Genetic counselling

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


The laboratory performs pre- and post-natal chromosome and molecular cytogenetic analyses (MLPA, array CGH, FISH).

Molecular genetics

The Molecular Genetic Laboratory performs pre- and post-natal DNA analyses of more than 50 rare Mendelian disorders. Special interests include paediatric, neurogenetic and musculo-skeletal disorders.