The Genome Diagnostics Laboratory

The Genome Diagnostics Laboratory organizes, implements and conducts analysis, related to the diagnosis and prevention of genetic diseases in Bulgaria.

  • genome analysis

  • molecular genetic analysis

  • molecular pathology analysis

  • genetic predisposition analysis

  • pharmacogenetic analysis

    The Genome Diagnostics Laboratory participates in the implementation of national prophylactic and diagnostic genetic programs.

The Genome Diagnostics Laboratory offers diagnostic genetic/genomic tests of children with reagents provided by the Ministry of Health and works with the National health insurance fund.


Genome Diagnostics Laboratory provides specialized expert opinions to various institutions, participates in the spreading of knowledge, information and advice.


Genome Diagnostics Laboratory is part of the Center for Molecular Medicine, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University-Sofia and has high-tech equipment that allows us to meet the challenges of modern biomedical science, to provide special services and research in the field of genetics/genomics of common and rare genetic diseases.


The team of the laboratory participates in national and international research projects together with leading clinical specialists from all medical fields, actively works with patient organizations and promotes the achievements of Bulgarian medical science in national and international scientific forums.


To guarantee the accuracy and reliability of the results of the offered diagnostic tests, the Genome Diagnostics Laboratory applies the recommendations of international professional organizations, the highest standards for laboratory quality and internal laboratory quality control, and regularly participates in international schemes for external quality control of the European Quality Network control of molecular genetic research (EMQN).