ONLINE RESULT
Diseases
Genetics is a branch of medicine that provides diagnosis and treatment of hereditary diseases and examines the effects of genetic structure and DNA changes on human health. The Genetics Department of Private Jimer Hospital offers comprehensive health services with its state-of-the-art laboratories and expert genetic doctors for the purpose of early diagnosis of genetic diseases, treatment planning and genetic counseling for families. Developments in genetic science allow us to better understand the causes of diseases and personalize the treatment process.
What Diseases Does the Genetics Department Deal With?
The genetics department deals with the diagnosis and treatment of many diseases of hereditary or genetic origin. In the diagnosis of these diseases, the genetic structure of the patient is evaluated using genetic tests. As will be discussed in detail below; Genetic diagnosis services are used in many medical fields such as determining follow-up and treatment options in cancer diseases, sorting out genetic diseased embryos that can be passed down from the family in in vitro fertilization treatments and may occur at the time of fertilization, screening possible diseases in the fetus in risky pregnancies, determining the causes in recurrent pregnancy losses and ensuring that subsequent pregnancies are healthy and safe, screening suspected genetic diseases after birth, and being able to foresee conditions such as heart diseases and cerebral palsy due to sudden clot formation.
The diseases that the genetics department deals with are as follows:
- **Cancer Genetics**: Some types of cancer can develop due to genetic predisposition. Genetic tests are used for early diagnosis of diseases such as breast cancer, ovarian cancer, prostate cancer, pancreatic cancer, thyroid cancer, colon cancer and prostate cancer in individuals with genetic predisposition. These tests are important in determining cancer risk and calculating the possibility of recurrence and metastasis, preventing transmission to other family members, and taking protective measures. In particular, genetic changes detected in tumor cells and smart drug options make a significant contribution to treatment.
- **Common Hereditary Diseases**: Hereditary diseases such as cystic fibrosis, thalassemia, hemophilia, and sickle cell anemia occur as a result of genetic mutations. Genetic tests are used in the diagnosis of these diseases and to determine whether the person is a carrier.
- **Genetic Syndromes**: Genetic syndromes such as Down syndrome, Turner syndrome, and Klinefelter syndrome occur as a result of changes in chromosomes. Genetic tests are of great importance in the diagnosis of these syndromes.
- **Metabolic Diseases**: Metabolic diseases such as phenylketonuria (PKU), Gaucher disease, and Tay-Sachs disease occur as a result of enzyme deficiency and are of genetic origin. Genetic tests are performed for the early diagnosis and treatment planning of these diseases.
- **Neurogenetic Diseases**: Neurogenetic diseases such as Huntington's disease, Duchenne muscular dystrophy and Charcot-Marie-Tooth disease are genetic disorders that affect the nervous system. These types of diseases are diagnosed with genetic tests and the treatment process is planned.
Diagnostic Methods Applied in the Department of Genetics
In the diagnosis of genetic diseases, various diagnostic methods are used to examine changes in the genetic structure of patients. The Genetics Department of Private Jimer Hospital offers accurate and rapid diagnostic services to our patients with its modern laboratory facilities:
-**Prenatal Diagnosis**: Karyotype analysis, single gene diseases, microdeletion / duplication syndrome screenings can be performed from materials obtained with amniocentesis, CVS, cordocentesis.
-**Noninvasive Prenatal Diagnosis**: Both structural and numerical chromosome anomaly screening of the baby can be performed with high reliability from the mother's blood.
- **Karyotype Analysis**: Karyotype analysis, which is performed to examine the structure and number of chromosomes, is used especially in the diagnosis of genetic syndromes. Chromosomal anomalies such as Down syndrome are detected with this method.
- **Molecular Genetic Tests**: Molecular genetic tests used to detect specific changes in the DNA sequence are preferred in the diagnosis of many genetic diseases. Genetic mutations are determined with the next generation sequencing (NGS) method.
- **Preimplantation Genetic Diagnosis (PGT)**: This test, which is performed to evaluate the genetic structure of embryos during in vitro fertilization treatment, allows the detection of hereditary diseases before embryo transfer. PGT helps ensure a healthy pregnancy process.
- **WES (Whole Exome Sequencing) Next Generation Sequencing (NGS)**: Approximately 23,000 genes in humans can be examined, and approximately 7,000 diseases can be screened. Thus, difficult clinical cases that cannot be diagnosed can be solved.
-**WGS (Whole Genome Sequencing)**: In addition to the WES test, the entire genome can be examined with the WGS method, and intron regions, repeat regions, deletions and duplications in genes can be analyzed.
Genetic Counseling and Support for Families
Genetic counseling is of great importance in the diagnosis and treatment of genetic diseases. Genetic counseling is a service provided to inform patients and families about the results of genetic tests and to guide them about possible risks. The Genetics Department of Private Jimer Hospital provides comprehensive counseling services to families at risk of genetic diseases, helping them take the necessary precautions to live a healthy life.
In the genetic counseling process, family history is evaluated in detail and patients are informed about possible risks and treatment options in light of the results of genetic tests. Genetic counseling is of great importance especially for couples planning to have children and individuals with a family history of genetic diseases.
Recommendations for Prevention of Genetic Diseases and Early Diagnosis
Although it is not always possible to prevent genetic diseases, it is possible to minimize the effects of the disease with early diagnosis and appropriate treatment. Here are some suggestions for protection from genetic diseases and early diagnosis:
- **Knowing Your Family History**: If there is a history of genetic diseases in the family, it is important to receive genetic counseling and have the necessary tests done. This helps to diagnose the disease early and to take the necessary precautions.
- **Preimplantation Genetic Diagnosis**: During in vitro fertilization treatment, preimplantation genetic diagnosis for couples at risk of hereditary diseases can help to ensure a healthy pregnancy process.
- **Healthy Lifestyle**: Genetic predisposition can increase the risk of some diseases. However, healthy lifestyle habits such as healthy nutrition, regular exercise and avoiding smoking and alcohol consumption can contribute to reducing this risk.
- **Regular Health Check-ups**: Regular health check-ups for individuals at risk of genetic diseases ensure that diseases are detected early and the treatment process is managed successfully.
Genetics Services at Private Jimer Hospital
Private Jimer Hospital Genetics Department provides comprehensive health services to our patients using the most up-to-date technology and methods in the diagnosis and treatment of genetic diseases. Our expert geneticists evaluate each patient's condition individually and create the most appropriate diagnosis and treatment plan.
Our aim is to increase the quality of life of our patients and contribute to their healthy lives with early diagnosis of genetic diseases and appropriate treatment methods. With modern technology and a multidisciplinary approach, we are with you for your genetic health.
What Diseases Does the Genetics Department Deal With?
The genetics department deals with the diagnosis and treatment of many diseases of hereditary or genetic origin. In the diagnosis of these diseases, the genetic structure of the patient is evaluated using genetic tests. As will be discussed in detail below; Genetic diagnosis services are used in many medical fields such as determining follow-up and treatment options in cancer diseases, sorting out genetic diseased embryos that can be passed down from the family in in vitro fertilization treatments and may occur at the time of fertilization, screening possible diseases in the fetus in risky pregnancies, determining the causes in recurrent pregnancy losses and ensuring that subsequent pregnancies are healthy and safe, screening suspected genetic diseases after birth, and being able to foresee conditions such as heart diseases and cerebral palsy due to sudden clot formation.
The diseases that the genetics department deals with are as follows:
- **Cancer Genetics**: Some types of cancer can develop due to genetic predisposition. Genetic tests are used for early diagnosis of diseases such as breast cancer, ovarian cancer, prostate cancer, pancreatic cancer, thyroid cancer, colon cancer and prostate cancer in individuals with genetic predisposition. These tests are important in determining cancer risk and calculating the possibility of recurrence and metastasis, preventing transmission to other family members, and taking protective measures. In particular, genetic changes detected in tumor cells and smart drug options make a significant contribution to treatment.
- **Common Hereditary Diseases**: Hereditary diseases such as cystic fibrosis, thalassemia, hemophilia, and sickle cell anemia occur as a result of genetic mutations. Genetic tests are used in the diagnosis of these diseases and to determine whether the person is a carrier.
- **Genetic Syndromes**: Genetic syndromes such as Down syndrome, Turner syndrome, and Klinefelter syndrome occur as a result of changes in chromosomes. Genetic tests are of great importance in the diagnosis of these syndromes.
- **Metabolic Diseases**: Metabolic diseases such as phenylketonuria (PKU), Gaucher disease, and Tay-Sachs disease occur as a result of enzyme deficiency and are of genetic origin. Genetic tests are performed for the early diagnosis and treatment planning of these diseases.
- **Neurogenetic Diseases**: Neurogenetic diseases such as Huntington's disease, Duchenne muscular dystrophy and Charcot-Marie-Tooth disease are genetic disorders that affect the nervous system. These types of diseases are diagnosed with genetic tests and the treatment process is planned.
Diagnostic Methods Applied in the Department of Genetics
In the diagnosis of genetic diseases, various diagnostic methods are used to examine changes in the genetic structure of patients. The Genetics Department of Private Jimer Hospital offers accurate and rapid diagnostic services to our patients with its modern laboratory facilities:
-**Prenatal Diagnosis**: Karyotype analysis, single gene diseases, microdeletion / duplication syndrome screenings can be performed from materials obtained with amniocentesis, CVS, cordocentesis.
-**Noninvasive Prenatal Diagnosis**: Both structural and numerical chromosome anomaly screening of the baby can be performed with high reliability from the mother's blood.
- **Karyotype Analysis**: Karyotype analysis, which is performed to examine the structure and number of chromosomes, is used especially in the diagnosis of genetic syndromes. Chromosomal anomalies such as Down syndrome are detected with this method.
- **Molecular Genetic Tests**: Molecular genetic tests used to detect specific changes in the DNA sequence are preferred in the diagnosis of many genetic diseases. Genetic mutations are determined with the next generation sequencing (NGS) method.
- **Preimplantation Genetic Diagnosis (PGT)**: This test, which is performed to evaluate the genetic structure of embryos during in vitro fertilization treatment, allows the detection of hereditary diseases before embryo transfer. PGT helps ensure a healthy pregnancy process.
- **WES (Whole Exome Sequencing) Next Generation Sequencing (NGS)**: Approximately 23,000 genes in humans can be examined, and approximately 7,000 diseases can be screened. Thus, difficult clinical cases that cannot be diagnosed can be solved.
-**WGS (Whole Genome Sequencing)**: In addition to the WES test, the entire genome can be examined with the WGS method, and intron regions, repeat regions, deletions and duplications in genes can be analyzed.
Genetic Counseling and Support for Families
Genetic counseling is of great importance in the diagnosis and treatment of genetic diseases. Genetic counseling is a service provided to inform patients and families about the results of genetic tests and to guide them about possible risks. The Genetics Department of Private Jimer Hospital provides comprehensive counseling services to families at risk of genetic diseases, helping them take the necessary precautions to live a healthy life.
In the genetic counseling process, family history is evaluated in detail and patients are informed about possible risks and treatment options in light of the results of genetic tests. Genetic counseling is of great importance especially for couples planning to have children and individuals with a family history of genetic diseases.
Recommendations for Prevention of Genetic Diseases and Early Diagnosis
Although it is not always possible to prevent genetic diseases, it is possible to minimize the effects of the disease with early diagnosis and appropriate treatment. Here are some suggestions for protection from genetic diseases and early diagnosis:
- **Knowing Your Family History**: If there is a history of genetic diseases in the family, it is important to receive genetic counseling and have the necessary tests done. This helps to diagnose the disease early and to take the necessary precautions.
- **Preimplantation Genetic Diagnosis**: During in vitro fertilization treatment, preimplantation genetic diagnosis for couples at risk of hereditary diseases can help to ensure a healthy pregnancy process.
- **Healthy Lifestyle**: Genetic predisposition can increase the risk of some diseases. However, healthy lifestyle habits such as healthy nutrition, regular exercise and avoiding smoking and alcohol consumption can contribute to reducing this risk.
- **Regular Health Check-ups**: Regular health check-ups for individuals at risk of genetic diseases ensure that diseases are detected early and the treatment process is managed successfully.
Genetics Services at Private Jimer Hospital
Private Jimer Hospital Genetics Department provides comprehensive health services to our patients using the most up-to-date technology and methods in the diagnosis and treatment of genetic diseases. Our expert geneticists evaluate each patient's condition individually and create the most appropriate diagnosis and treatment plan.
Our aim is to increase the quality of life of our patients and contribute to their healthy lives with early diagnosis of genetic diseases and appropriate treatment methods. With modern technology and a multidisciplinary approach, we are with you for your genetic health.
