The causes of genetic diseases can be identified by digital karyotyping, such as copy number variations (CNV), amplifications, deletions, loss of heterozygosity (LOH) or copy-number-neutral LOH (uniparental disomy). Karyotyping based on oligonucleotides using microarrays is characterised by a very high resolution with distances of a few kilobase (kb) only. Depending on the type of microarray, the probes are located at an average distance of 1 kb. We use technologies from Thermo Fisher Scientific/Affymetrix, such as CytoScan and Agilent Technologies (CGH, SurePrint).
Original data | Quality reports | Results as a CSV or TXT file
DNA extraction | Additional bioinformatic analyses