When the causes of disability are investigated, it is seen that most of them are preventable causes such as genetic factors, consanguineous marriage, problems during pregnancy, and can be prevented with preventive-preventive practices. TÜBİTAK MAM contributes to the diagnosis of genetic diseases that cause various physical and mental anomalies from the embryonic period by putting the latest DNA sequencing technology into service in the field of genetic diagnosis with its testing services.
In this context, TÜBİTAK MAM has been conducting research projects and establishing collaborations to meet the relevant testing services of universities and hospitals since 2012. With the "Illumina Hiseq 2500 Next Generation Sequencing System" at the Genome Research Center (GENAM) of the TÜBİTAK MAM Institute of Gene Engineering and Biotechnology, studies are carried out to detect genetic diseases. Prof. Dr. İbrahim Kılıçaslan, President of TÜBİTAK MAM, stated that the exome sequencing service they perform with their infrastructure can be used especially in the diagnosis of rare diseases of unknown cause, as well as serving to prevent possible disabled births with the tests to be performed on the family. In families whose children are born with disabilities, genetic disorders that cause the disease can be detected through mother-father-child analyzes, and other disabled births can be prevented.
In addition, the Non-invasive Prenatal Diagnosis (NIPT) Test based on Next Generation DNA Sequencing (YND) technology for the Diagnosis of Chromosomal Aneuploidy of DNA circulating freely in the blood of pregnant women is among the sequencing services that can be provided domestically at TÜBİTAK MAM. With this test method, only a small amount of blood is taken from the arm to detect the excess number of 13, 18, 21 and X chromosomes in the embryo. The NIPT test service includes the sequencing of fetal extracellular free DNA fragments (cfDNA) to be isolated from serum/plasma samples obtained from whole blood and bioinformatic analysis of the sequence data obtained.
