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Medical Genetics

About Unit

Our Medical Genetics polyclinic is at your service for the diagnosis and treatment of hereditary diseases starting from pre-pregnancy. The main services offered in the Department of Medical Genetics are as follows:

  • Infertility treatment
  • Diagnosis of hereditary (genetic) disease for newborns
  • Diagnosis of problems such as failure to grow and develop during the developmental period
  • Chronic pregnancy loss
  • Children or adults with rare diseases

What are Genetics Laboratories Services?

  • Obstetrics
  • Hemato-oncology
  • Molecular and cytogenetic testing services are offered in all branches, especially in pediatrics.

(Next Generation Sequencing) Panels and All Required Exome Analyzes (WES)

Thanks to these systems, every gene in a person is analyzed and scanned for the diagnosis of nearly 7000 diseases.

With simultaneous screening, "Exom sequence analysis" (WES), clinical exome sequence analysis (CES) and NGS panels tests are performed. At the same time, the diagnosis of problematic genes is carried out in order to make the necessary diagnosis for people who cannot be diagnosed as a result of the tests and who have neurometabolic / metabolic diseases.

Preimplantation Genetic Diagnosis (PGD)

For diseases caused by Chromosomal disorders such as Down Syndrome, embryo extraction is performed during the IVF process and Preimplantation Genetic Diagnosis is made.

Preimplantation Genetic Diagnosis is also performed in all single gene diseases such as thalassemia.

NIPT (Non Invasive Prenatal Tests) and Fetal DNA

In this system, where all chromosomes of the fetus can be scanned structurally and numerically (Non Invasive Prenatal Screening), diagnosis of many single gene diseases (Non Invasive Prenatal Diagnosis) is performed.

Next-Generation Sequencing technology is used in the diagnosis. With this technology, the diagnosis of single gene diseases is carried out from the blood of the pregnant mother-to-be.

NGS Test Panels

  • Hematology Diseases (Coagulation Deficiencies, Bone Marrow Insufficiency, etc.)
  • Endocrine Disorders (Diabetes-Obesity etc.)
  • Neurology (Neuromuscular Diseases, Neuropathies etc.)
  • Cardiovascular (Arrhythmias, Cardiomyopathy, Connective and Vascular Tissue Diseases…)
  • Cancer Genetics Panels (Breast and Ovarian Cancer, Hereditary Cancers Comprehensive Screening)
  • Metabolic Disorders (Lysosomal Storage Disorders and Glycogen Storage Disorders)

Ask the Doctor, Find Out