Please find all registration, consent and lab forms below. You can access the pdf forms by clicking the corresponding text.
Please find all registration, consent and lab forms below. You can access the pdf forms by clicking the corresponding text.
Dear patients, please find below publications on neutropenia. You can also select topic-related manuscripts, by clicking on the following selection of key words:
Autoimmune Neutropenia Basic Research Congenital Neutropenia Congenital Neutropenia - ELANE+ Cyclic Neutropenia Gycogen Storage Disease Type 1b Kostmann's Disease - HAX1 Leukemia Pregnancy Shwachman-Diamond Syndrome Therapy
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...