assay characteristics performance characteristics stargardt mastr stargardt mastr is a ready to use molecular research assay for early detection of abca4 , elovl4 and cngb3 variants associated with stargardt macular dystrophy. this assay allows the analysis of snvs, indels and cnvs in one single sequencing run. *only 192 mid combinations available. research application ? for the detection of variants (snvs and cnvs), in 3 selected genes associated with stargardt on blood-derived dna using illumina miseq ? genes abca4, elovl4 and cngb3 genomic region analyzed 21.7 kb number of amplicons 91 amplicon length 300 C 430 bp number of plexes 4 verifed with ngs system illumina miseq designed to be compatible with illumina ngs systems uniformity of amplifcation (0.2x mean coverage) 98 % on target read count 96 % dna input as low as 20 ng per plex sequencing system illumina miseq ? reagent kit flow cell nano v 2 2 x 250 bp v2 2 x 250 bp v3 2 x 300 bp for snv only minimal coverage per allele: 20 46 690* 1266* for snv and cnv minimal coverage per amplicon: 200 9 139 254* advised maximum number of samples per run:
? agilent technologies, inc. 2017 printed in belgium, december 31, 2017 5991-8407en pr7000-1424 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 product type reactions mr-0171.024 stargardt mastr research 24 mid (molecular identifiers) kits are necessary to complete the workflow. 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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