The Istanbul Medipol University Genetic Diseases Evaluation Center is a unit where the diagnosis, screening, and counseling processes for hereditary diseases are carried out with a multidisciplinary approach. Comprehensive evaluations are offered to a wide range of patients, from individuals with a family history of genetic diseases to couples planning pregnancy; from patients experiencing developmental problems in childhood to individuals suspected of having rare diseases.
What Services Are Offered At The Istanbul Medipol University Genetic Diseases Assessment Center?
The services provided at the Genetic Diseases Assessment Center include the diagnosis of genetic diseases, the identification of risks, and the evaluation of the obtained data by experts. These services enable the early detection of diseases and the creation of personalized treatment plans.
The Genetic Diseases Evaluation Center at Istanbul Medipol University provides services in the fields of bioinformatics, genetic counseling, molecular genetics, molecular karyotyping, molecular cytogenetics, and cytogenetics.
Bioinformatics
Bioinformatics enables the computer-aided analysis of DNA data obtained from genetic tests. This service allows for the rapid and accurate detection of genetic alterations and reveals findings that may be associated with disease.
Genetic Counseling
Genetic counseling involves providing individuals and families with information about hereditary diseases and assessing the risks. This process includes guidance on the likelihood of the disease, the risk of recurrence, and necessary testing.
Molecular Genetics
Molecular genetics encompasses tests that allow for the examination of diseases at the DNA level. This service helps determine the causes of genetic diseases and makes the diagnostic process clearer.
Molecular Karyotyping
Molecular karyotyping allows for the detailed examination of small changes in chromosomes. It is particularly used in investigating the causes of developmental problems and congenital anomalies.
Molecular Cytogenetics
Molecular cytogenetics involves analyzing specific regions of chromosomes using specialized methods. This method allows for rapid results and is effective in detecting certain genetic diseases.
Cytogenetics
Cytogenetics is a fundamental genetic analysis method that examines the number and structure of chromosomes. This service can identify congenital or acquired chromosomal abnormalities.
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What Diseases Are Treated At The Istanbul Medipol University Genetic Diseases Evaluation Center?
Istanbul Medipol University Genetic Diseases Evaluation Center has a wide range of services covering the diagnosis and evaluation processes of genetically based diseases. Many different disease groups are investigated at this center using genetic tests and analyses. These diseases include:
- Chromosomal Disorders: These involve detecting abnormalities in chromosome number or structure, such as Down syndrome and Turner syndrome.
- Rare (Hereditary) Genetic Diseases: The causes of rare diseases that are congenital and genetically transmitted are investigated.
- Developmental Delay And Autism Spectrum Disorders: Genetic factors associated with developmental delay, learning disabilities, and autism in children are examined.
- Muscle And Nervous System Diseases: Muscle diseases (e.g., DMD) and hereditary diseases related to the nervous system are analyzed.
- Epilepsy And Neurological Diseases: The genetic basis of epilepsy and some neurological diseases, whose causes are not clear, is investigated.
- Metabolic Diseases: Genetic disorders in the body's process of processing nutrients are evaluated.
- Hereditary Cancer Syndromes: Genetic predisposition (e.g., BRCA genes) is investigated in individuals with a family history of cancer.
- Cardiogenetics (Hereditary Heart Diseases): This field examines the genetic causes of heart rhythm disorders and certain heart diseases.
- Single-Gene Diseases: Diseases caused by a single gene mutation, such as SMA, cystic fibrosis (CFTR), and familial Mediterranean fever (FMF), are analyzed.
- Prenatal Genetic Diseases: Genetic diseases and anomalies that may occur in the baby during pregnancy are investigated.
- Recurrent Miscarriages And Reproductive Problems: Miscarriages and infertility cases due to genetic causes are evaluated.
- Birth Anomalies (Congenital Diseases): D The genetic causes of structural or functional abnormalities observed from birth are investigated.
What Genetic Tests Are Performed At The Istanbul Medipol University Genetic Diseases Evaluation Center?
Genetic tests performed at Istanbul Medipol University's Genetic Diseases Evaluation Center consist of analyses aimed at revealing the genetic causes of diseases, identifying hereditary risks, and reaching an accurate diagnosis. These tests are selected based on the individual's complaints and family history and are planned specifically for each patient.
Genetic tests are essentially performed in several different ways. If a specific disease is suspected, a single gene associated with that disease can be examined. In more comprehensive cases, gene panels are used, which evaluate multiple genes simultaneously. When a broader examination is needed, advanced tests that analyze a large portion of all genes can be performed.
In addition to genes, chromosomes can also be examined. Changes in the number and structure of chromosomes are detected with special tests. Some tests focus on a specific gene or chromosome region and provide rapid results.
The genetic tests performed at the center cover a very wide range. Many different analyses can be conducted, from single-gene tests to multi-gene panels, chromosome analyses to advanced molecular tests. Since it is not possible to list all tests individually, you can access a detailed and up-to-date list of tests via the following link:
Istanbul Medipol University Genetic Diseases Evaluation Center Test List
Advantages Of Istanbul Medipol University Genetic Diseases Assessment Center
The Istanbul Medipol University Genetic Diseases Evaluation Center offers numerous advantages with its advanced technology laboratory infrastructure, extensive testing capacity, and expert team structure. These advantages include:
- It has a state-of-the-art laboratory infrastructure. Thanks to up-to-date equipment and modern techniques, genetic tests are performed with high accuracy and reliability.
- With a wide range of genetic testing options, it offers comprehensive evaluation opportunities for different disease groups.
- Test results are reported quickly and reliably thanks to the efficient operational structure.
- The evaluation is carried out by an expert and multidisciplinary team.
- It serves a wide range of patient groups, including rare diseases.
- It focuses on quality and accreditation. It provides reliable laboratory services with quality processes that comply with international standards.
- It aims to be a point of reference at national and international levels.
- It prioritizes ethics, patient privacy, and data security.
- The center contributes to academic output through published articles and scientific studies in the field of genetics.
- It actively participates in both national and international platforms through written papers and scientific presentations.