When should a genetic test be carried out ?

May 28, 2024

Genetic tests are used to analyse an individual's DNA in order to identify genetic variations that may be the cause of disease or predisposition to certain pathologies. While these tests are attracting increasing interest, it is important to understand the situations in which they may be useful.

Diagnosis of a genetic disease

One of the main indications for genetic testing is the diagnosis of a suspected genetic disease. In the presence of symptoms suggestive of a genetic disease, or when there is a family history of this type of pathology, a genetic test can confirm or refute the diagnosis. 

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This can help guide medical treatment and suggest preventive measures for family members. If you need a genetic test, follow the link https://quickdna.eu/.

Carrier screening

Carrier screening is carried out on people who do not have the genetic disease itself, but who are at risk of passing it on to their offspring. This type of test is particularly useful for couples with a family history of recessive genetic diseases, such as cystic fibrosis or sickle cell anaemia. If both partners are carriers of the same mutated gene, their child has a 25% risk of suffering from the disease.  

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Carrier screening enables couples to make informed choices about procreation, in particular by considering pre-implantation diagnosis (PGD) for couples using in vitro fertilisation (IVF).

Predictive diagnosis

Predictive diagnosis aims to determine the risk of an individual developing a genetic disease for which there is a hereditary predisposition. This type of test is offered to people who have a parent with a dominant genetic disease, such as Huntington's disease or hereditary fibrillary neurosis. 

The result of the test enables the individual to better understand their risk and make informed decisions about their health and their future.

Pharmacogenetics

Pharmacogenetics is an emerging field which studies the influence of genetic variations on drug response. Pharmacogenetic tests make it possible to determine the most appropriate dosage and choice of treatment for a patient on the basis of his or her genetic profile. This makes it possible to optimise the effectiveness of treatments and limit side effects.