Single Gene Testing

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 samples, please use the attached Order Form .

Sample requirements

Samples can be shipped on a daily basis by regular mail. Special shipping instructions (e.g. overnight) are not required. Blood samples should be received by CeGaT within 2-3 business days after drawn from the patient. However, these blood sample should not be exposed to direct sunlight. Transportation material can be requested free of charge at +49 7071 565 44 00 or via email info@cegat.de.

Blood

5 - 10 ml EDTA blood is required for the analysis. The blood should be drawn into an EDTA Monovette (purple top EDTA tube) and be spun lightly to avoid partial clotting. Label the Monovette with the patient's full name, date of birth, and the date of the blood draw. Please send the Monovette together with the order form and letter of referral.

The material can be shipped by regular mail to our lab in Germany:
CeGaT GmbH
Paul-Ehrlich-Str. 17
72076 Tübingen
Germany

DNA

Isolated DNA samples can also be sent for analysis. The DNA sample should have 5 µg genomic DNA (concentration of at least 50 ng/µl).

Report request by phone

The ordering physician can request a report by phone. Please do not hesitate to contact us via phone at +49 7071 565 44 00.

Prices and payment

For price information please contact us at info {at} cegat.de or by using our Contact Form. Payment is possible by cash remittance or by credit card.