These are tests to detect genetic diseases. The sequence, shape and structure of genes are investigated in samples taken from the human body. These examples can be blood, saliva, bone marrow, amniotic fluid, urine, body fluids, cancerous tissues.
Although genetic testing continues to evolve, they are still expensive tests and are not covered by most reimbursement agencies. On the other hand, genetic test results can cause anxiety and fear in people. Therefore, in genetic tests, the patient should be well informed before and after the test and genetic counseling should be given.
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Why is genetic testing done?
- Genetic analyzes can be performed on prenatal amniotic fluid, cord blood, etc. materials. These give information about possible genetic diseases that can be seen in the baby to be born.
- If there is a genetic disease in the mother or father, it is possible to prevent the genetic disease by selecting the healthiest embryo with genetic tests performed on the embryos.
- Genetic diseases can be detected.
- While there are no symptoms or diseases, it gives information about the diseases that you are a carrier of genetically. This is important in terms of knowing the risk and taking precautions for your future children.
- Genetic characteristics also determine a person’s risk of developing certain diseases. This risk can be detected by genetic testing.
- In some types of cancer, genetic testing is beneficial in terms of the course of the disease and, more importantly, the determination of drugs and their doses.
- Understanding your genetics can help determine your lifestyle habits (type of diet, type of exercise, etc.).
What are genetic tests?
Different genetic tests can be done according to the disease to be investigated. Some of these are those:
- Chromosome analysis,
- FISH (fluorescent in situ hybridization),
- molecular karyotyping,
- PCR (polymerase chain reaction),
- DNA sequence analysis,
- Rh incompatibility tests,
- factor tests,
- Thrombophilia tests,
- Cancer (breast, prostate, etc.) tests etc.
Who is recommended genetic testing?
- Children with developmental delay,
- Children born with anomalies
- children with mental retardation,
- Those with a family history of genetic disease,
- Some cancer (breast, prostate, etc.) patients,
- Some cancers in the family (breast, prostate, etc.),
- Couples planning to get married
- couples who cannot have children,
- Couples with recurrent stillbirth
- Fetal examination in pregnant women over 35 years of age,
- epilepsy patients,
- Those with certain diseases such as multiple sclerosis, alzheimer’s.
What is genetic counseling?
It is aimed to provide information about the disease, its course, risks, treatment and prevention methods to people who are diagnosed with a genetic disease, who are suspected of a genetic disease, and to their families and relatives. In this way, information is given about genetic diseases, possible ways of protection are described to people, and the incidence of genetic diseases is tried to be reduced.
Genetic counseling is also recommended for people who are offered genetic testing.