Genetics Unit

Specialised Unit for Genetics Advice

Detecting genetic mutations to minimise the risk of our children developing recessive diseases is the objective of the innovative carrier test offered by the Specialised Genetics Advice Unit at the HLA Vistahermosa Genetics Centre. This analyses 15 genes from 16 pathologies transmitted when both of the couple are carriers of the mutation from the same gene, such as cystic fibrosis, congenital non-syndromal deafness or spinal muscular atrophy.

This test is a significant advancement in reproductive genetics. In order to avoid both gametes, female and male, having the same genetic alteration, the test is applied to both the donor and receiver, and if both  gametes, eggs and spermatozoids, are from the donor, both are studied.

The research, which has been published in the “Medical and Genome Genetics” journal, shows the results from the implementation of this test in a population of 523 gamete donor candidates, of which approximately 80% are female and 20% are male. For this, 15 genes associated with 16 more prevalent autosomal recessive diseases in our environment, following scientific recommendations.

After the study the team determined that 20.3% of the population studied was a carrier of at least one pathogenic or probably pathogenic mutation. This means that when both of a couple are carriers of the same recessive pathology, there is a risk of 25% that they will have an affected child in each gestation.

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