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 by email under firstname.lastname@example.org, if you have further questions regarding genetic testing or ongoing research projects in our laboratories.
Bernhard Weber, Ph.D. Ute Hehr, M.D. Ines Schoenbuchner, M.D.