Genetic Testing

Bone marrow biopsies are cytogenetically analyzed in the lab of Prof. Dr. Brigitte Schlegelberger at the Medical School Hannover. Genetic testing for Shwachman Diamond Syndrome is performed at the University Hospital Tübingen (Germany), in the lab of by Prof. Dr. Julia Skokowa. Genetic testings are analyzed in cooperation with the Institute for Human Genetics lead by Prof. Dr. Olaf Rieß at University Hospital Tübingen. In Tübingen we provide single gene, whole exome or whole genome analyses.  

For the routine screening for secondary leukemias in SDS patients, analyses for acquired mutations in the gene of the G-CSF-receptor (CSF3R) and the TP53 protein (TP53) are performed in the lab of the SDSR-EU lead by Prof. Dr. Julia Skokowa.

Please use the corresponding forms for sending samples to Tübingen. You can access and download the forms as PDF in the download area of our site.