Internal Medicine




The department of genetics is a branch of science that provides services in the diagnosis and management of genetic diseases and familial and personal genetic counseling. Our department has a solution-oriented approach that can guide patients and clients in diagnosis, treatment and prevention of diseases by interpreting clinical findings with laboratory results, thanks to Medical Genetics experts who closely follow scientific developments and technological infrastructure.
In our DNA, which we receive from our parents as a genetic inheritance, there is all the information that includes our individual characteristics. This information is related to our individual characteristics such as blood type, height and weight, and to features that determine susceptibility or resistance to hundreds of different conditions such as diabetes, cancer and cardiovascular diseases. As a result of the interaction of this information in our DNA with environmental factors, our personal characteristics and diseases may occur. Today, we have entered a brand new era in which the key to a long and healthy life is in our hands with the knowledge and technologies we have reached in the field of genetics.

Genetic diseases in the family history and diseases that have not been diagnosed yet but occur in many members of the family (For example, cancer, diabetes, neurological disease, eye disease, heart disease, etc. disorders in more than one person, especially before the age of 50), history of loss of a baby / child with an unknown cause, relative Researching many medical conditions such as post-marriage child planning and family history of cancer and providing counseling to people about this is carried out in the Department of Medical Genetics.


Why Are Carrier Tests Used for Genetic Diseases?
Contrary to popular belief, carriers for genetic diseases are quite common. With current medical information, it is known that 4 out of every 100 people are carriers for Phenylketonuria and 4 out of 100 people are carriers for Cystic Fibrosis, 2 out of every 100 people are carriers for Spinal Muscular Atrophy (SMA) and 2 out of 100 people are carriers for Mediterranean Anemia (Thalassemia). In the Department of Medical Genetics, all carrier tests can be performed quickly and successfully during pregnancy as well as before marriage or possible planned pregnancies, and the most appropriate way to have a healthy pregnancy and baby can be planned.

What is Preimplantation Genetic Diagnosis (PGD)?
PGD ​​is a genetic diagnosis method used to rule out the possibility of these diseases in the baby to be born by applying genetic diagnosis and in vitro fertilization practices together in order for couples with a known hereditary genetic disease to obtain a healthy baby.
The PGD procedure can be applied to almost all genetic diseases of known cause, and some of these diseases can be seen below as an example:

  • Spinal Muscular Atrophy (SMA)
  • Thalassemia (Mediterranean Anemia)
  • Duchenne/Becker Muscular Dystrophy
  • Fragile X
  • Phenylketonuria
  • Chromosomal diseases etc.


What is Non-Invasive (Non-Invasive) Prenatal Genetic Diagnosis (NIPT)?
NIPT is one of the earliest and easiest screening tests that can be performed from maternal blood for many genetic disorders that threaten infant health, especially chromosomal diseases. From the 9th week of pregnancy, the baby's free-floating DNA reaches a level that can be analyzed in the mother's blood. Since the sample is taken from the mother's blood, there is no possibility of harming the baby. The percentage of incorrect results is very low.


How does the NIPT process work?
The NIPT process is pretty easy. The blood sample taken from the mother's arm, as in any test, is reported within 7-14 days after the analysis. Genetic counseling can be given by our experienced Medical Genetics experts before and after the test.


Genetic Counseling in Cancer
To provide information about the course of the disease, treatment methods, recurrence risks and solutions for the prevention of the disease, planning the necessary tests and providing information about the results of these people who have a history of cancer in themselves or in their families, or who have a hereditary cancer gene mutation or who are at risk of carrying them. Our Medical Genetics specialists serve our clients and patients.

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