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Centre for Clinical Pathology, Pharmacy and Hygiene

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Institute for clinical genetics with practice for Human Genetics

Medical Director
Dr. Helmut Heilbronner

Telephone +49 (0)711 278-74001
Telefax +49 (0)711 278-74000
h.heilbronner@klinikum-stuttgart.de

The health care service mission of the Institute of Clinical Genetics includes in Stuttgart Hospital the consultation cooperation especially with the Paediatric Hospital and Women's Hospital (genetic laboratory testing and clinical genetic consultations). Genetic laboratory tests are also performed for many other hospitals in Stuttgart region.

All genetic laboratory tests and genetic counselling of the institute will be provided in the affiliated Centre for Human Genetics also used for outpatient services

Treatment and care priorities

Clinical genetic diagnosis (syndrome diagnosis)
Genetic counselling
Prenatal and postnatal genetic laboratory diagnosis
- Chromosome analysis
  - Constitutional aberrations
  - Acquired aberrations (Tumour cytogenetics)
- Fluorescent in situ hybridization (FISH diagnostics)
  - Constitutional aberrations: e.g. Angelman Syndrome, Cri-du-chat syndrome, Miller-Dieker syndrome, microdeletion 22 syndrome (DiGeorge syndrome, VCFS), Prader-Willi syndrome, Williams-Beuren syndrome, Wolf- Hirschhorn syndrome
  - Acquired aberrations (Tumour molecular cytogenetics)
- DNA diagnostics: e.g., adrenogenital syndrome, Angelman syndrome (including sequencing UBE3A gene), cystic fibrosis, DiGeorge syndrome, Fragile X syndrome, Meulengracht disease, myotonic dystrophy, periodic fever syndromes (familial Mediterranean fever, TRAPS, MKD, CAPS), phenylketonuria, MCADD efficiency, Prader-Willi syndrome, deafness (autosomal recessive: Connexin 26 gene, connexin 32 gene), thalassaemias, haemoglobinopathies, factor V Leiden mutation, prothrombin mutation, “PCR rapid test”

Selected services (case number)

2008	2009	2010
685	677	703	Genetic counselling
677	669	572	Tumour Cytogenetics
1,429	1,454	1,313	DNA tests

Institute for clinical genetics with practice for Human Genetics

Klinikum Stuttgart – Olgahospital
Bismarckstrasse 8
70176 Stuttgart
Germany

Telephone +49 (0)711 278-74001
Telefax +49 (0)711 278-74000
h.heilbronner@klinikum-stuttgart.de

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