Molecular diagnostics or single genetic testing is the sequencing of genes associated with diseases and an interpretation of the results found. The interpretation is based on the latest knowledge and states if and to what degree the particular sequence variation is or might be related to actual or future illnesses.
We offer molecular diagnostics for all known disease-causing variants in the human genome. A 96-Capillary Sequencer of ABI is used for sequencing. We always perform bi-directional (forward and reverse) sequencing of the entire coding region of the gene of interest. The findings are summarized in a medical report which we send directly to the referring clinician. The interpretation of the results is done by Christian Wilhelm, PhD, Head of Molecular Diagnostics, and Saskia Biskup, MD PhD.
For sending us probes, please use the attached Order Form.
We need 5-10ml EDTA blood or 1µg genomic DNA (concentration of at least 50ng/µl) for the analysis. The material can be shipped by regular mail to our lab in Germany (CeGaT GmbH, Paul-Ehrlich-Str. 17, 72076 Tübingen, Germany).