- Clinical diagnosis of patients with genetic disorders
- Chromosome analysis
- Prenatal diagnosis
- Metabolic screening
- Molecular diagnosis of genetic disorders (Fra X, micodeletions of Y chromosome, CML for Philadelphia, Duechenne muscle dystrophy, spinal muscle atrophy)
- Participation in scientific research in cooperation with other departments of the Medical Research Institute
- Teaching activities include teaching students applying for MSc and PhD in Human Genetics.