Genetic Test

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Genetic exam, genetic or DNA test, etc. There are many meanings used when referring to one of these complex tests. A test that could improve the life of any human being by giving him/her enormous and very valuable information about him/herself.

What is a genetic test?

A genetic test is "the analysis of DNA, chromosomes, proteins, and metabolic processes to detect inherited diseases, relating to genotype, mutations, phenotype, or karyotype, for clinical purposes" (Holtzman & Watson 1997).

It is a complex test performed in a laboratory specializing in DNA analysis, and serves to identify the genetic cause (i.e. genetic mutation) of a particular disease or trait in a patient.

When the alterations in the genome are so large that they can be detected by looking at the chromosomes under the microscope, it is called karyotyping or cytogenetic study.

When, on the other hand, the changes in the genome are so small that they affect a single chemical base of the DNA, they are called molecular studies and it is necessary to sequence a small part of the person's genome. Sophisticated DNA analysis techniques are necessary to achieve this.

These genetic tests can diagnose hereditary diseases based on genetics, serve to calculate risks of suffering certain diseases in which genes play an important role, and also play an important role in the metabolization of different drugs or drugs. In addition to knowing the ancestry (ancestry test) of a person.

To perform a genetic test it is necessary to study the genetic material found in our cells. Normally it is done from a blood sample but in several analyses it is possible from a specific saliva sample.

A genetic test can be performed by extracting the DNA and reading this portion of the genome. Every human being possesses two copies of each gene, one inherited from his father and one from his mother. It is believed that there are more than 25,000 genes. Since DNA testing may cause ethical and psychological problems, it is sometimes accompanied by genetic counseling.

Types of genetic testing:

There are different types of genetic analysis and tests (prenatal test, genetic fingerprinting, etc...) but tellmeGen offers the following:

Predictive Test: These tests are used to detect mutations that are associated with diseases that may appear throughout life. These tests can help people who have a family member suffering a genetic disease but they are not suffering it when the test is performed to predict if they will suffer the disease in the future, to know their genetic susceptibility to suffer it. These predictive tests identify mutations that increase or decrease the chances of developing a disease. Genetics will play a role in different degrees but knowing these results will help make important decisions about health care to mitigate the risks of developing a disease.

Carrier Test: The carrier genetic test is used to screen people who own one copy of a genetic mutation. When that mutation is present in two copies, it causes a genetic disease. This kind of test is offered to people who have a family history of genetic disorders and people of ethnic risk groups who have specific genetic diseases. If both parents are tested, the test can provide information about the risk of having a child with genetic problems.

Pharmacogenetic Test: The goal of pharmacogenomics is to create drugs and prescriptions tailored to each patient and tailored to their genomic conditions. It helps to determine which drug will be most effective and powerful, determine which drug will be the safest (limiting side effects) and determine the proper dose of a given drug. This test is of immediate application. It is important to be aware that in addition to genetic factors, environment, diet, lifestyle and health status may influence in the response to a drug.

Traits: Different phenotypic characteristics which are determined by genetics in a greater or lower measure. They can also help to reach a broader knowledge about oneself: from nutrigenomics to eye color, baldness, obesity, metabolic values, etc.

Ancestry: The genetic ancestry tests allow those persons interested in their family history to obtain complementary information to that they could find through their relatives or in the historical records. Examining DNA variations can give us clues about the origins of a person’s ancestors. Certain patterns of genetic variation are often shared among people with a particular background.

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