Clinical Genetics
Genetic counseling includes providing information to the family of individuals who have or are at risk of a genetic problem or congenital anomaly, planning the tests to be performed, determining/preventing the risk in the next generations, monitoring the problem and psychological support. If any genetic test has been performed, interpreting the test results and determining the risk of occurrence in other family members are also within the scope of genetic counseling.
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Cytogenetics
DNA Laboratuvarları The Cytogenetics Laboratory of the Genetic Diseases Evaluation Center is a leader in its field. Laboratory managers and genetic experts work closely with laboratory personnel to ensure accurate and reliable results are obtained in a timely manner. Cytogenetics studies the number and morphology of chromosomes. Chromosomes carry the genetic material of an organism. There are 23 pairs of chromosomes in human cells. These chromosomes carry all the genetic information for the proper functioning of each cell.
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Molecular Cytogenetics
It is very difficult to evaluate regions of chromosomes smaller than a certain size with karyotype analysis. Changes below 5-10 megabases (1 million bases) cannot be detected by conventional cytogenetic methods (Figure 1). Therefore, in cases that require analysis above a certain resolution (for example, in the diagnosis of microdeletions), FISH (fluorescent in situ hybridization) or array CGH (comparative genomic hybridization) methods are preferred. Array CGH is currently preferred for diagnostic purposes because it is a DNA-based method that can examine all chromosomal regions simultaneously.
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Molecular Genetics
DNA LaboratuvarlarıCenter for Genetic Disease Evaluation, certified molecular laboratory managers; They are leaders in the field of genetic testing who strive to develop new testing methods that constantly improve test quality. The laboratory team, in collaboration with bioinformatics experts and geneticists, is constantly working to improve tests by increasing mutation detection rates and reducing turnaround time.
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Bioinformatics
DNA Laboratuvarları Raw data obtained from MGI DNBSEQ G400, Illumina NextSeq500 and Illumina MiSeq devices located in the Genetic Diseases Evaluation Center are designed by our Bioinformatics Experts in line with current standards and converted into meaningful data with our "in-house pipelines" specific to the studies.
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Scientific Projects
In our laboratory, service is provided with Roche Cobas Z 480 CE IVD devices. Works included within our services;
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