Department of Human Genetics (337031)
Ortrud K. Steinlein
Specialized in: human genetics
The Department of Human Genetics at the Hospital of the Ludwig-Maximilians-University offers in addition to genetic counseling also the full range of classical cytogenetic examinations (chromosomal analyses) as well as molecular genetic and molecular cytogenetic tests. Specialists of the department provide counseling services on a large number of genetics-related issues including familial genetic diseases, congenital abnormalities, developmental disturbances, etc. The chief physician of the department is Prof. Dr. med. Ortrud Steinlein.
The department offers the full range of laboratory diagnostics including cytogenetics, molecular genetics and noninvasive prenatal testing (NIPT). As a rule, chromosome examinations in children and adults are carried out from lymphocytes (venous blood), in special cases also from fibroblasts (skin biopsy). Indications include: unclear mental disabilities in the family anamnesis, recurrent miscarriages as well as children with physical abnormalities, congenital abnormalities and developmental delays. Prenatal chromosome examinations of the cells of the unborn baby are performed from chorionic and placental villi, amniotic fluid cells or from lymphocytes (cord blood). Possible indications are advanced maternal age, abnormalities seen on ultrasound or known chromosomal abnormalities in the family anamnesis.
In the molecular genetics laboratory various genetic diseases are examined. These include in addition to hereditary forms of epilepsy also AZF diagnostics in treatment of fertility problems, coagulation diagnostics in the course of examination of recurrent miscarriages as well as diagnostics of various genetic diseases or hereditary tumor syndromes.
Molecular genetic analyses:
- Azoospermia factors (AZF deletions)
- Birt-Hogg-Dubé-syndrome (FLCN)
- Heterotaxy syndrome diagnosis (NODAL/CFC1/ZIC3)
- Familial malignant melanoma (CDK4/CDKN2A)
- Multiple endocrine neoplasia type 2a (RET-protooncogene)
- Thrombophilia diagnosis (factor V Leiden, prothrombin)
- Exception of Y-Chromosome in case of Turner sydnrome
The range of services of the department:
- Genetic counseling
- Genetic diseases in the family anamnesis
- Congenital abnormalities and developmental disturbances
- Recurrent miscarriages
- Laboratory diagnostics
- Molecular genetics
- noninvasive prenatal testing (NIPT)
- Genetic research
Department of Human Genetics.
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