assay characteristics dmd mastr a simple and robust molecular research assay for the identification of all snvs and cnvs in the dmd gene associated with muscular dystrophies research application detection of dmd variants associated with ? duchenne muscular dystrophy (dmd) ? becker muscular dystrophy (bmd) ? x-linked dilated cardiomyopathy (xlcm) genes analyzed dmd transcript nm_004006 (dp427m isoform) genomic region analyzed 23 kb all 79 exons +/- 30 kb fanking region cnvs and snvs number of amplicons 118 including 28 control amplicons amplicon length 280-400 bp number of plexes 4 dna amount required 20 ng per multiplex reaction dmd advised maximum number of samples per run: workflow sequencing system illumina miseq? reagent kit flow cell nano v 2 2 x 251 cycles v2 2 x 251 cycles v3 2 x 276 cycles for snv only minimal coverage per allele: 20 35 530* 972 * for snv and cnv minimal coverage per amplicon: 200 7 $ 107 196* * only 192 mid combinations available $ for statistically reliable cnv calling, it is advised to analyze minimum 10 samples together. identical cnvs can not be present in more than 15 % of the samples of a sequencing run.
? agilent technologies, inc. 2017 printed in belgium, december 31, 2017 5991-8382en pr7000-1407 order info for research use only. not for use in diagnostic procedures. multiplicom n.v. [ a ] galile?laan 18, b-2845 niel, belgium [ w ] www.agilent.com [ e ] mtp.customerservice@agilent.com [ t ] +32 3 289 14 00 [ f ] +32 3 400 23 16 workflow cat. no. product name reactions mr-0120.008 dmd mastr 8 mid (molecular identifiers) kits are necessary to complete the workflow. plan run multiplex pcr quality control universal pcr quality control equimolar pooling mixing plexes of single sample puri? cation multiplex pcr dilution universal pcr mixing clean up pooling sequencing data analysis mastr work? ow ngs
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