• 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.

The activities of the department include academic, research and service aspects, as the Department of Human Genetics teaches and supervises master's and doctoral theses and participates in the development of educational programs. The department also contributes to advanced scientific research in the fields of genetic mutations, rare genetic diseases, and the application of new diagnostic techniques, while publishing research in scientific journals nationally and internationally.

The department provides integrated diagnostic services including chromosome analysis, FISH tests, and DNA testing, in addition to providing genetic counselling to individuals and families. The department also participates in community service through health awareness campaigns, genetic disease prevention programs and patient support.

• Liver and gastrointestinal diseases, diagnostic and interventional gastrointestinal endoscopy
• Kidney diseases, kidney failure, and hemodialysis
• Cardiovascular diseases and preventive cardiology

• Clinical genetics
• Cytogenetics
• Biochemical genetics
• Molecular genetics

Genetic disease diagnosis – Genetic counseling – Chromosome analysis – Fluorescence in situ hybridization (FISH) – DNA and gene analysis – Genetic research – Academic education through MSc and PhD programs in Human Genetics, including practical training and supervision of scientific theses.