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Medical Genetics and Molecular Diagnosis Laboratory

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The Medical Genetics and Molecular Diagnostics Laboratory is an advanced research, diagnostic, and R&D center established for the molecular-level identification of various biological conditions, particularly hereditary and acquired diseases, the analysis of genetic variations, and the development of personalized treatment models.

What Is the Medical Genetics and Molecular Diagnostics Laboratory? / What Is Its Purpose?

Primary Objective: The primary objective of the Medical Genetics and Molecular Diagnostics Laboratory is to identify predispositions to diseases resulting from genetic variations (polymorphisms and mutations), develop molecular tests with high diagnostic value, and conduct biotechnological R&D studies under the motto of “developing national diagnostic kits” in line with Türkiye’s goals of domestic production.

Key Features: The laboratory focuses on Personalized Medicine and the development of molecular diagnostic kits, which are regarded as among the most critical advances of the molecular era. The design and validation of new test kits that will further strengthen the patient-physician relationship in clinical processes are among the laboratory’s primary objectives.

Academic Contribution: The laboratory serves as a comprehensive academic hub where the molecular studies of graduate theses are conducted. It provides an open R&D ecosystem that enables all academics to collaborate on DNA-, RNA-, and protein-based analyses and facilitates the development of interdisciplinary projects.

Equipment and Technical Infrastructure Available in the Laboratory

The laboratory is equipped with the following infrastructure and system groups, enabling highly sensitive nucleic acid- and protein-based analyses of tissue and fluid samples:

  • Real-Time PCR Systems: High-sensitivity amplification systems used for gene expression analyses, quantitative measurements, and pathogen detection.
  • Thermal Cyclers (Conventional PCR Systems): Nucleic acid amplification systems used to specifically amplify target DNA regions prior to the analysis of polymorphisms and mutations.
  • Electrophoresis and Imaging Units: Gel electrophoresis systems used to separate DNA, RNA, and protein molecules according to their size and to transfer the results to digital media for analysis, including gel casting and imaging systems.
  • Nucleic Acid and Protein Isolation Stations: Optimized centrifugation, vortexing, and homogenization equipment used to isolate high-purity, high-concentration DNA, RNA, and proteins from various tissue samples.
  • Spectrophotometric Measurement Devices: Microvolume analyzers used to determine the quantity and purity of isolated biological samples (DNA/RNA/Protein) at the microliter level.

Research and Application Areas

All scientific activities and testing protocols conducted within the laboratory focus on the following areas of expertise:

  • Genotyping and Variant Analysis: Detection of genetic variations, polymorphisms, and mutations that may predispose individuals to certain diseases.
  • Molecular Diagnostic Kit R&D Studies: Theses and research projects aimed at developing original, domestically produced molecular diagnostic kits to reduce dependence on external sources in clinical diagnostic processes.
  • Isolation Processes from Biological Samples: High-yield isolation of DNA, RNA, and proteins from various tissues and biological specimens.
  • Gene Expression Analyses: Quantitative investigation of changes in gene expression at the cellular level using the Real-Time PCR method.

Contributions to Students and the Industry

  • Support for National Industry and Biotechnology: Domestic diagnostic kit projects conducted in the laboratory directly contribute to domestic production in the healthcare sector, generating economic and technological added value.
  • Personalized Medicine Approach: Studies focused on personalized treatment contribute to the training of specialists who will shape the future applications of medicine and pharmacy.
  • Open Collaborative Research Culture for Academics: The infrastructure, which is available to all academics and graduate students, enables the development of multicenter and high-budget projects within the university.

Frequently Asked Questions

Inventory

Tıbbi Genetik ve Moleküler Tanı Laboratuvarı - Görsel 549 - 1Tıbbi Genetik ve Moleküler Tanı Laboratuvarı - Görsel 550 - 2Tıbbi Genetik ve Moleküler Tanı Laboratuvarı - Görsel 551 - 3Tıbbi Genetik ve Moleküler Tanı Laboratuvarı - Görsel 552 - 4Tıbbi Genetik ve Moleküler Tanı Laboratuvarı - Görsel 553 - 5Tıbbi Genetik ve Moleküler Tanı Laboratuvarı - Görsel 554 - 6

Videos

Research Activities

Projects

  • ATXN2 Genindeki rs7137828 Varyantının Sinaptik Plastisite Temelli Madde Bagımlılıgı ile Iliskisinin Arastırılması

    Category: TÜBİTAK

    Application No: 1919B012532102

    Date: 2025-11-12

Publications
Publications indexed in Scopus: 2Number of Other Publications: 3

Congresses Attended

  • ORAL MİKROBİYOTA VE KRONİK OROFASİYAL AĞRI

    Conference Name: Uluslararası kongre ve sempozyumlarda sözlü olarak sunulan ve özet metin olarak yayımlanan tebliğ

    Date: 2026-09-04

    Participants:Doç. Dr. NESLİHAN TINASTEPE

  • The Role of STAG2 in Megakaryocyte Differentiation

    Conference Name: Uluslararası kongre ve sempozyumlarda poster olarak sunulan ve yayımlanan tebliğ

    Date: 2026-06-13

    Participants:Dr. Öğr. Üyesi BURCU TÜRKGENÇ

  • ASSOCIATION OF A BRIP1 LOSS-OF-FUNCTION VARIANT WITH UVEAL MELANOMA: A CASE REPORT

    Conference Name: Ulusal kongre ve sempozyumlarda sözlü veya poster olarak sunulan ve yayımlanan tebliğ

    Date: 2026-05-06

    Participants:Dr. Öğr. Üyesi BURCU TÜRKGENÇ

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Creation DateMay 16, 2025