Department of Clinical Genetics

We provide genetic testing and counseling for hereditary diseases as well as hereditary increased cancer risk.

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Department Profile

The Department of Clinical Genetics is a regional centre for genetic diagnosis and counselling of patients and families with chromosome anomalies, inborn errors of metabolism, syndromes and other inherited, congenital, and malignant disorders. We see approximately 2500 patients annually in our outpatient clinic where we diagnose and assess the risks of genetic predisposition to diseases such as cancer and perform diagnostics of syndromes. Moreover, we assist in the interpretation of genetic test results.

We offer a wide spectrum of analyses in our own laboratory, but also facilitate testing for additional genetic disorders in other laboratories.

We document incidence of genetic diseases in the population in national and international databases, develop new methods and perform research in collaboration with national and international research groups.

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Genetic Councelling

The main task of our department is to provide genetic counselling and diagnostics of monogenic disorders, congenital malformations and suspected syndromes. This includes both prenatal and postnatal counselling.

Molecular genetic and cytogenetic diagnostics

The Molecular Genetic Laboratory performs pre- and postnatal DNA analyses of more than 50 rare Mendelian disorders. Special interests include prenatal diagnostics, paediatric, neurogenetic and musculo-skeletal disorders.
The laboratory performs pre- and postnatal chromosome and molecular cytogenetic analyses (MLPA, Sanger sequencing, fragment analysis, array CGH, OGM, karyotyping, FISH).

The laboratory offers advanced analysis based on NGS including NIPT (non invasive prenatal testing), a range of NGS based panels and clinical exome analysis.

Review our lists of analyses