You order a panel for detection of genetic markers of one or several diseases; we jointly draw up a list of regions for analysis: for example, in accordance with the nature of the disease, it can be whole genes, exons, introns, splicing sites, hot spots and it's combinations.
Since the development
of some diseases contribute
to the complex genetic variants (i. e. large deletions, inversions, number of copies variations), it is possible
to establish a method
to determine such mutations