High-resolution molecular karyotyping with around 750,000 markers; detects CNVs, ROH and mosaicism.
Direct
About this service
PlatformAffymetrix GeneChip (CytoScan)
Data provided
Original signal intensities (CEL file), experiment file (ARR file) and QC report.
CYCHP files (generated by Chromosome Analysis Suite).
Standard report with significant segments (hg38): minimum genomic segment size 1 Mb for losses, 2 Mb for gains; Whole Genome View; KaryoView; segments table.
Upon request further bioinformatic analyses are available (additional cost will apply).
Workflow
Quality and quantity control of each DNA sample by gel electrophoresis and Nanodrop.
Sample preparation including restriction digestion, adapter ligation, PCR, fragmentation and labeling. During processing, success of the PCR and fragmentation is assessed by gel electrophoresis (QC gel 1 and 2). A positive control per batch ensures process quality; a negative control excludes DNA contamination.
Hybridization, dyeing, washing, and scanning of the appropriate ThermoFisher/Affymetrix microarray.
Generation of CYCHP files using the Affymetrix software Chromosome Analysis Suite.
Service-specific terms
If DNA samples do not pass the QC, a set-up fee of 25.- EUR per sample will be charged.
If the extracted DNA does not meet the sample requirements for the service, only the cost of DNA isolation will be charged. Further agreements and additional costs may apply.
Additional costs for data media (e.g. hard drives or usb drives) and delivery are not included and will be charged accordingly.