Genetic exam

What is a genetic exam?

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

It is a complex test performed in a laboratory specialized in DNA analysis, and serves to identify the genetic cause (i.e. genetic mutation) of a certain 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, conversely, 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 provide information on hereditary conditions based on genetics, serve to calculate the genetic vulnerability to suffer health conditions in which genes play an important role, and also play an important role in the metabolization of different drugs or medicines. In addition to knowing the ancestry (ancestry test) of a person.

To perform a genetic exam 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 exam 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 exams:

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

Predictive testing: These tests are used to detect genetic mutations associated with health conditions that may appear throughout life. These tests can help people who have a family member who suffers from a health condition but does not have it at the time of testing. In order to predict whether it will manifest in the future. These predictive tests identify mutations that increase or decrease genetic vulnerability to health conditions in which genetics plays a role to a greater or lesser extent. Knowing these results helps in making health care decisions.

Carrier testing: Carrier genetic testing is used to screen for people who possess one copy of a genetic mutation that, when present in two copies, causes a genetic disease. This kind of testing is offered to people who have a family history of genetic disorders and to people from ethnic groups with a wide risk of having specific genetic diseases. If both parents are tested, the test can provide information on a couple's risk of having a child with genetic problems.

Pharmacogenetics: The objective of pharmacogenomics is the creation of drugs tailored to each patient and adapted to their genomic conditions. Knowing which drug will be the most effective, which drug will be the safest, the appropriate dose of a given drug, etc., which has an immediate application. It is important to be aware that in addition to genetic factors, the environment, diet, lifestyle and state of health can influence a person's 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.