ECEGEN Genetic Diseases Evaluation Center has a multidisciplinary management structure where clinical diagnosis, laboratory operations, bioinformatics modeling, and patient genetic counseling are conducted in full synergy. Our center is structured in full compliance with TS EN ISO 15189:2023 international medical laboratory accreditation standards.
Leadership & Core Organizational Bodies
- Medical Directorship & Scientific Consultation: Governs the laboratory's clinical vision, diagnostic quality standards, bioethics, and medical consultation procedures, led under the guidance of our founder and director Prof. Dr. Zeynep Ocak.
- Laboratory Technical Coordination: Oversees the operational workflow of molecular genetics, cytogenetics, molecular cytogenetics (FISH/aCGH), and WES/NGS sequencing platforms, instrument calibrations, and reagent quality assurance.
- Bioinformatics & Genomic Data Analysis Unit: Manages raw data processing (FASTQ/BAM/VCF), algorithmic variant filtration according to ACMG/AMP guidelines, and clinical reporting workflows.
- Quality Management & Accreditation Unit: Coordinates continuous adherence to ISO 15189 standards, daily Internal Quality Control (IQC) calibrations, and international External Quality Assessment (CAP, EMQN, GenQA, RfB) proficiency testing programs.
- Client Services & Patient Coordination: Manages patient reception, pre-analytical sample intake, barcoding and identity verification, appointment scheduling, and final report delivery.
- Corporate Relations, Institutional Partnerships & Finance: Coordinates partnerships with private health insurance providers, hospitals, IVF clinics, and academic research institutions.
Laboratory Operational Workflow
Our standardized 4-stage diagnostic workflow from specimen intake to report delivery:
- 1. Pre-Analytical Stage (Intake & Verification): Specimen transport conditions (temperature/cold chain), requisition form, and informed consent are verified, barcoded, and dispatched to the respective laboratory unit.
- 2. Analytical Stage (Laboratory Testing): High-precision DNA/RNA extraction, NGS sequencing, Sanger confirmation, or cytogenetic chromosome culturing are performed under strict SOP protocols.
- 3. Bioinformatics & Clinical Interpretation: Genomic data is filtered across global clinical databases (ClinVar, gnomAD, HGMD) and cross-referenced with patient phenotypic findings.
- 4. Post-Analytical Stage (Medical Specialist Sign-off & Delivery): Findings are reviewed and dual-authorized by Medical Genetics Specialists before being delivered to the patient and referring physician.
