In order to provide the best possible care for patients with rare diseases, we established the Centre for undiagnosed rare diseases within the Clinical institute of genomic medicine.

New genetic methods in clinical diagnostic such as exome/genome sequencing and comparative genomic hybridization provide significantly better possibilities for the diagnosis of rare – genetic diseases. CIGM is the only tertiary centre in the field of genomic medicine which introduced in diagnostic setting the latest genetic diagnostic methods.

The Centre represents the first regionally specialized unit for diagnostic of undiagnosed rare diseases.