Medical Genetics

Medical Genetics and Genetic Disease Diagnosis Center

In our Genetic Disease Diagnosis Center, genetic tests are performed for the diagnosis, follow-up and treatment of many diseases, and new tests are added in parallel with the developments in medicine. The Medical Genetics Department both communicates directly with patients and ensures that genetic tests appropriate for the disease are performed through the Genetic Disease Diagnosis Center. The compatibility of the disease with the test results is evaluated and the results are communicated to the patient clearly and concisely. The area of use of genetic tests has spread to almost every field of medicine, especially oncological and hematological diseases. The Department of Medical Genetics contributes to the diagnosis and treatment of diseases by participating in joint studies with many branches in this sense.

Cancer Genetics

Cancer genetics studies are conducted on individuals who have certain types of cancer themselves, their first-degree relatives, or their families. Breast, ovarian, colon, pancreas, uterus, stomach, some prostate, and thyroid cancers are among the most common types. Conditions that are associated with a high genetic risk for cancer predisposition syndromes include:

1. The cancer has certain characteristics (e.g., triple-negative breast cancer, metastatic prostate cancer).
2. Young
3. Multiple or bilateral cancers (e.g. bilateral breast or kidney cancer).
4. A history of related cancers in the same branch of the family (e.g. breast/ovarian, colon/uterine).

Genetic tests are important in determining genetic predisposition to cancer, offering appropriate screening programs to individuals, creating opportunities for early diagnosis, and bringing treatment options such as preventive surgery to the agenda.

Genetics of Muscle Diseases

Muscle diseases (myopathies) are diseases that can be seen in almost every age group and are a part of daily life. It is among the diseases that are highly restrictive and progressive. Genetic factors play a major role in the emergence of these diseases. Although it is mostly seen in individuals with a family history of muscle disease, these diseases can also occur by skipping several generations. Although there is no definitive treatment for the disease, the patient's muscle strength can be increased with physiotherapy and rehabilitation. Muscle diseases can be congenital or can occur during childhood, adolescence or old age. These disorders are caused by disorders in the structure and functioning of muscle cells and are also called neuromuscular diseases.

Hearing Loss Genetics

Deafness is a condition known as the most common sensory deficit, affecting more than 250 million people worldwide. Genetic factors are effective in at least half of childhood deafness cases. Genetic hearing losses are classified as syndromic (deafness is accompanied by additional symptoms) and non-syndromic (only hearing loss is present). Identifying genetic causes is important in terms of disease prognosis and treatment planning. Genetic tests can shed light on the genes that cause hearing loss and the abnormalities in the functioning of these genes.

Thanks to developing genetic screening panels, in the future, babies born deaf at birth will be able to be diagnosed early and personalized genetic counseling and treatment plans will be possible.

Infertility Genetics

Infertility is the inability to get pregnant despite unprotected sexual intercourse for one year. Infertility, which is a very common condition today, can affect 8-12% of couples. The causes of infertility are generally distributed as follows: 30-40% male-related, 40-50% female-related and 15% unexplained causes. In order to determine the causes of infertility, detailed history and family history of the patients should be questioned, physical examination, routine tests and necessary department consultations should be performed.

Chromosomal anomalies have an important place among the causes of infertility in men. Chromosomal anomalies related to problems such as low sperm count (oligo/azoospermia) are detected in approximately 20% of men who apply to the hospital due to infertility. The most common anomaly is Klinefelter Syndrome, which is characterized by an extra X chromosome. In addition, deficiencies, excesses or displacements in other chromosomes can also be detected.

In women, anomalies related to sex chromosomes in particular can cause infertility. In order to detect these conditions, chromosome analysis is performed on couples. There are 46 chromosomes in the human genome and these numbers are expected to be 46.XY in males and 46.XX in females. The chromosome analysis test is performed with samples taken from peripheral blood and the results can be obtained within 2-3 weeks.

One of the important causes of male infertility is microdeletions in the Y chromosome. This condition is associated with regions missing on the Y chromosome and is particularly detected in men with low sperm count (oligo/azoospermia). Y chromosome microdeletion test is performed with a blood sample taken from the arm and results are given within 2-3 weeks.

In addition, the presence of CFTR gene mutations is also investigated in couples with various anomalies detected on ultrasound. CFTR gene analysis is a test that detects changes in the gene region in DNA and is performed with a blood sample taken from the arm and gives results in 3-4 weeks.

One of the genetic causes that can lead to infertility in women is the CGG nucleotide repeat in the FMR1 gene. In the event of a repeat between 50-200 in this gene region, the probability of early ovarian failure is 15-20%. The FMR1 gene CGG repeat count test is performed with a blood sample taken from the arm and is reported within 3-4 weeks.

There are many genetic factors that can lead to infertility. Therefore, which tests to perform should be decided on a couple-by-couple basis after a detailed history, physical examination, and routine tests.

Genetic Tests in Recurrent Pregnancy Loss

Having a healthy child is the dream of many couples. However, approximately 15% of pregnancies end in miscarriage. If a genetic disease is not suspected in the prospective mother's medical history, family history and pregnancy history, genetic testing is not recommended in couples who have had a single miscarriage. Causes of recurrent pregnancy loss include endocrine, autoimmune and hematological diseases, infections, anatomical causes and genetic factors.

50% of losses that occur in the first three months of pregnancy are due to genetic causes. This rate drops to 10% in the second three months and 5% in the third three months. Genetic factors play a much greater role in early pregnancy losses.

About 6% of parents are found to be carriers of chromosomal translocations or inversions. These conditions do not cause any problems in individuals, but they can lead to pregnancy losses or genetic diseases. In order to detect these conditions, chromosome analysis is performed on prospective mothers and fathers. These analyses are performed with samples taken from peripheral blood and the results are obtained within 2-3 weeks.

In pregnancy losses, the mother's thrombophilia risk should also be evaluated. Thrombophilia tests that include Factor 5 Leiden and Factor 2 G20210A gene changes are performed to determine the tendency for clotting in expectant mothers in cases of recurrent pregnancy loss.

Genetic Tests in SMA (Spinal Muscular Atrophy) Disease

SMA is a genetic disease that causes weakness and atrophy in the muscles due to progressive degeneration of nerve cells. SMA is an autosomal recessive disease seen in 1 in 6,000-10,000 births, and this rate is higher in our country due to the prevalence of consanguineous marriages. SMA disease is caused