Genetic Diseases Diagnostic Center

Our Center which gives genetic diagnostic services in the fields of CYTOGENETICS and MOLECULAR CYTOGENETICS has been carrying out its practices since 1997 and received its license in 2003 in accordance with the "Genetic Diseases Diagnostic Center Regulations" as published in Official Gazette numbered 23368 that came into force on 10th June 1998. Patient samples coming from other centers within or outside of Ankara will only be accepted for genetic analysis if they are shipped under appropriate conditions. Our activities can be grouped under 4 headings: Performing genetic tests for genetic diagnosis and follow-up Genetic consultation for genetic diseases and genetic tests Research Education OUR VISION To become a modern and respectful center which provides the best research and education and high quality patient services in the field of medical genetics. OUR MISSION To provide diagnostic and counseling services at the highest quality and standards To train and educate medical students who will become self-improving, knowledgeable and competent doctors of the future To carry out research which will contribute to science at the global level

Quality Internal Quality Control All patient samples are labeled immediately upon arrival to the diagnostic center and this is controlled by at least 2 people. All patient samples are analyzed by repeating the tests at least twice. At least 3 cultures are prepared for samples taken from amniotic fluid, chorionic villus and cord blood. Some DNA samples are tested by at least two different methods. The results obtained from patient samples are constantly controlled by specialists in our center to verify that they match the clinical diagnosis. External Quality Control Our Center is a Genetic Diseases Diagnostic Center with an approved licence for cytogenetic and molecular genetics diagnostics delivered by Turkish Republic Ministry of Health. Our center is a member of the National Molecular Genetics Quality Assessment (UMGEKA) and the National Cytogenetics Quality Assessment (UMSEKA) systems. Test applications and results are practiced in accordance with the European Cytogeneticists Association standards. European Cytogeneticists Association (http://www.e-c-a.eu/EN/default.asp) Our laboratory is a member of the EUropean Treatment Outcome Study (EUTOS) external quality network for the analysis of BCR/ABL fusion transcript. Our laboratory has an international validation for K-RAS Test

Genetic Diagnostic Methods Tissue Culture And Chromosome Analysis Human somatic cells have 46 chromosomes consisting of 23 pairs. The 22 pairs, which are termed as autosomes, are the same between males and females. The remaining one pair constitutes the sex chromosomes (gonosomes) and is generally found as XX in females and XY in males. Chromosomes are the structures which contain the genetic code (genes) in the nucleus of cells. Chromosomes are isolated when viable, dividing nucleated cells are inhibited at the mitotic stage after cells proliferate in appropriate culture conditions. The karyotype analysis can be reported once isolated chromosomes are stained and investigated for alterations in numerical and structural characteristics. The structural and numerical aberrations in chromosomes are associated with several syndromes and diseases and in particular observed in individuals who cannot menstruate, conceive a baby, experience repetitive spontaneous abortions or have physical examination reports of chromosome abnormalities such as Down syndrome and in patients diagnosed with leukemia. The gain or loss of a whole chromosome or its segment can result in unbalanced numerical chromosomal anomalies including mental retardation, anomalous baby births, spontaneous abortion and fertility problems. On the contrary, individuals with structural chromosomal anomalies such as translocation or inversion may not experience health problems or differences in learning ability due to the absence of genetic loss and therefore known as carriers. However, the chromosomes transmitted to the babies of carrier individuals may have unbalanced genetic information which could result in anomalous births or spontaneous abortion. Therefore, it is important for these individuals to obtain genetic diagnosis by cytogenetic methods which support the analysis of all chromosomes or by molecular cytogenetics (FISH etc) to analyze specific chromosomal segments. Chromosome analysis is required following genetic counseling for patients who are at risk of having a genetic disorder or in the case of a known familial genetic disease. The peripheral blood, bone marrow, skin biopsy or abortion material represent various tissue samples to be used for the isolation of chromosomes.