Welcome to our Human Genetics Center Regensburg!

With more than 20 years of experience in genetic research and testing we are a leading reference laboratory for a wide spectrum of Mendelian disorders specifically affecting the head, eye and central and peripheral nervous system. Additional focal points of our laboratory are disorders of the liver with or without cholestasis and disorders affecting surfactant metabolism.

We offer a pretest advisory service based on individual clinical findings of your patient, including evaluating your patients cMRI (congenital CNS Malformations) or liver histology sections (congenital cholestasis). Molecular genetic testing is performed in our accredited laboratories utilizing both, conventional Sanger sequencing and disease specific Next-Generation Sequencing (NGS) panels. In addition, we offer dose sensitive assays to detect gene specific copy number variations by MLPA.

All observed genetic alterations are evaluated considering the provided individual clinical information and explained in an individual medical report. We also offer carrier testing for relatives and in subsequent pregnancies.

As a University based cooperation, our research groups directly contribute to the further elucidation of the pathogenesis and genotype phenotype correlations. As part of a large network of international associates we aim to ultimately develop novel gene-based supportive and therapeutic strategies.

Please contact us, if you have further questions regarding

  • genes, tested in our labs;
  • required samples, forms, and shipping;
  • costs and TAT; 
  • methods of genetic testing, applied at our laboratories for the disorder you are interested in;
  • clinical findings in your patients and possible individual genetic testing strategies;
  • current clinical genotype phenotype research projects.

We would like to thank all our patients and their families and our associates and colleagues around the globe for sharing their experience, work, ideas and time with us!

Together, we aim to continue offering a personal medical genetics service of the highest quality for patients with genetic disorders, for their families and for those physicians dedicated to their treatment and supportive care.


Bernhard Weber, Ph.D.    Ute Hehr, M.D.    Ines Schoenbuchner, M.D.