Department of Medical Genetics Ankara Etlik City Hospital

Department of Medical Genetics Ankara Etlik City Hospital

Advancing genomic medicine across rare disease and cancer.

An academic medical genetics department in Ankara, Türkiye, working across the full genomic spectrum — from inherited predisposition and rare-disease diagnosis to tumour genomics and molecular stratification — and training the next generation of medical geneticists.

Research programmes Publications

Two flagship research programmes

All research

The department pursues two scientific programmes of equal standing, supported by a shared methodological and technological layer.

Flagship research programme

Cancer Genetics & Genomics

From inherited cancer susceptibility to tumor genomics, liquid biopsy and precision oncology.

Research themes

  • Hereditary Cancer & Cancer Predisposition
  • Tumor Genomics & Precision Oncology
  • Liquid Biopsy & Circulating Tumor DNA
  • Hematologic Malignancy Genomics

Explore the programme

Flagship research programme

Rare Disease Genetics & Genomics

From deep phenotyping and variant interpretation to molecular diagnosis and discovery across rare genetic disorders.

Research themes

  • Neurogenetics & Neurodevelopmental Disorders
  • Syndromic Disorders & Genotype–Phenotype Discovery
  • Neuromuscular & Skeletal Genetics
  • Metabolic, Mitochondrial & Cardiovascular Genetics
  • Cytogenomics & Structural Variation

Explore the programme

Shared across both programmes

Cross-Cutting Methods

A shared methodological and technological layer — not a third disease programme.

Research highlights

Full publication database

Rare Disease Genetics 2026

A Founder Allele in SGCG Combining Missense Variant and Multi-Exon Duplication in Turkish Patients With Sarcoglycanopathy

Neuromuscular & Skeletal Genetics

Clinical Genetics

Rare Disease Genetics 2026

ACAN-Related Short Stature and Skeletal Dysplasia: Expanding the Phenotypic and Genotypic Spectrum in a 47 Patient Cohort From Turkey

Neuromuscular & Skeletal Genetics

American Journal of Medical Genetics Part A

Rare Disease Genetics 2026

Atypical Biallelic Inheritance in "Dominant" Genes: Evidence From a Large-Scale Consanguineus Exome Cohort

Syndromic Disorders & Genotype–Phenotype Discovery

American Journal of Medical Genetics Part A

Rare Disease Genetics 2026

Broadening the Okur-Chung syndrome phenotype: adult-onset metabolic features and a contiguous 20p13 deletion in a Turkish multicenter cohort

Syndromic Disorders & Genotype–Phenotype Discovery

Journal of Human Genetics

Rare Disease Genetics 2026

Integrated Clinical, Molecular, and Machine Learning Assessment of Familial Hypercholesterolemia

Metabolic, Mitochondrial & Cardiovascular Genetics

Life

Cancer Genetics 2026

Monoallelic germline RAD51C, RAD51D, and BRIP1 variants in hereditary cancer testing: Variant spectrum and clinical counselling implications

Hereditary Cancer & Cancer Predisposition

Mutation Research

Selected publications

All 63 records

A Founder Allele in SGCG Combining Missense Variant and Multi-Exon Duplication in Turkish Patients With Sarcoglycanopathy

Sezer A; Büke A; Kazan HH; Kablan A; Alay MT; Talim B; Yüksel D; Saat H

Clinical Genetics · 2026

DOI PubMed

Rare Disease Genetics Neuromuscular & Skeletal Genetics

ACAN-Related Short Stature and Skeletal Dysplasia: Expanding the Phenotypic and Genotypic Spectrum in a 47 Patient Cohort From Turkey

Kolkıran A; Sarıkaya Özdemir B; Sezer A; Kulalı MA; Daşar T; Savaş Erdeve Ş; Alay MT; Uçan B; Kablan A; Taşdelen E; Dinçsoy Bir F; et al.

American Journal of Medical Genetics Part A · 2026

DOI PubMed

Rare Disease Genetics Neuromuscular & Skeletal Genetics

Atypical Biallelic Inheritance in "Dominant" Genes: Evidence From a Large-Scale Consanguineus Exome Cohort

Taşdelen E; Tekbaş UC; Kolkıran A; Çetinkaya S; Kılıç M; Sezer A

American Journal of Medical Genetics Part A · 2026

DOI PubMed

Rare Disease Genetics Syndromic Disorders & Genotype–Phenotype Discovery

Broadening the Okur-Chung syndrome phenotype: adult-onset metabolic features and a contiguous 20p13 deletion in a Turkish multicenter cohort

Doğan Ç et al.; includes Mustafa Tarık Alay

Journal of Human Genetics · 2026

DOI PubMed

Rare Disease Genetics Syndromic Disorders & Genotype–Phenotype Discovery

Integrated Clinical, Molecular, and Machine Learning Assessment of Familial Hypercholesterolemia

Alay MT; Deniz A; Saat H; Erdem HB

Life · 2026

DOI PubMed

Rare Disease Genetics Metabolic, Mitochondrial & Cardiovascular Genetics

People

Full directory

9 medical geneticists, 16 residents in specialty training and a 31-member laboratory and operations team.

Clinical genomics

Capability spectrum

The department’s diagnostic service spans germline and somatic testing, cytogenomics, targeted molecular diagnostics and prenatal genetics, with a catalogue of 58 phenotype-driven next-generation sequencing panels. These pages are informational: they describe capability, not a route to order a test.

Education & training

A four-year Medical Genetics residency

Specialty training aligned with Türkiye’s national curriculum, integrating clinical genetics, genomic diagnostics, laboratory medicine, case-based learning and research.

Education & training

  • Laboratory training across NGS, cytogenetics and cytogenomics, molecular diagnostics, prenatal genetics and molecular oncology and haematology — at least 18 months of diagnostic laboratory rotation across the programme.
  • Structured teaching through scheduled seminars, case presentations and current-literature review.
  • Clinical rotations in medical oncology, haematology, obstetrics and gynaecology, and paediatrics, as set by the national curriculum.
  • Research and thesis training with faculty mentorship in project development, variant interpretation, reporting and manuscript preparation.

Current projects

All projects

TÜSEB

Development of a Domestic Hereditary Cancer Panel

Researcher · 26 December 2025 – present

Cancer Genetics

TÜSEB A Group Emergency R&D

Investigation of Structural Variants in Parkinson Disease Patients with Heterozygous PRKN Variants Using Optical Genome Mapping

Researcher · 11 July 2025 – present

Rare Disease Genetics

TÜBİTAK

Angelman Syndrome in Children: Sensiz As'La

Researcher · 22 May 2024 – present

Rare Disease Genetics

News & updates

All updates

Departmental announcements will appear here. In the meantime, the most recently published records from the department’s publication database:

  • 2026 · Journal of Pediatric Endocrinology and Metabolism

    A 2-year-old girl with merged phenotypes: galactosemia and Coffin-Lowry syndrome

  • 2026 · Journal of Pediatric Endocrinology and Metabolism

    A comparative analysis of all reported patients with MTHFS-related neurodevelopmental disorder

  • 2026 · Clinical Genetics

    A Founder Allele in SGCG Combining Missense Variant and Multi-Exon Duplication in Turkish Patients With Sarcoglycanopathy

  • 2026 · American Journal of Medical Genetics Part A

    ACAN-Related Short Stature and Skeletal Dysplasia: Expanding the Phenotypic and Genotypic Spectrum in a 47 Patient Cohort From Turkey