Genetic Testing

Pathogenic variants associated with congenital neutropenia

Genetic testing of severe congenital neutropenia is coordinated by laboratory of SCNIR which is led by Prof. Dr. Julia Skokowa and performed by the Institute of Human Genetics, University Hospital of Tübingen led by Prof. Olaf Rieß. We provide single gene, neutropenia gene panel, whole exome or whole genome analyses by means of Next Generation Sequencing.  

Molecular genetic analysis of somatic leukemia gene panel

For the routine screening of secondary leukemia in patients with congenital neutropenia or patients undergoing long-term G-CSF treatment, analysis for acquired MDS-associated mutations is coordinated by the laboratory of SCNIR led by Prof. Dr. Julia Skokowa and carried out by the Department of Internal Medicine II at the University Hospital of Tübingen led by Prof. Claudia Lengerke. For this purpose, approximately 100 genes associated with the development of MDS and AML (including CSF3R, RUNX1, ASXL1, SETBP1) are analyzed by Next Generation Sequencing.

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.