The Genetics Laboratory has been granted a “genetic diseases diagnosis Center license” since 2003 and has been deemed suitable for cytogenetics/molecular genetics. The center has started primarily to investigate problems in infertile (infertile) couples and mainly to work on “reproductive genetics”, where detected problems can be solved with IVF treatments. He then began to apply diagnostic and treatment techniques to enable couples with genetic transitive disease to have healthy children and to treat their sick children. Currently, it is one of the very few centers in the world that can apply these methods, but it has become the second center in the world in terms of the number of patients. It has realized many firsts in Turkey with its work in this field and especially with its success in “PGD-Preimplantation Genetic Diagnosis” applications and has become an active Center in this regard abroad.
With our current staff, 6 biologists and 1 Specialist Doctor are working in the cytogenetics Laboratory, molecular cytogenetics laboratory and molecular laboratory, which are subunits of our genetic diagnosis center.
A) in cytogenetics laboratory, chromosome analysis is performed from blood, amniotic, CVS material, evacuation material and tissue samples.
b) in the Laboratory of Molecular Cytogenetics, FISH (fluorescent In Situ Hybridization) analysis can be performed by applying fluorescent dyes to the same type of samples, and genetic diagnosis (PGD) can be applied to embryos when necessary by the same method.
c) in the molecular laboratory, samples such as blood, amniotic fluid and CVS can be looked at for molecular diagnosis of various diseases with PCR after DNA isolation. In addition, genetic diagnosis (PGD) can be applied to embryos in diseases that show familial transition. It is also possible to conduct Advanced Studies in this laboratory, which has a very large working panel.
To whom genetic counseling is required:
1.A hereditary disease carrier or possession of the disease
a. Single gene diseases (Autosomal Dominant, recessive or X chromosomal inherited)
b. Chromosomal disorders (numerical disorders, translocations)
c. Multifactorial diseases (blood, heart, kidney, bone diseases and cancer)
d. Mitochondrial diseases
2.Finding children or children with genetic disease
a. One or more congenital abnormalities
b. Development retardation and short stature
c. Gender development defects
d. Mental retardation (mental retardation)
3. In relatives of such people
a. Diagnosis of hereditary disease
b. Course of the disease and treatment methods
c. Determination of recurrence risks
d. Referral of people at Risk
4.Inbreeding (distribution of inbreeding within the family)
5.Encounter with a teratogenic agent
6. Recurrent pregnancy losses
7. Advanced maternal age (≥37)
8.Infertility (male and female factors)
Genetic counseling, a genetic disease, persons at risk of carrying or transport, and these relatives of persons in the course of the disease and treatment, together with recurrence risks and the solutions, which should be made is to provide information about which tests and their results. A person who gives advice can be a geneticist, as well as a doctor or biologist in other specialties who have been trained in this subject. The primary task of these people, called Genetic Counsellors, is to accurately and fully transmit the information about the disease discussed to the family and provide solutions. For this reason, genetic counseling should never be directed. On the contrary, all information should be told in a way that the person or people can understand, and the decision should be made by the people concerned.
Before genetic counseling, it is important that the diagnosis of the disease is finalized. It is therefore detailed by a geneticist
family history should be taken and the family tree (pedigree) should be removed. If the patient is a child, the parents of the sick person should be found during the receipt of the family history and removal of the family tree, and the information should be taken directly from the parents themselves. Sick children and family members should be examined. In order to identify the disease, or in cases where the disease is defined but the form of inheritance cannot be determined, many advanced studies such as chromosome analysis, DNA analysis, enzyme levels may be needed.
The risks identified during these procedures can range from the fact that the risk does not recur in the new pregnancies of couples to the risk that all their children will be born sick. After these operations;
a. If the disease has been diagnosed or a genetic cause has been determined, the family is informed about the problems that the disease can cause, its consequences, risks in New pregnancies, and what to do before and after pregnancy.
b. If the form of inheritance of the disease is determined in families that cannot be diagnosed, the family can be informed about the risks of recurrence.