Genetic Studies

Genetic Studies

The HLA Vistahermosa Reproduction Unit has a Reproductive Genetics department where doctors and specialists work with the necessary equipment to carry out an accurate genetic diagnosis and rule out possible hereditary genetic diseases.

What is SecureMATCH?

SecureMATCH detects mutations in genes and chromosomes that do not cause any disease in carriers, but can trigger pathologies in their offspring.

This test helps to have healthy children.

With a single blood draw, a sample is obtained for a molecular study of more than 6,000 mutations, and a cytogenetic study (karyotype) that allows possible chromosomal alterations to be identified.

The molecular diseases studied are recessively inherited, meaning that both parents must have the same mutation for their offspring to be at risk of inheriting them and developing the disease. These are rare diseases, but together they are a high number and may affect up to 1 in 100 births.

Chromosomal alterations

Our genome (genetic load) is made up of more than 20,000 genes distributed in 22 pairs of chromosomes called autosomes and one pair of sex chromosomes, XX in females and XY in males. There are two copies of each gene, one from the father and one from the mother. A mutation is an alteration of a gene.

  • Diseases of autosomal dominant inheritance: it is sufficient to have one of the genes altered in one of the 22 pairs of autosomes to cause the disease. These cases are easy to detect because the carrier suffers from the disease, in the study of the family tree, during a genetic counselling session, more cases appear in all the generations of the family.
  • Diseases with autosomal recessive inheritance: in other pathologies it is necessary to have mutated two copies of a specific gene in one of the 22 autosomes. An example is cystic fibrosis. When you are a carrier of a single mutation, you do not have any symptoms or disease, although there is a risk of passing this mutation on to your children. If the other partner has the same mutated gene, then our offspring are at risk of inheriting both mutated genes from the parents and having the disease.

Unless there has been a case in the family, which is rare, it is impossible to know if there is a mutation, as we are all carriers of one of these mutations. This is why it is important to know our genetic status before having a child.

Importance of chromosomal alterations

Chromosomal alterations are changes in the conformation of the DNA in the chromosomes that do not entail either loss or gain of genetic material, and therefore do not cause symptoms in carriers, but they can lead to the production of abnormal gametes that will cause a risk of pathology in the offspring.

If any of the alterations studied in the test are detected, the corresponding study should be carried out on the couple. It is therefore advisable to have a genetic counselling session prior to the test.

The content of SecureMATCH includes

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