b'Table 1. CytoScan Suite specificationsCytoScan HD CytoScan 750K CytoScan Optima CytoScan HT-CMA CytoScan XONResearch applicationsThe benchmark inHigh genome-wideA low-cost genome- A solution forSensitive single cytogenetics researchresolution for thewide platformhigh-throughput,exon-level copy with highest genome- analysis of copyfor detection ofcost-effectivenumber analysis with wide resolution ofnumber gains andaneuploidies andgenome-wide copyoutstanding coverage CNVs for applicationslosses for prenatalcopy number lossesnumber analysiswithin exons across in prenatal andand postnataland gains at lowerfor constitutionalthe whole genome. postnatal research research resolution, optimizedcytogenetics researchUse as a stand-alone for constitutionalapplications, as wellresearch tool or to cytogenetics research as testing of relevantconfirm CNV findings SNP variants with alternative technologies like next generation sequencingSample types Blood, buccal swabs,Blood, buccal swabs,Amniocytes,Blood, buccal swabs,Blood. Othersaliva, unculturedsaliva, unculturedchorionic villi, POC,saliva, uncultured sources of DNA or cultured cells,or cultured cells,blood, uncultured or or cultured cells,can be used upon chorionic villi,chorionic villi,cultured cells chorionic villi,building a customized amniocytes, and POC amniocytes, and POC amniocytes, and POC reference fileSize ofLosses: 25 kb Losses: 100 kb Losses: 1 Mb Gains/losses (except95% sensitivity for the aberration*Gains: 50 kb Gains: 400 kb Gains: 2 Mb for OMIM genes):detection of exon-(analytical claims) 400 kblevel CNVsLOH/AOH: 3 Mb LOH/AOH: 5 Mb AOH: 5 Mb Gains/lossesDesigned to cover the Mosaicism: 15%Mosaicism: 15% Mosaicism: 20%(OMIM genes): 100 kbwhole genome, with (approximately) 20% (approximately) (approximately) LOH/AOH: 3 Mb increased coverage 400 genes at 100 kbMosaicism:in 7,000 clinically resolution 15%20% relevant genesInput DNA 10250 ng** 10250 ng** 10250 ng** 100 ng 100 ngProbe structure 2.67 million markers750,000 markersWhole genome750,000 markers6.85 million for whole genomefor whole genomecoverage for whole genomeempirically selected coverage coverage 315,000 featurescoverage probes for whole-1.95 million550,000covering control, CNV550,000genome coverage nonpolymorphicnonpolymorphicand SNP probes nonpolymorphicincluding: markers markers ~148,000 SNP probesmarkers 6.5 million copy ~743,000 SNP~200,000 SNPfor LOH analysis,~200,000 SNPnumber probes probes for LOH/AOHprobes for LOHduo-trio assessment,probes for LOH300,000 SNP probes analysis, duo-trioanalysis, duo-trioand sample tracking analysis, duo-triofor LOH analysis, assessment, andassessment, andassessment, andduo-trio assessment, sample tracking sample trackingsample tracking. and sample trackingSNP probes for 178 variants across 36 genes such as SMN1 and SMN2Protocol 34 days34 daysAs little as 2.5 days 4 days 4 daysClick on each icon to download datasheets*Size of aberrationThe size of the segment call depends on the average marker spacing in the region. Best performance can be achieved in regions with higher marker coverage. Mosaicism detection may depend on the size of the altered segment and the type of aberration involved. **250 ng is optimal but users have reported success using as little as 10 ng starting DNA.7'