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Logotipo de Euroespes Health que presenta un cerebro estilizado formado por líneas rojas y azules entrelazadas a la izquierda, que simboliza las "pruebas avanzadas para detectar el Parkinson". Las palabras "euroespes health" están escritas en minúsculas a la derecha sobre un fondo oscuro.
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Diagnostic Genetics

Genetic testing helps us to know ourselves, so our doctor can personalize treatment.

Genetics and Diagnostics

Monogenic genetic diseases are caused by the alteration of the DNA sequence of a single gene, resulting in an alteration in the protein encoded by that gene. They are transmitted from generation to generation, in the offspring, and may or may not manifest themselves, following a Mendelian inheritance pattern.

 

More than 6,000 monogenic diseases are known, and their prevalence is 1 case per 200 births. It is believed that more than 10,000 diseases are of monogenic origin.

 

These diseases are caused by mutations in the nucleotide sequence of a gene, due to the substitution, loss or gain of nucleotides.

 

A mutation can cause alteration of the amino acid sequence of a protein and thus can alter its conformation and function, resulting in a disease phenotype. 

 

Therefore, the effect of a mutation depends on the nature of the DNA sequence change.

Monogenic diseases follow classical or Mendelian inheritance patterns: autosomal inheritance (dominant or recessive) and sex-linked inheritance.

When the result obtained after genetic analysis gives us evidence of mutations that are pathogenic in themselves, we can establish a molecular diagnosis based on the appearance of the mutation, giving the patient the status of carrier or diseased, depending on the dose and transmission characteristics of the genetic disease in question.

Genetic disease

Genetic disease is caused by alteration of the individual's DNA. This alteration can affect a single gene, several genes, a chromosome or several chromosomes. All diseases to a greater or lesser extent have a genetic component.

 

Genetic diagnosis makes it possible to know the genetic basis of a hereditary disease, and the information that can be obtained is necessary for decision-making in several aspects:

  • Treatment: The result of a genetic study that can determine the most effective type of treatment against the pathology.
  • Evolution and prognosis: a hereditary pathology can have different severity or evolution depending on the causative mutation. Genetic diagnosis makes it possible to anticipate its manifestation in order to adequately prevent it.
  • Form of inheritance: A genetic alteration can be transmitted recessively, dominantly, depending on sex or sporadically by association of risks inherited from our parents. Interpreting this aspect makes it possible to estimate the chances of it being transmitted to offspring and of its manifestation.
  • Avoid transmission of the pathology: Knowledge of the genetic basis of a pathology makes it possible to prevent its transmission to offspring, using prenatal or preimplantation genetic diagnosis methods.
  • Family study: The implications of a genetic test are also important for the direct relatives of those affected, so it is advisable to evaluate the convenience of extending it to other members of the family. It is possible that a genetic alteration manifested in a second, third or fourth degree relative may also manifest itself in other branches of the family.

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