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Medical Genetics

Medical Genetics Department directly interacts with patients and also operates the Genetic Disease Diagnosis Center, where genetic tests for suspected diseases in patients are conducted to ensure compatibility between the disease and test results, and provide clear information to the patient regarding the results. At our Genetic Disease Diagnosis Center, genetic tests for diagnosis, monitoring, and treatment of many diseases are conducted, and new tests continue to be added in line with the constantly evolving developments in medicine.

With advancements in medicine, the use of genetic tests has been initiated in almost every field of medicine, including oncology and hematology, and the Medical Genetics Department has collaborated with many specialties in this regard.

CANCER GENETICS With our cancer genetics studies, we provide services to individuals who have certain types of cancer themselves, in their first-degree relatives, or in their relatives. Breast, ovarian, colorectal, pancreatic, uterine, gastric, some prostate, and thyroid cancers are among the most common types. Especially for certain types of cancer (ovarian cancer, pancreatic cancer, male breast cancer, pheochromocytoma, neuroendocrine tumors), the presence of the following conditions significantly increases the genetic risk for cancer: Specific characteristics of cancer (triple-negative breast cancer, high-grade or metastatic prostate cancer), diagnosis at a young age (breast and colorectal cancer under 50 years old), occurrence of multiple or bilateral cancers (breast, kidney, etc.) in the patient or their relatives. Individuals with related cancer types within the same branch of their family (breast/ovarian, colorectal/uterine, sarcoma/leukemia/brain tumor) also constitute another risk group.

Genetic tests enable the detection of genetic predisposition to cancer within a family, identification of specific treatment options, implementation of screening programs offering early diagnosis opportunities for at-risk individuals, and consideration of preventive surgical options.

MUSCLE DISEASE GENETICS Muscle diseases (myopathies), which can be seen in almost every age group, are among the diseases that significantly restrict daily life and progress rapidly. Genetic factors play a major role in muscle diseases, which are often observed in individuals with a family history of muscle disease and can also be observed in 2-3 generations. There is no definitive treatment for muscle diseases, which can occur congenitally or in childhood, adolescence, and old age. Physical therapy and rehabilitation are used to strengthen and correct the patient’s muscles. Muscle disease causes difficulty for the patient when climbing stairs, walking, and getting up after sitting. Muscle disease, which significantly restricts daily life over time, is a commonly seen condition in society. In the later stages of the disease, it leads to weakness in the muscles by causing weakness in the muscles due to abnormalities in the structure and function of muscle cells, also known as muscle and nerve diseases.

HEARING LOSS GENETICS Deafness affects more than 250 million people worldwide, making it the most common sensory impairment and a widespread disease that reduces the quality of life. Field studies indicate that genetic factors are responsible for at least half of the cases of deafness in childhood. Genetic causes of hearing loss are generally classified as syndromic and non-syndromic hearing loss. This classification is based on the presence or absence of additional findings accompanying deafness in the patient. Determining the underlying genetic cause of hearing loss in affected individuals is important for understanding the prognosis of the disease, providing accurate counseling to the family, and for prenatal diagnosis. At the same time, studies conducted on these patients elucidate the genes involved in hearing function and their dysfunctional roles. The priority genes for mutation screening vary from one population to another, and molecular genetic tests can be associated with patient clinics, with certain genes being screened as a priority based on the disease phenotype. Knowledge about the genes responsible for the pathogenesis of the disease is increasing exponentially, and new genes are constantly being added. In the near future, it is expected that children born deaf will receive genetic diagnoses immediately after birth through genetic screening panels. This will enable personalized genetic counseling and recommendations for personalized treatment and rehabilitation.

GENETICS OF INFERTILITY Infertility is defined as the inability to conceive within 1 year of attempting to have a child. Infertility is very common nowadays and can affect 8-12% of couples. Infertility is caused by various factors, with 30-40% being male-related, 40-50% female-related, and 15% unexplained. Since there can be many reasons for infertility, patients’ detailed medical history, family history, physical examination, routine tests, and necessary department consultations should be conducted to identify these reasons. Chromosomal abnormalities are the most commonly detected causes of infertility in men. The rate of chromosomal anomaly detection in men with low sperm count (oligo/azoospermia) is around 20%. The most common chromosomal anomaly in infertile men is Klinefelter Syndrome, which is characterized by an extra X chromosome, but deficiencies, excesses, or changes in location can also be detected in other chromosomes. Chromosomal abnormalities related to sex chromosomes can also be detected in infertile women, especially. Chromosome analysis is performed for couples to reveal these abnormalities. As is known, humans are organisms that start from a single cell and multiply to trillions of cells. Differentiation into many cells with different functions from this single cell can occur with our genetic material (DNA). While DNA is generally scattered in cells, it is found together in dividing cells and is located in structures called chromosomes. In chromosome analysis tests, we expect to see a total of 46 chromosomes; 46,XY in male individuals and 46,XX in female individuals. Chromosome analysis test performed from peripheral blood is conducted with a blood sample taken from the arm and results are obtained within 2-3 weeks.

In addition to the tests and causes mentioned above, there are many genetic factors that can lead to infertility. Which genetic test can be performed should be evaluated in detail for each couple after detailed medical history, physical examination, and routine tests.

GENETIC TESTS IN RECURRENT PREGNANCY LOSSES Having a healthy child is among the desires of many couples; however, not all pregnancies detected progress until birth, and about 15% end in miscarriage. Routine genetic testing is not recommended for couples with a single miscarriage if there is no suspicion of a genetic disease in the mother’s medical history, family history, and pregnancy history. Recurrent pregnancy losses may be due to endocrine, autoimmune, and hematological diseases in the mother, various infections, anatomical reasons, and genetic factors. In a significant portion of recurrent pregnancy losses, the cause cannot be identified. Approximately 50% of losses in the first 3 months of pregnancy, 10% in the second 3 months, and 5% in the third 3 months are due to genetic reasons. As seen, genetic factors play a much more significant role in early pregnancy losses. Although tests can be performed on pregnancy material to detect genetic factors, it may not always be easy and practical to access the material. In this case, the genetic status of the parents that may also cause recurrence in subsequent pregnancies is investigated. Chromosomal translocation and inversion carrier status has been reported in 6% of parents with recurrent pregnancy loss, and these conditions are often difficult to detect early because they generally do not cause problems in the individual, and their detection in parents can cause recurrent pregnancy losses or serious genetic diseases in the child if born.

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