Application Guide - QIAxcel Advanced

QIAxcel Advanced Application Guide 10/2016 17 For up-to-date licensing information and product-specific disclaimers, see the respective QIAGEN kit handbook or user manual. QIAGEN kit handbooks and user manuals are available at www.qiagen.com or can be requested from QIAGEN Technical Services or your local distributor. Discover the benefits of automated gel electrophoresis at www.qiagen.com/QIAxcel. Trademarks: QIAGEN® , Sample to Insight® , QIAamp® , QIAcube® , QIAxcel® (QIAGEN Group); Agilent® , SureSelect® (Agilent Technologies, Inc); Applied Biosystems® (Life Technologies Corporation); Covaris® (Covaris Inc.); Illumina® , MiSeq® (Illumina Inc.). Registered names, trademarks, etc. used in this document, even when not specifically marked as such, are not to be considered unprotected by law. Ordering www.qiagen.com/shop Technical Support support.qiagen.com Website www.qiagen.com Conclusions Target-gene enrichment followed by multiplexing and high-throughput sequencing is a powerful approach that allows rare mutations to be found in large sets of genes. Advantages over conventional approaches include the capacity for rapid, accurate, and cost-effective screening of all 80 ribosomal protein genes and the ease of identification of DBA-associated mutations. The method could also prove useful when screening for rare mutations in other genetically complex diseases. The QIAxcel Advanced System allowed reliable and cost-effective library quality control through the whole library preparation procedure. Thus, the sample quality was continuously monitored, securing the good quality of libraries and the high quality of the final sequencing data. References 1. Gerrard, G., et al. (2013) Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia. Brit. J. Haematology 162(4), 530 Ordering Information Product Contents Cat. no. QIAxcel Advanced Capillary electrophoresis device: includes computer, QIAxcel ScreenGel software, and 1-year warranty on parts and labor 9001941 QIAxcel DNA High Resolution Kit (1200) QIAxcel DNA High Resolution Cartridge, Buffers, Mineral Oil, QX Intensity Calibration Marker, 12-Tube Strips 929002 QIAxcel DNA Screening Kit (2400) QIAxcel DNA Screening Cartridge, Buffers, Mineral Oil, QX Intensity Calibration Marker, 12-Tube Strips 929004 QX Alignment Marker, 15 bp/5 kb (1.5 ml) Alignment marker with 15 bp and 5 kb fragments 929524 QX DNA Size Marker, 100 bp – 2.5 kb (50 μl) DNA size marker with fragments of 100, 200, 300, 400, 500, 600, 700, 800, 1000, 1200, 1500, 2000, and 2500 bp, and a concentration of 100 ng/μl 929559

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