Asst. Prof. Dr. ÖMER FARUK KARAÇORLU

Medical Genetics

Medipol Mega University Hospital
ÖMER FARUK KARAÇORLU

Birthplace

ELAZIĞ

Medical Areas of Interest

Clinical Genetics

  • Diagnosis of rare genetic diseases
  • Neurodevelopmental disorders (autism, developmental delay, epileptic encephalopathies)
  • Congenital anomalies and syndromic diseases
  • Genetic evaluation of metabolic and inherited disorders
  • Investigation of familial diseases

Prenatal Genetics

  • Prenatal genetic counseling
  • Interpretation of non-invasive prenatal testing (NIPT)
  • Evaluation of amniocentesis and chorionic villus sampling results
  • Genetic analysis of fetal ultrasonographic anomalies
  • Genetic investigation of recurrent pregnancy loss

Oncogenetics

  • Evaluation of hereditary cancer syndromes
  • Germline and somatic variant analysis
  • Cancer gene panels
  • Liquid biopsy and tumor genomic analyses
  • Molecular genetic evaluation for targeted therapies

Molecular Genetics and Genomics

  • Next-generation sequencing (NGS) analyses
  • Whole exome sequencing (WES)
  • Whole genome sequencing (WGS)
  • Copy number variants (CNV) and structural variant analyses
  • Variant interpretation (ACMG criteria) and clinical correlation

Cytogenetics

  • Karyotype analysis
  • FISH analyses
  • Microarray (aCGH / SNP array)
  • Evaluation of chromosomal abnormalities