
How is our height, the shape of our hair, the color of our eyes or skin determined? How can we sometimes look very different from our parents? Why can a disease that runs in our family also appear in us? The answer to all these questions is hidden in our DNA, which is present in our cells. DNA refers to the structure where all information about our body is stored, from our external appearance to the structure and functioning of our cells, tissues and organs. The length of the DNA, or deoxyribonucleic acid molecule, is 1.5 meters when lined up side by side like thread. It is tightly wound like a ball to fit inside our cells. This structure is called a chromosome.
Genes, on the other hand, refer to regions on DNA that have a specific function. If we consider DNA as a book, the meaningful sentences in the book can also be called genes. While the number of genes in a complex organism such as a human is estimated to be 20-23 thousand, this number is approximately 3 thousand in a simple bacterium.
Not every genetic disease is hereditary!
Changes in our genes can cause certain diseases. Sometimes, diseases that are in our family through the genes we inherit from our parents can also be observed in us. These diseases are called “genetic diseases.” However, it is important to remember that not every genetic disease is hereditary. For example, although cancer is a genetic disease, familial cancers only make up a small portion of this group of diseases.
The cause of many diseases such as heart, kidney, lung diseases, cancers, blood diseases, osteoporosis, asthma, allergies, immune system diseases can be genetic. Or, in the development of these diseases, hereditary factors as well as environmental factors also come into play.
Thanks to triggers, DNA and chromosome analyses performed with advanced devices at the Genetic Diseases Evaluation Center of the Florence Nightingale Hospitals Group, early diagnosis of these diseases can be achieved. It is possible to detect antigens, which are of great importance in organ and tissue transplants, as well as to identify people at risk for a hereditary disease.
Early diagnosis of genetic diseases can be made
Genetic testing is used to detect changes in a specific chromosome or gene. It is usually done using blood or other tissue samples. Today, genetic tests can be performed for different needs of each individual, such as prevention, early diagnosis, follow-up and treatment of diseases from the womb to advanced ages. Some examples of where genetic tests can be applied are:
- Investigating whether the unborn baby has a genetic disease,
- Investigating the cause of recurrent miscarriages and stillbirths,
- For confirmation of suspected classical chromosomal diseases (Down Syndrome and similar),
- In case of numerous anomalies and/or growth/developmental retardation and/or intellectual disability that can be detected from birth,
- Diagnosis, follow-up and decision-making on possible treatment approaches for genetic diseases (with a substructure) such as cancer,
- Learning whether a person is at risk of contracting a certain genetic disease or passing this disease on to future generations (children),
- Determining whether a person is predisposed to various diseases based on family history or ethnic origin.
Personalized medicine brings individual treatments to the forefront
In recent years, with the developments in genetic science, personalized medicine, which has become more important, has started to be encountered more in routine practice. While a treatment type for a certain disease may be beneficial for one person, it may not provide the same results for other patients. Personalized medicine also aims for a person to receive the right treatment, at the right time and in the right amount for the disease in question. In fact, today, it is also examined within this scope to determine the disease risks and take the appropriate precautions without waiting for the person to get sick. Although people look physically similar, they have genetic variations. The different responses that patients give to the same treatment are largely due to the genetic differences between them.
Due to this genetic variation, it is difficult and not very accurate to make collective medical predictions for many medical conditions. Therefore, personalized medicine is of great importance. Our Genetic Diseases Diagnostic Center conducts studies on breast, ovarian, colon, thyroid and hematological cancers. In short, genetic tests in cancer enable us to make healthier decisions on issues such as diagnosis, prognosis and treatment, and enable the patient to reach the most accurate and effective treatment.
In addition to cancer, there are also personalized medicine applications in many rare and common diseases. Our diagnostic center also conducts studies on cystic fibrosis and cardiovascular diseases.
Advanced screening test: Fetal DNA
Routine examinations and screening tests performed during pregnancy can identify possible anomalies in the baby. However, invasive procedures such as amniocentesis carry risks. The fetal DNA screening test can detect specific chromosomal anomalies in the baby from the mother's blood in the early weeks of pregnancy. This advanced screening test is reliable, fast and provides a high accuracy rate. Trisomy 13, 18, 21, X and Y chromosome anomalies are detected reliably with a small blood sample taken from the expectant mother's arm. This test, which is harmless to the baby, can be performed from the 10th week of pregnancy.
What Tests Are Performed at the Genetic Diseases and Diagnostic Center?
- Cytogenetic tests,
- Molecular cytogenetic tests,
- Molecular genetic tests,
- Prenatal diagnostic tests,
- Cancer genetic tests,
- Tests for neurogenetic diseases.
In addition, almost all genetic tests that can be performed for diagnostic purposes today can be reliably offered to patients through foreign laboratories with which our laboratory has agreements.
Gayrettepe Genetic Diseases Diagnosis Center
The Genetic Diseases Diagnosis Center located in Gayrettepe Florence Nightingale Hospital is one of the first diagnostic centers to receive a license from the Ministry of Health in Turkey in accordance with the Genetic Diseases Diagnosis Center Regulation, and has been providing services for more than 10 years without interruption using the latest technological devices in the fields of Cytogenetics, Molecular Cytogenetics, Molecular Genetics and Prenatal diagnosis.