Genetic studies

Genetic compatibility test

This test helps people to have healthy children. It detects mutations in genes and chromosomes which don’t cause any disease to the carriers but that can trigger pathologies in the descendants.

With a simple blood extraction we obtain a sample to carry out a molecular study of over 6.000 mutations and a cytogenetic study (karyotype) which allows us to identify possible chromosomal alterations.

The molecular diseases studied are of recessive inheritance. Both parents have the same mutation and therefore their progeny are in risk of inheriting and developing the disease. This are rare diseases but together they make a large number and affect about 1 in 100 live births.

Chromosomal alterations

A mutation is a gene alteration. Our genome (genetic load) is made up of more than 20.000 genes distributed in 22 pairs of chromosomes called autosomes plus one pair of sex chromosomes; XX for females and XY for males. Each gene has two copies; one comes from the father and the other from the mother.

• Autosomal dominant inheritance diseases. When talking about Neurofibromatosis, a single gene altered of the 22 pair of autosomes can trigger the disease. These cases are easy to detect as the carrier has the disease. The study of the family tree, and during the genetic counselling session, we can see more cases in all the across generations.
• Autosomal recessive inheritance diseases. In the case of other conditions, it is necessary to have both copies of a certain gene in any of the 22 autosomes. An example of this is cystic fibrosis. When you are a carrier of a single mutation, there are no symptoms of the disease, but there is a risk of transmitting this mutation to our children. If the other partner has the same mutated gene, then our children are in risk of inheriting both mutated genes from the parents and therefore develop the disease.

It is impossible to know if there is any mutation, as we are all carriers of one of these genetic mutations, unless there has been a case in the family. That is why it is important to know our genetic status before having any children.

Importance of chromosomal disorders

The chromosomal disorders are changes in the DNA formation, in those chromosomes not involving gain or loss of genetic material and, therefore, cause no symptoms in the carrier. Though they may originate the formation of anomalous gametes which will present a risk of pathologies in their own children. If any change in the tests studied is detected, we would have to carry out the study in the partner. Therefore, it is advised to hold a genetic counselling session previous to the test.

The content of the Compatibility Genetic Test includes:

• Genetic counselling session
• Cytogenetic study by karyotype
• Molecular study