Medical Genetics

Medical Genetics is the branch of medicine that deals with the diagnosis, treatment and follow-up of hereditary diseases, offering personalised health solutions.

Medical genetics is the branch of medicine that studies the causes of genetic diseases, their diagnostic methods and their patterns of inheritance. In our Medical Genetics Department, the genetic history of the individual and their family is evaluated in detail; diagnosis, counselling and, where necessary, advanced genetic testing are used to create a personalised health plan. In this way, both existing diseases can be managed and preventive health measures can be taken for future generations.

What Is Medical Genetics?

Medical genetics is the branch of medicine that studies the causes of hereditary diseases, how they develop, their diagnostic methods and their patterns of inheritance. With the fundamental aim of understanding, identifying and treating genetic disorders, this unit also helps determine the potential genetic disease risks of individuals and their families.

Congenital syndromes, metabolic diseases, neurological disorders, types of cancer and many systemic diseases are examined within the scope of medical genetics. Genetic counselling, prenatal diagnosis, newborn screening, molecular genetic tests and cytogenetic analyses are also among the main services provided by this unit.

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What Does the Medical Genetics Department Deal With?

The Medical Genetics Department carries out the diagnosis, follow-up and treatment of diseases of genetic origin. Genetic syndromes and cancers, metabolic diseases and carrier states fall within the scope of this department.

Genetic counselling is also provided on matters such as pre-pregnancy risk assessment, health planning following consanguineous marriage, and recurrent pregnancy loss. The entire process, from planning genetic tests to interpreting their results, is managed by this unit.

The main conditions addressed by the Medical Genetics Department are as follows:

Congenital anomalies (hand and foot malformations, facial and organ development disorders, etc.)
Intellectual disability, developmental delay and speech disorders
Chromosomal disorders (Down syndrome, Turner syndrome, Klinefelter syndrome, etc.)
Single-gene disorders (cystic fibrosis, sickle cell anaemia, thalassaemia, SMA, etc.)
Familial cancer predispositions (BRCA mutations, Lynch syndrome, etc.)
Neurogenetic diseases (epilepsy, Huntington's disease, certain muscle diseases)
Genetic evaluation of the causes of recurrent miscarriage and infertility
Prenatal diagnosis and carrier testing
Pharmacogenetic analyses (determining individual response to medication)

What Is the Aim of Medical Genetics?

The main aim of medical genetics is to diagnose genetic diseases early, to treat them, and to develop preventive approaches by anticipating potential health problems. Within this scope, the genetic health risks of both the individual and their family are identified and a personalised treatment plan is prepared.

Medical genetics does not deal only with existing diseases; it also assesses the potential risks a person may pass on to their children and provides counselling before or during pregnancy accordingly. Through genetic counselling services and advanced genetic analyses, individuals are guided towards early diagnosis, effective treatment and improved quality of life.

Which Tests Are Performed in the Medical Genetics Department?

Many advanced genetic tests are performed in the Medical Genetics Department. These tests are highly important for identifying the health risks of the individual or their family, diagnosing their diseases and creating a personalised treatment plan. The most frequently preferred tests are as follows:

Karyotype Analysis (Chromosome Analysis): Identifies abnormalities in chromosome number and structure (Down syndrome, etc.).
Molecular Genetic Tests (DNA Analyses): Identify single-gene disorders (SMA, cystic fibrosis, etc.) and hereditary cancer risks.
Non-Invasive Prenatal Testing (NIPT): During pregnancy, the risk of chromosomal disorders is assessed by examining the baby's DNA in the mother's blood.
Preimplantation Genetic Testing (PGT): During IVF treatment, embryos are analysed to determine whether they carry a genetic disease.
Exome and Genome Analyses: Rare and complex diseases are diagnosed through detailed screening of all protein-coding regions (exome) or of the entire genetic material (genome).
Cancer Genetics Tests: Reveal the genetic changes that create a predisposition to certain types of cancer.
Metabolic Tests: Analyse the genetic causes of metabolic diseases that need to be detected particularly during infancy.
Carrier Tests: Performed to determine the hereditary diseases that prospective parents carry.
Pharmacogenetic Tests: Help plan the most suitable drug treatment by analysing a person's response to medication based on their genetic make-up.

Why Is the Medical Genetics Unit Important?

The Medical Genetics Unit plays a major role in the diagnosis and treatment of genetic diseases in individuals and families. Its fundamental aim is to identify the genetic factors that create a disease risk and to develop personalised health strategies.

Genetic tests identify the hereditary causes underlying diseases. This makes a patient-specific diagnosis possible and allows an appropriate treatment process to begin.

It enables early intervention and a preventive approach in individuals who do not yet show symptoms.

Work is carried out to improve the quality of life of individuals who have been diagnosed.

Thanks to the genetic counselling service provided, both the existing disease can be managed and potential risks can be reduced.

It is also highly important for public health. Research is conducted to better understand genetic diseases, develop new diagnostic methods and increase treatment options.

Why Are Carrier Tests Performed for Genetic Diseases?

"Genetic carriership is a common condition in the population. Any individual may unknowingly be a carrier of a serious hereditary disease. For example, carrier rates are quite high across the population for diseases such as phenylketonuria, cystic fibrosis, SMA (Spinal Muscular Atrophy) and Mediterranean anaemia (thalassaemia). From this perspective, a person may be a carrier of a disease even if they appear healthy, and the disease may then appear in their baby.

The carrier tests performed in the Medical Genetics Department determine whether couples are carriers. These tests can be carried out before marriage, during pregnancy planning or during pregnancy. The aim is both to protect the baby's health and to provide families with informed, preventive healthcare."

Frequently Asked Questions About Medical Genetics

What Happens If a Genetic Test Is Positive?

A positive genetic test means that a predisposition to, or carriership of, the disease tested for has been found.

How Long Do Medical Genetic Test Results Take?

The time taken for results may vary depending on the type of test. While the results of some simple tests may be available within 1-2 weeks, the results of more comprehensive genetic tests may take between 2 and 6 weeks. This period may be even longer for advanced analyses (such as exome-genome testing).

Which Genetic Diseases Have No Cure?

Some genetic diseases, such as SMA Type 1, Huntington's disease, Duchenne muscular dystrophy and fragile X syndrome, do not yet have a definitive cure. Here the aim is to reduce symptoms and improve the patient's quality of life.

Does Social Security (SGK) Cover Genetic Testing?

Some medical genetic tests are covered by SGK. However, which tests are covered may vary depending on the patient's diagnosis and condition. For detailed information, you can contact Medipol Health Group.

Who Are Medical Genetic Tests Performed On?

Genetic testing can be performed on individuals suspected of having a genetic disease, those with a family history of hereditary disease, couples experiencing recurrent pregnancy loss, babies with congenital anomalies and people with certain types of cancer.