ped mastr plus this ready-to-use research assay allows the identification of all mutations in 51 genes associated with primary electrical disorders (ped), using the mastr plus simplified protocol. research application ? identification of all mutations in 51 genes associated with primary electrical disorders (ped) assay characteristics genomic region analyzed 276.8 kb number of amplicons 952 amplicon length 300-440 bp number of plexes 11 dna amount required 20 ng per multiplex reaction * excl. exon 9 ** excl. exon 4 brs 1: ivf associated lqts sqts 2: ers 3: ivf 4: sids 5: sss af arvd 6: arrhytmogenic cm 7: asd & av conductive defects, ebstein asd +/- av block 8: wpw 9: hb type 1b pathologies disease-associated genes abcc9 gpd1l nos1ap akap9 hcn4 5 nppa ank2 jup pkp2 cacna1c 1 kcna5 pln 6 cacna2d1 1 kcnd3 prkag2 8 cacnb2 1, 2 kcne1 ryr2 calm1 kcne2 scn1b casq2 kcne3 scn2b ** cav3 kcne5 scn3b 1 ctnna3 kcnh2 scn4b des kcnj2 scn5a 2 dpp6 3 kcnj5 slmap dsc2 kcnj8 1, 2 snta1 dsg2 kcnq1 * tgfb3 dsp lmna 6 tmem43 gja1 4 rangrf trdn gja5 nkx2-5 7 trpm4 9 ? af: atrial fibrillation ? arvd: arrhythmogenic right ventricular dysplasia ? asd & av: atrial septal defect and atrioventricular block ? brs: brugada syndrome ? cm: cardiomyopathy ? cpvt: catecholaminergic polymorphic right ventricular dysplasia ? ers: early repolariztion syndrome ? hb: heart block ? ivf: idiopathic ventricular fibrillation ? lqts: long qt syndrome ? sids: sudden infant death syndrome ? sqts: short qt syndrome ? sss: sick sinus syndrome ? wpw: wolfCparkinsonCwhite syndrome
? agilent technologies, inc. 2017 printed in belgium, december 31, 2017 5991-8389en pr7000-1414 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 cat. no. product name samples mr-0260.024 ped mastr plus 24 mid (molecular identifiers) kits are necessary to complete the workflow. graph presenting the high uniform coverage for all ped mastr plus amplicons. to allow comparison between samples, the read pair counts were normalized. 100% 90% 0 0,05 0,1 0,15 0,2 0,25 0,3 0,35 0,4 0,45 0,5 80% 70% 60% 50% 40% 30% 20% 10% 0% percentage of amplicons x mean coverage uniform coverage 5 amplicons detected f .x mean coverage high target specifcity on target read counts illumina miseq ? reagent kit nr samples kit v2 kit v3 5 10 performance characteristics snv and cnv* variant calling: advised maximum number of samples per run workflow plan run multiplex pcr quality control universal pcr quality control equimolar pooling mixing plexes of single sample puri? cation puri? cation multiplex pcr dilution universal pcr clean up mixing clean up pooling sequencing data analysis mastr plus work ow ngs
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