What is genetic diagnostics?

Molecular genetics is an interdisciplinary field of both natural sciences and medicine, requiring expertise in biochemistry, biology, and bioinformatics. Recent developments in the understanding of the human genome has made it possible for the detection of changes and explanation of causes of diseases. Research into these causes enables the accurate diagnosis of more and more diseases, and shows the increasing importance of molecular genetics in routine diagnosis.

Using molecular genetic diagnostics the referring physician is supported not only in the diagnosis, but may also receive a treatment recommendation for the genetic disorder. Precise advice on disease progression and prognosis is also possible in certain cases. For other family members a risk assessment on the basis of heredity can be made, too.