Genetic diagnosis is used for early diagnosis of diseases as a result of genetic tests in order to determine whether there is an inherited disease from the family.
Prenatal (prenatal) and postnatal (postnatal) genetic tests are performed for the diagnosis of all genetic tests.
The detection of diseases such as SMA and Down Syndrome before is very important for guiding families.
Genetic diagnosis services are provided at reputable genetic diagnosis centers contracted with RumiPulse.
The importance of clinical genetics is use of this method to detect 100,000 genetic diseases. Detailed history of families is taken, examinations are done and counseling is provided.
In a paternity test, the DNA of the child and the father is compared. The differences of the same gene region analyzed in the father and the child are analyzed by the person. By using DNA markers, 99.99% results are given and the doubts in the mind of the person are cleared.
Like paternity test, the specific gene regions of the individual are determined and the individual profile is revealed. The purpose of this test is to compare the DNA of the reproductive cells taken from the mother and father in order not to mix the parental reproductive cells to be frozen with the law enacted by the Ministry of Health.
In cytogenetic studies, peripheral blood, amniotic fluid, fetal blood (baby cord blood), amniotic fluid, CVS (cord villus biopsy), evacuation material (abortion material), tissue and skin biopsy may be analyzed.
Prenatal (prenatal) and postnatal (postnatal) diagnostic methods are performed.
Prenatal diagnosis is of great importance because advanced maternal age causes chromosomal anomalies. At the same time, if there is a chromosomal abnormality in the previous birth, cytogenetic studies are also recommended in the next birth.
In molecular cytogenetics, chromosomes are stained with various chemicals. These chemicals are substances with fluorescent properties. This method is called FISH (Fluorescence In Situ Hybridization). In accordance with the purpose, certain regions of the chromosomes may be detected by staining.
FISH method may be analyzed in peripheral blood, fetal blood (baby cord blood), amnion, CVS (cord villus biopsy), tissue skin biopsy, sperm and blastomere (embryo).
In this way, chromosomal anomalies can be determined. Numerically excess chromosomes may be identified.
The first trimester of pregnancy is very important for the detection of anomalies that may occur in the baby. These determinations are made by ultrasonographic methods and biochemical tests. Prenatal diagnosis is the detection of diseases that may occur in the fetus before the birth of the baby with invasive and non-invasive methods.
PCR (Polymerase Chain Reaction) is a method that enables the reproduction of a small number of DNA and the identification of the microorganism. It ensures that the disease agent is taken from the sample. In this way, the disease agent is found early and allows early treatment.
Molecular microbiological studies can be performed from serum / plasma, tissue sample (biopsy), body fluids (CSF), urine and feces. PCR processes are performed and DNA is amplified. The amplified DNA is carried out in electrophoresis and the identification of microorganisms is performed by connecting specific probes. As a result, the treatment of the person is planned.
Although methods such as amniocentesis, cordocentesis or CVS are not high, they have a miscarriage probability. Therefore, Circulating fetal DNA method has emerged among the new methods.
The blood cells of the baby circulate in the blood of the expectant mother. The genetic material (fetal DNA) in these cells is separated by methods. The purpose of this method is to detect chromosomal disorders of the baby.
Pregnancy over the age of 35, those with high risk in screening tests, and those who have children with chromosomal disorders can have this test done.
It gives accurate results over 99% in trisomy 21 (Down's Syndrome), 98% in trisomy 18, and over 65% in trisomy 13.
- PGT Pre-implantation Genetic Diagnosis
It is the genetic study done before the baby is placed in the mother's womb after in vitro fertilization studies. With this study, chromosomal anomalies are known before pregnancy occurs. Due to the genetic diagnosis made before pregnancy, miscarriages that may occur during pregnancy are reduced and physical and psychological conditions that may occur in this way are prevented.
