De queeste naar nieuwe genen in het land van genodermatosen

In the past 10 years novel DNA and RNA analysis techniques in the diagnostics for genetic diseases have developed rapidly. These techniques provide quick results, and make it possible to look at several genes, and even the whole exome and/or genome instead of one gene at a time. DNA diagnostics has also been developed for patients with genodermatoses.For patients in whom no mutation was found in the past,these mutations can now be exposed with these new techniques. The development of diagnostics for genodermatoses will be discussed in this article