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Genetic analysis: What is it?

Genetic analysis is a highly complex test performed in laboratories specialized in genomic analysis. This study allows identifying the genetic cause (the mutation) of a given disease in a patient. In some cases, mutations can be large enough to be detected by microscopic observation of chromosomes; this type of analysis is known as karyotype or cytogenetic study. However, mutations are usually smaller changes affecting a single base in the DNA (one letter of the genome).

To detect such small mutations, sophisticated DNA analysis techniques are required. These much more complex techniques are known as molecular studies and are usually performed by sequencing a small portion of the patient’s genome.

In order to genetically test someone, the genetic material found inside our cells must be studied. The type of sample required to obtain genetic material is usually a small amount of blood. To perform a chromosomal study (or karyotype), cells must be cultured and processed to allow for chromosome observation under a microscope. To analyze a specific DNA region, the DNA must be extracted from cells and a particular region of the genome must be targeted. The test methodology with the highest resolution for genetic diagnosis is DNA sequencing, the same technique that has been used to map the human genome.

This technique has become a benchmark for genetic diagnosis, as it allows reading each person’s genetic information at the level of each one of the chemical bases that constitute DNA (A, G, C, and T, the genome’s alphabet).

Genetic testing can be done with the purpose of diagnosing a disease or to detect the existence of genetic mutations that can be transmitted to offspring or increase the likelihood of developing specific diseases (such as certain types of hereditary cancer).

This type of genetic tests must be prescribed by a specialist doctor through a Genetic Counseling Consultation in which the person susceptible of requesting the test and their relatives are informed about the potential implications of the results for them or for their offspring, as well as about the test’s advantages, risks, and possible alternatives. The main reasons to request a Genetic Counseling Consultation are the following:

  • Presence of a hereditary or suspected hereditary disease in the family.
  •  Presence of diseases with genetic predisposition in several members of the family, e.g. cancer, neurodegenerative diseases, or cardiovascular diseases.
  •  Infertility.
  •  Family history of congenital diseases, dysmorphias, or syndromic forms in newborns.
  •  Risk assessment for pregnancy planning.

If you are in any of these situations, please refer to your specialist doctor or contact us through the contact form or call +34 963 212 340.

Genetic testing must always be prescribed by a physician and performed in a specialized and duly accredited laboratory.