The NCCT team performs whole genome sequencing (WGS) on Illumina HiSeq sequencers. Next-Generation Sequencing of the whole genome provides a complete picture of the genetic makeup of a human individual or a different organism. A coverage of 30x is recommended, which means that each base in the genome is sequenced 30 times on average. At this sequencing depth point mutations and SNPs can be detected reliably. In addition, we can perform an analysis of large amplifications and deletions as variations in copy number.

For detection of large insertions and deletions microarray analysis is commonly used and part of our services.