Free genetic analysis program for rare diseases

    G. Zhvania Pediatric Academic Clinic under TSMU announces free genetic analysis program for rare diseases (biomarkers clinical trial)

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    With the initiative of Georgian Society of Medical Genetics and Epigenetis ( and Centogene AG, first time in Georgia an international multicenter epidemiological clinical study on biomarkers is launched at the G. Zhvania Academic Pediatric Clinic under Tbilisi State Medical University. The aim of the study is to develop new MS-based biomarkers for the early and sensitive diagnosis of certain rare genetic conditions on patient’s dry-blood-spot sample.

    Genetic analysis of the corresponding disease will also be performed in the frames of the program. All the costs related to the study will be covered by Centogene AG, which will allow patients to do corresponding genetic testing free of charge.

    The study will last till the end of 2019 year.

    The study includes following conditions:

    – BioCyFi – Biomarker for Cystic Fibrosis

    – BioDuchenne – Biomarker for Duchenne disease

    – TuScCom – Biomarker for Tubersous Sclerosis Complex

    – BioCDS – Biomarker for Creatine Deficiency Syndromes

    – BioAlport – Biomarker for Alport Disease

    – BioGlycogenosis – Biomarker for  Glycogen Storage Diseases

    – BioNPC – Biomarker for Niemann Pick Disease Type C

    – BioGaucher – Biomarker for Gaucher disease

    – BioGM1/GM2 – Biomarker for GM1/GM2 Gangliosidosis

    – BioHAE – Biomarker for Hereditary Angioedema Type 1

    – BioMeta – Biomarker for Metachromatic Leukodystrophy

    – BioMannosidosis – Biomarker for Alpha Mannosidosis

    – BioMaroteaux-Lamy – Biomarker for Maroteaux-Lamy Disease

    – BioMorquio – Biomarker for Maroteaux-Lamy Disease

    Sponsor: Centogene AG, Germany

    Study coordinator:  Prof. Dr. Arndt Rolfs, CEO at Centogene AG, Germany


    Principle investigator: Assoc. Prof.  Dr. Tinatin Tkemaladze, Department of Molecular and Medical Genetics, TSMU.  Email:, Tel: 599179190

    Detailed information about the study design and inclusion criteria can be found in the attachment and on the following link:



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