nextflex duchenne muscular dystrophy amplicon …duchenne muscular dystrophy (dmd) is the most...
TRANSCRIPT
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.
NEXTFLEX® Duchenne Muscular Dystrophy Amplicon PanelNEWBORN 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 IndexingUp to 240 samples with 100x coverage on a single Illumina® 2x 150 MiSeq® lane for germline mutations.
Efficient Workflow < 3 hrs hands-on time
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Amplicons arranged by their chromosomal position
Figure 1. Performance of NEXTFLEX® Duchenne Muscular Dystrophy Amplicon Panel Library. (Left) Gel image of amplicon products. (Right) Uniformity coverage across 167 amplicons.
Ordering Information
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.
CATALOG # PRODUCT NAME QUANTITY
NOVA-4256-01 NEXTFLEX® Duchenne Muscular Dystrophy Amplicon Panel for Illumina® Platforms (8 Barcodes) 8 rxns
NOVA-4256-02 NEXTFLEX® Duchenne Muscular Dystrophy Amplicon Panel for Illumina® Platforms (48 Barcodes) 48 rxns
NOVA-4256-03 NEXTFLEX® Duchenne Muscular Dystrophy Amplicon Panel for Illumina® Platforms (Barcodes 1-96) 96 rxns
NOVA-4256-04 NEXTFLEX® Duchenne Muscular Dystrophy Amplicon Panel for Illumina® Platforms (Barcodes 97-192) 96 rxns
NOVA-4256-05 NEXTFLEX® Duchenne Muscular Dystrophy Amplicon Panel for Illumina® Platforms (Barcodes 193-288) 96 rxns
NOVA-4256-06 NEXTFLEX® Duchenne Muscular Dystrophy Amplicon Panel for Illumina® Platforms (Barcodes 289-384) 96 rxns
20% Uniformity Threshold
*Reagents easily compatible with Thermo Fisher® Ion Torrent™ platforms. Please inquire for details.For research use only. Not for use in diagnostic procedures.
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