Within the Medical Genetics Department, clinical and laboratory applications for the diagnosis of hereditary or non-hereditary diseases caused by disorders in genes, determining the risks of individuals, relatives, and children to be born in terms of such diseases and determining the carrier for these risks pursue at the Diagnostic Center for Genetic Diseases, ISTEK (Istanbul Education and Culture Foundation) Koşuyolu campus.
In addition to polyclinic (genetic examination) and genetic counseling services, cytogenetic, molecular-cytogenetic, and molecular genetic tests are carried out in laboratories with international standards. Our Genetic Diagnosis Center is the first university laboratory with an ISO 15189 Medical Laboratories Accreditation certificate.
Genetic diagnosis in our Center;
In the prenatal period,
- increased risk of a chromosomal anomaly in screening tests during pregnancy,
- older maternal age,
- in cases of carriage of a known genetic disease (chromosome or single gene disease);
- Rapid detection of common chromosomal abnormalities such as Down Syndrome (Trisomy 21) with the FISH (fluorescent in-situ hybridization) method in amniocentesis samples, karyotype analysis after long-term cell culture and DNA analyses,
- Rapid detection of chromosome anomalies by direct preparation in chorionic villus biopsy sample, karyotype analysis after long-term cell culture and DNA analysis,
- Karyotype analysis and DNA analyses in the fetal blood sample
In the postnatal period;
- In cases such as congenital anomalies, growth-development and mental retardation, short stature, and widespread developmental retardation that may be encountered in childhood and where the genetic disease is suspected,
- Determination of genetic causes in couples with recurrent miscarriages or infertile (unable to have children)
- In the diagnosis and carrier determination of single gene diseases that are common due to consanguineous marriage
- In cases where hereditary neurological, muscle disease and susceptibility to thrombosis, which may occur in adults, are suspected
- Karyotype analysis in peripheral blood,
- FISH for microdeletion syndromes where losses in genes are identified
- Molecular karyotyping - array CGH- DNA analysis for single gene diseases, which enables more than 200 genetic diseases to be examined simultaneously, where all chromosomes can be examined in more detail
Clinical prognosis in oncology and hematology patients is determined with the following that is evaluated as a marker in determining the response to drugs that can be used in chemotherapy
- Specific FISH and DNA analysis of paraffined tumor tissue sections
- Karyotype analysis, FISH, and DNA analysis in bone marrow samples
Detailed information about the results, risk analysis of other individuals in the family and subsequent generations, and planning of preventive methods for these risks are offered as a genetic counseling service by our experienced specialist to families diagnosed in our center or referred from external centers.
Today, we are closely following the rapidly developing genetic studies at the Department of Medical Genetics. Thanks to our research opportunities within the university and our cooperation with other branches (such as Pediatrics, Obstetrics and Gynecology, Internal Medicine, Neurology, Neurosurgery, and Pathology) in the medical faculty, we can increase the variety of routine diagnostic practices of the Genetic Diseases Diagnostic Center.