HealthMedicine

How to do a genetic analysis? Genetic analysis: reviews, price

The development of genetics over time has transcended the limits of purely scientific teaching and passed into the field of practice. Many modern doctors use the data of genetic tests in order to make the right diagnoses, to anticipate possible diseases and to eliminate the factors contributing to their development. For this, the patient only needs to pass a genetic analysis that will show the full picture of the predisposition to diseases.

A word about DNA

Deoxyribonucleic acid (DNA) is a complex set of nucleotides that are added to chains - genes. It is this intracellular formation that carries hereditary information received from the parents and transmitted to the children.

At the time of embryo formation, very rapid cell division is carried out. At this stage, small glitches occur, which are called gene mutations. They determine the individuality of a person. Mutations can be either positive or negative.

Scientists have partially been able to decipher the human genetic code. They know the presence of which genes causes disease, and which contribute to the inherent resistance to some diseases. Genetic analysis gives doctors a picture of how to better treat the patient, given his predispositions.

Monogenic Diseases and Polymorphism

Doctors recommend making a genetic analysis for each person. It is held once in a lifetime. Based on its results, a genetic passport is compiled. It indicates all possible diseases and predisposition to them.

Congenital diseases include monogenic mutations. They arise from the change of one nucleotide in the gene to another. Often such substitutions are completely harmless, but sometimes they can cause serious illnesses. Among them belong, for example, phenylketonuria and muscular dystrophy.

Polymorphism is associated with the replacement of nucleotides in genes, but does not directly cause disease, but only serves as an indicator of predisposition to such diseases. Polymorphism is a fairly common phenomenon. It manifests itself in more than 1% of the individuals in the population.

The presence of polymorphism shows that under certain conditions and the influence of harmful factors, the development of a particular disease is possible. But this is not a diagnosis, but only one of the options. If you lead a healthy lifestyle, avoiding harmful factors, it is likely that the disease will never appear.

Genotyping of congenital diseases

The development of modern genetics allows not only to ascertain the presence of congenital diseases or predispositions to them, but also to predict the health of unborn children. To do this, parents at the stage of pregnancy planning must pass a genetic analysis. This is especially important if one of the parents already has complicated illnesses.

This also applies to diseases that are transmitted genetically. Among them is haemophilia, from which virtually all the monarchic dynasties of Old Europe suffered, where marriages were spread to strengthen political ties.

Also genetic analysis will show the predisposition of the future child to cancer, diabetes, hypertension, ischemic heart disease. This is especially important if one of the future parents in the family had such diagnoses. Genes of predisposition may be in a recessive (depressed) state, but it is likely that they will manifest themselves in the future child.

Pregnancy tests

If at the time of the child's planning it is recommended to pass tests to the parents, then during the pregnancy the genetic examination of the fetus is carried out. For this purpose, amniotic fluid, umbilical cord blood or parts of the placenta are taken for analysis.

Such studies are necessary in order to determine the possibility of congenital diseases. These are completely unpredictable diseases that arise from intrauterine mutations that can not be predicted in advance. Among such diseases belongs Down's Syndrome, when the fetus, for some reason, has an extra chromosome. The normal number for a person is 46 chromosomes, 23 pairs, one from the father and the mother. With Down's Syndrome, the 47th unpaired chromosome appears.

Also genetic mutations are possible after the transfer of complex infectious diseases during pregnancy: syphilis, rubella. Based on the results of such an analysis, a decision can be made about an abortion, since the future child will be completely unviable.

Women at risk

Of course, it would be better to make an analysis of intrauterine diseases for every future mother, but there are a number of indications for this procedure. First of all, it's age. After 30 years, the risk of developing pathologies in the fetus is always great. It also increases if there were cases of miscarriage. To already in the early stages of knowing about the danger, it is necessary to pass tests that show that everything is in order.

Happen to pregnant and infectious diseases, and injuries. They can also affect the course of the formation of the fetus. The earlier they occurred, the greater the risk of dangerous mutations.

There is always the danger of incorrect fetal development, if at the time of conception or in the early terms afterwards, the mother was exposed to the influence of dangerous factors. They include alcohol, strong drugs, psychotropic substances, X-rays and other exposures.

And, of course, it is better to be safe if the family already has one child with congenital pathologies.

Paternity test

There are in life and such situations where the paternity of the child can not be established. Either for some reason, there are doubts that the father and the child, or the mother and the child are relatives. In this case, you can conduct a genetic analysis of the blood to determine the relationship. The accuracy of such a study is more than 90%.

And the procedure itself is not complicated. It is enough only to hand over the blood of the parent and child. By several indicators it is easy to determine whether there are common genes in these two people.

The definition of paternity is generally used in forensic science to prove or disprove the need for alimony.

Predictive Medicine

Every year physicians strive to not cure diseases, but to warn them before the first symptoms are manifested. As genetic analysis shows, this is not so difficult. Since by genotype it is already possible to guess to which diseases a person is located most.

This direction has received the name predicative (predictive) medicine. Based on the genetic passport, the doctor determines the lifestyle of his patient, warning him against dangerous moments that can become a trigger mechanism for the development of a disease. It is much easier and cheaper than going through a long, and sometimes not very effective, therapy.

HIV / AIDS Testing

Today, even HIV / AIDS tests are done with the help of genetic research. The procedure is not complex, but time-consuming to carry out the study. But the results of such an analysis are more accurate and indicative.

Many modern diagnostic centers make genetic analysis, the price of which is available to every average patient. Everything depends on the goals: the cost varies from 300 rubles to tens of thousands. Therefore, there is no reason to refuse to conduct such an informative study, especially if it can save the life of you and your children.

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