Application Guide - QIAxcel Advanced

16 QIAxcel Advanced Application Guide 10/2016 Using this method, we identified and validated known and novel inactivating mutations in 88% of individuals with DBA. Target enrichment combined with high-throughput sequencing is a robust methodology for the genetic detection of DBA and one that shows considerable improvement over existing methods. Figure 2. Analysis of amplified, adapter-ligated libraries. A Lanes 1–8: The adapter-ligated libraries were analyzed using the QIAxcel DNA Screening Kit and method AM320. Lane 9: QX DNA size marker 100 bp – 2.5 kb. B The electropherogram shows a single peak with a median size of 231 bp. The baseline filter is marked with a red line and the threshold with a blue line. As the shortest and longest DNA fragments, the QX Alignment Marker 15 bp/5 kb fragments are visible as sharp peaks at the beginning and the end of the run. Figure 3. Analysis of amplified capture DNA. A Lanes 1–8: The amplified capture DNA was analyzed using the QIAxcel DNA Screening Kit and method AM320. Lane 9: QX DNA size marker 100 bp – 2.5 kb. B The electropherogram shows a single peak with a median size of 237 bp. A B 1 2 3 4 5 6 7 8 9 1 5 2 0 0 4 0 0 7 0 0 3 0 0 0 15 bp 5000 bp 231 bp Size (bp) A B 1 2 3 4 5 6 7 8 9 1 5 2 0 0 1 0 0 4 0 0 3 0 0 6 0 0 1 2 0 0 3 0 0 0 15 bp 5000 bp 237 bp Size (bp) 123456789 123456789

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