Medical Genetics

The Medical Genetics Department Genetic Diseases Diagnosis Center serves at the İSTEK Foundation Koşuyolu Campus. At the center, in addition to outpatient clinic (genetic examination) and genetic counseling services, cytogenetic, molecular-cytogenetic, and molecular genetic tests are performed by an experienced and academic team in laboratories equipped with internationally standardized devices. The Genetic Diseases Diagnosis Center is the first university laboratory to hold the TÜRKAK ISO 15189 Medical Laboratories Accreditation Certificate.

What Is Medical Genetics?

Medical genetics is a field concerned with the diagnosis of hereditary or non-hereditary diseases that occur as a result of disorders in genes. In this context, clinical and laboratory practices are carried out in order to determine the risks of individuals, their relatives, and their future children in terms of genetic diseases and to detect carrier status for these risks.

In Which Situations and How Is Genetic Diagnosis Performed?

Examinations for genetic diagnosis are carried out using various methods in line with different life periods and clinical situations. In this context, genetic diagnosis practices are addressed under the following headings:

Genetic Diagnosis in the Prenatal Period

In the prenatal period;

1. Increased risk of chromosomal anomaly in pregnancy screening tests,
2. Advanced maternal age,
3. In cases of known carrier status for a genetic disease (chromosomal or single-gene disease), examinations for genetic diagnosis are performed.

In this context;

• Rapid detection of common chromosomal anomalies such as Down Syndrome (Trisomy 21) by FISH (fluorescence in-situ hybridization) method in amniocentesis samples, karyotype analysis after long-term cell culture, and DNA analyses,
• Rapid detection of chromosomal anomalies by direct preparation in chorionic villus biopsy samples, karyotype analysis after long-term cell culture, and DNA analyses,
• Karyotype analysis and DNA analyses are performed in fetal blood samples.

Genetic Diagnosis in the Postnatal Period

In the postnatal period;

1. In cases such as congenital anomalies, growth and developmental and intellectual disabilities, short stature, and global developmental delay that may be encountered in childhood and in which a genetic disease is suspected,
2. In determining genetic causes in couples with recurrent miscarriages or who are infertile (unable to have children),
3. In the diagnosis and determination of carrier status in single-gene diseases that may be frequently seen due to consanguineous marriage,
4. Genetic examinations are performed in cases of hereditary neurological and muscle diseases that may appear in adulthood and in cases where a predisposition to thrombosis is suspected.

In this context;

• Karyotype analysis in peripheral blood,
• FISH for microdeletion syndromes in which losses in genes are detected,
• Molecular karyotyping (Array CGH), which allows all chromosomes to be examined in more detail and more than 200 genetic diseases to be examined at the same time,
• DNA analyses are performed for single-gene diseases.

Genetic Diagnosis in Oncology and Hematology Patients

In oncology and hematology patients, evaluated as markers in determining the clinical course and response to drugs that can be used in chemotherapy;

• Specific FISH and DNA analyses in paraffin-embedded tumor tissue sections,
• Karyotype analysis, FISH, and DNA analyses are performed in bone marrow samples.

How Is Genetic Counseling Service Provided?

Detailed information about the results, risk analyses for other individuals in the family and future generations, and planning of preventive methods for these risks are provided to families diagnosed at the center or referred from external centers, within the scope of genetic counseling service by an experienced specialist.
As the Medical Genetics Department, we closely follow genetic studies, which are developing rapidly today. Thanks to our research opportunities within the university and our cooperation with other branches in the medical faculty (such as Pediatrics, Obstetrics and Gynecology, Internal Medicine, Neurology, Neurosurgery, and Pathology), the Genetic Diseases Diagnosis Center is able to increase the diversity of routine diagnostic applications.