Diagnostic laboratories of IIMD specialize in diagnosis, monitoring of compensation, treatment, genetic counseling and prenatal diagnosis of inherited metabolic disorders (IMDs). Main activity includes diagnostics of several thousand IMDs at different levels (metabolite, enzyme / protein, tissue / cell, gene) in biochemical, enzymatic and molecular genetic labs. The Insitute also performs the examination of dry blood spots by tandem mass spectrometry in about 75% of newborns in the nationwide neonatal screening programme.
