Genetic Disorders Diagnosis Center

Modern medicine has the ability to identify individuals' health history, genetic predispositions and future health risks in advance with the opportunities offered by genetic science. The Genetic Diseases Diagnosis and Evaluation Center serves as a center equipped with the most up-to-date technologies in the diagnosis, follow-up and prevention of genetic-based diseases. Our goal is to guide individuals to take the necessary steps to lead a healthy life by analyzing their genetic structure.

What are Genetic Diseases?

Genetic diseases are a group of disorders that occur due to changes or mutations in the genetic structure of an individual. These diseases may be related to inherited or acquired genetic mutations. Early diagnosis is of great importance in the diagnosis and evaluation of genetic diseases.

• Inherited Diseases: Occur as a result of genetic mutations that run in families (e.g. thalassemia, cystic fibrosis, sickle cell anemia).
• Multifactorial Diseases: Caused by the interaction of both genetic and environmental factors (e.g. diabetes, hypertension, obesity).
• Chromosome Disorders: Abnormalities in the number or structure of chromosomes (e.g. Down syndrome, Turner syndrome).

In Which Cases Should a Genetic Examination Be Performed?

The diagnosis and evaluation of genetic diseases is necessary in many different situations:

• Family History: Family history of genetic diseases.
• Recurrent Pregnancy Losses: It may be necessary to examine the genetic structure of the mother and father.
• Developmental Delays in Children: Delay in mental or physical development.
• Congenital Anomalies: Structural or genetic anomalies recognized at birth.
• Cancer Predisposition: Family history of cancer at a young age or risk of genetic cancer syndromes.
• Carrier Tests: When you want to find out if you are a carrier for inherited diseases.
• Before Marriage: For screening in consanguineous marriages or couples with genetic risk.

Services Offered in Our Center

As the Genetic Diseases Diagnosis and Evaluation Center, we provide a wide range of services that provide detailed information about the genetic structure of individuals:

• Molecular Genetic Tests: Genetic mutations are detected by analyzing DNA and RNA.
• Chromosome Analysis (Karyotype Test): Used to diagnose chromosome disorders.
• Genetic Counseling: Individuals and families are informed and guided about genetic risks.
• Prenatal Genetic Diagnosis: The genetic health status of the baby is evaluated during pregnancy.
• Carrier Screening Tests: The risk of genetic disease carriage of prospective parents is analyzed.
• Cancer Genetics Tests: Evaluation of genetic predisposition or familial cancer syndromes.
• Pharmacogenetic Tests: Evaluation of the effects of drugs on the individual on a genetic basis.

How Does the Genetic Testing Process Work?

The genetic testing process involves several steps:

1. Counseling and Evaluation: In the first stage, the individual's family history and health status are examined in detail.
2. Sample Collection: Samples are taken from blood, saliva or other biological materials.
3. Laboratory Analysis: Genetic analyses are performed in our laboratories with advanced technology.
4. Interpretation of Results: Our experts evaluate the test results and provide explanatory information to individuals.
5. Follow-up and Treatment: Risks are managed and preventive measures are planned.

Our Center Equipped with Modern Technologies

Our center provides services using the innovations of genetic science:

• NGS (Next Generation Sequencing): Enables genetic analysis with high precision.
• Microarray Analysis: Used to detect genetic changes at the chromosome level.
• Pharmacogenetic Applications: Enables the creation of personalized drug treatment plans.
• Whole Genome and Exome Analysis: A detailed examination of the underlying causes of genetic diseases.

Shape Your Future with Genetics

Genetic structure is an important component that shapes the future of your health. As Biruni University Hospital Genetic Diseases Diagnosis and Evaluation Center, we are at your side to improve your quality of life and manage your genetic risks.

You can contact us to make an appointment and get detailed information. Shape your health with confidence!