy Amplicon Panel NEWBORN SYNDROMES & INFERTILITY Gene Content DMD exons Low Sample Requirement > 20 ng total DNA from fresh or frozen samples Coverage Uniformity 100% at ≥ 0.2x mean coverage On-target Reads > 99% High Sample Indexing Up to 240 samples with 100x coverage on a single Illumina ® 2x 150 MiSeq ® lane for germline mutations. Efficient Workflow < 3 hrs hands-on time PERFORMANCE INNOVACIÓN TECNOLÓGICA PARA LABOTORIO
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NEXTFLEX Duchenne Muscular Dystrophy Amplicon …Duchenne muscular dystrophy (DMD) is the most common fatal genetic disorder diagnosed in childhood, affecting one in every 3,500 males,
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Duchenne muscular dystrophy (DMD) is the most common fatal genetic disorder diagnosed in childhood, affecting one in every 3,500 males, equating to approximately 20,000 new cases each year. Caused by mutations in the DMD gene that encodes the protein dystrophin, patients display progressive muscle weakness, loss of ambulation, trouble breathing, and increased susceptibility to injury over the course of their lifetime1. More than 1,000 mutations in the DMD gene have been identified through clinical research in both Duchenne muscular dystrophy and the less severe Becker muscular dystrophy2.
Figure 1. Performance of NEXTFLEX® Duchenne Muscular Dystrophy Amplicon Panel Library. (Left) Gel image of amplicon products. (Right) Uniformity coverage across 167 amplicons.
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The NEXTFLEX® Duchenne Muscular Dystrophy Amplicon Panel, along with our other panel offerings, is a powerful research tool enabling the accurate detection and differentiation of mutations for clinical research in a rapid and high-throughput manner using NGS.
References1. Yiu, E. and Kornberg, A. 2015. Duchenne muscular dystrophy. J.Pediatr. Child Health. 51(8): 759-764.2. Fairclough, R. et al. 2014. Therapy for Duchenne muscular dystrophy: renewed optimism from genetic approaches. Nature Rev. 14(6): 373-378.
*Reagents easily compatible with Thermo Fisher® Ion Torrent™ platforms. Please inquire for details.For research use only. Not for use in diagnostic procedures.