Main focus of research

Evaluation of clinical relevance We permanently correlate clinical data with molecular findings. This provides useful information allowing to specify test indication, improve interpretation of molecular results, and recommend therapy tailored to abnormalities in individual patients. (For instance, please refer to Hum Mutat. 2005 Jul;26(1):60)

Epidemiological genetic research We participate in epidemiological genetic studies. Often we encounter new genetic variations, in which knowledge of molecular physiology is not sufficient to evaluate clinical importance. These variations require additional epidemiological information, which we immediately introduce into our service. (For instance, please refer to BMC Nephrol. 2005 Jan 11;6(1):1)

Quality control Quality control is a separate subject of research. In molecular diagnostic it is a multidimensional task. Only a small part of it can be covered by certification programs. Efforts are undertaken to reduce cost and to improve effectiveness.

Theoretical biology Our institution sponsors the development and publication of the fauceir evolution theory. (Please refer to www.faucier.org)

Offered service

You have a rare disease We search for the genetic background.

You are performing a clinical study We provide the investigation for relevant genetic polymorphisms.

In your patient molecular diagnostic failed We extend the molecular investigation to genes or sequence areas that haven't been tested.