After the developments in genetics in the last years many genetic diseases especially in the progress of modern reproductive medicine, prenatal and pre implantation periods can be diagnosed. Genetic diseases occur because of the permanent changes on genetic structure. The diagnosis of genetic diseases has a risk of conveying the future generation. It is important to put into practice necessary strategies to develop the methods of curing diseases. All genetic tests developed by our international scientific team are listed below in PDF file.
For this reasons the development of genetic tests is classified in different sections such as:
- Genetic Counselling
- Molecular Cytogenetics (FISH)
- Molecular Genetics
- Preimplantation Genetic Diagnosis (PGD)
Below there is some information about these important sections.
Genetic consultation is to give information to the patients who are having a genetic disease or having a risk of a genetic disease, to their relatives regarding the advancement of the illness, treatment methods, the risk of recurring of the illness and solutions. The primary duty of consultants is to convey the correct information and to show people some solutions. Therefore genetic consultancy should never be in a way of directing the patients, contrarily all information should be given understandably and the decision should be given to them.
To be able to diagnose chromosomal diseases during the period of prenatal and postnatal, some tissue such as blood, skin, CVS and amniotic fluid are done cell culture studies. And also chromosome analyses are realized. For the cytogenetics labs along with these studies, analysis is also conducted in mentioned areas such as: Postnatal, Peripheral blood culture and karyotyping analysis, Karyotyping analysis from bone marrow, Karyotyping analysis from skin, Prenatal, Fetal blood culture and karyotyping analysis, Tissue culture from amniyotic fluid and karyotyping analysis,
tissue culture from CVS and karyotyping analysis.
With the development of molecular genetics, now mechanisms lying under many diseases are detected, some methods are put into practice. Genetic diseases are occurred by permanent changes on genetic structures. People have risks of conveying the genetic diseases to their children at different degrees. Defining the diseases at people is important in order to implement some strategies for having healthy generations.
Today, the importance of genetic tests in hematologic diseases such as leukemia and lymphoma has been justified. With the studies performed, the effectiveness of the examination of specific genetic zones in certain disease groups has been proven in some points such as diagnosing and determining the prognosis in the patients. Moreover, it is possible to determine the type of treatment to be applied as a result of the genetic examinations performed in some cases. These genetic tests can also be requested today in order to determine the repetition of the disease at early stages. Recently occurring numerical (such as trisomia etc.) and structural (such as translocation, deletion etc.) anomalies can be determined by performing chromosome analysis on bone marrow and/or peripheral blood samples in some of the patients. FISH tests are also being applied on some patients and the mutations, which are not possible to determine with chromosome analysis, can be determined.
The relation of the cancer development with the genetic mutations is known for long years. After the studies performed, the existence of genetic factors in almost 10% of all cancers is proven. During the genetic researches performed on frequently observed cancer types, some genetic mutations gained by time have been determined in the patients. The mutations in these genetic zones, which are called oncogens, occur on the somatic cells and do not pass to the other members of the family. In addition to this, it causes cancer development in individuals with observed mutation.
In some cancer groups, the familial susceptibility attracts attention. The genetic zones called tumor suppressor gene are responsible for the development of such cancers. For the mutations in these zones to cause cancer, the genetic structure coming both from the mother and the father must be mutated. The first mutation, frequently, is received from one of the parents and the second mutation occurs by time.
Today, it is determined that 10% of breast, over, colon and uterus cancers occur from known genetic mutations. Particularly in people with BRCA1 and BRCA2 mutations, the breast and over cancer development risk is more than 80 and 20-65% respectively. Likewise, for the people receiving the single mutation for one of HNPCC genes (MLH1, MSH2 and MSH6) from their family, the risk for colon cancer development is around 90% and for uterus cancer development is around 40%. The over cancer risk for these people is also 12% and the risk for developing stomach cancer is increased.
Pharmacogenetics; is for exploring the different responses of people on the ground of variations of their genetic structures against treatment and medicine. Because of diversity of genetic structures which are important to function of the mechanism, people are differently affected by medicine for the better or for the worse. Nowadays thanks to some tests, the side effects or the efficacy of the medicine can be defined before hand.
Nowadays, pharmacogenetic analysis is an innovative reality. In this way before used, the toxicity of the medicine can be defined primarily. This method will save patients from side effects and will provide the successful use of complementary medicine.