What are genetic tests? Who is genetic counseling required?

The gene, which is found in the cell chromosomes, which carries the hereditary character traits of a living thing and enables the transmission of these characteristics from generation to generation, is part of the DNA chain. The functions of each gene that ensure the storage of information about the organism are different from each other. Many features such as height, eye color and blood type are formed according to the information contained in the genes.



What is Genetics?

The science of genetics or heredity, which is a branch of biology, is a science that studies how the characteristics of living organisms pass from generation to generation. The science of genetics, which investigates in depth how each feature of living things is formed and how these features are transferred to new living things through reproduction, has a wide range of studies. The science of genetics makes early diagnosis of many diseases possible and contributes to the development of treatment methods.


What Are Hereditary Diseases?

Hemophilia: Hemophilia, which occurs as a result of the inability of the body to produce proteins that allow blood to clot, is an inherited disease and may eventually lead to death.

Down syndrome: Normally the body has 46 chromosomes, 27 in Down syndrome disease. Down syndrome patients with a particular face shape have low intelligence and poor speaking skills.

Color blindness: Another name for the disease caused by the inability of the brain to perceive some colors is daltonism. The brain cannot perceive blue, green, and red, and those with color blindness see the world almost entirely in black and white.

Albinoluk: The skin is very thin and white in albinoluk disease, which occurs due to the lack of melanin pigment that gives the skin its color, and the hair has a white color.

Sickle Cell Anemia: As a result of the disease caused by the red blood cells taking the shape of a sickle, the red blood cells cannot carry the oxygen that the body needs and prevents blood circulation by causing the vessels to be blocked.

In addition to these diseases, hereditary diseases include cystic fibrosis, asthma, autism, leukemia, breast cancer, lung cancer, lymphoma, cancer types such as colon cancer, diabetes, goiter, phenyl ketonuria.


What is Genetic Test?

Genes are located on chromosomes that are in the form of small filamentous structures. Normally, there are 46 chromosomes in each cell. 23 of these chromosomes come from the mother and 23 of them come from the father. In some special cases, a mutation may occur during the copying of a gene that prevents it from working properly. The mutation can be the cause of a genetic disease. A blood or tissue test performed to identify the change in the chromosome or gene is defined as a genetic test.


What Are Genetic Tests?

Early diagnosis of diseases can be made as a result of genetic tests performed through a genetic diagnosis center to determine whether there is an inherited disease from the family. For the diagnosis of all genetic tests, prenatal and postnatal genetic tests are applied.

Prenatal genetic tests: Genetic screening tests are performed on amniotic fluid, chorionic villus cord blood or fetal DNA in the mother’s blood to diagnose the genetic disease that may be seen in the fetus in the mother’s womb. The effect of genetics on pregnancy is an indisputable fact. If there is a genetic disease in the mother or father, healthy embryo transfer can be provided with preimplantation genetic diagnosis embryo selection. The healthiest embryo can be selected with the genetic diagnosis (PGD) test applied to the embryos.

Genetic tests for cancers: The effect of genetics on cancer is enormous. The main cause of mutations that occur in cancer cells are genetic disorders. With genetic tests for cancers, mutations in cells are investigated, and smart molecular drugs can be developed as a result of this research.



What is pharmaco genetic analysis?

Genes’ responses to drugs may differ. Pharmaco genetic analysis is used to determine the genetic causes of reactions to drugs. With this analysis, the toxic effects of some drugs are determined in advance. The effectiveness of drugs used in cancer treatment can be increased with Pharmaco genetic analysis, which ensures the reliability of the drugs used or can be used for treatment. Thanks to the analysis that enables the use of drugs that are suitable for the genetic makeup of the person, the most accurate drug is used at the right dose. Thus, both the side effects of the drug are reduced and the treatment process of the disease is shortened.


Who is required for genetic counseling?

  • Consanguineous couples with a genetic disorder in their family tree
  • Those with physical or mental disabilities and spinal cord or nervous system closure
  • defects in their children
  • Expectant mothers who experienced miscarriage and stillbirth with unknown cause in
  • previous pregnancies
  • Anomalies found in ultrasound
  • Those who have a high risk in screening tests during pregnancy
  • Families with chromosomal changes
  • People with chromosomal abnormalities in their previous child
  • Those who are 35 years of age and older who are pregnant


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