GCT: Genetic compatibility test
The Genetic Compatibility Test (GCT) prevents the transmission of more than 600 hereditary diseases via the analysis of a blood sample, thus guaranteeing biologically healthy offspring.
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Autosomal recessive diseases are hereditary diseases found in our gene map. Although their prevalence among the population is very low (1% of all new-born babies), many of these diseases are serious and incurable. In fact, genetic diseases are responsible for approximately 20% of infant mortality and 18% of paediatric hospital admissions.
The vast majority of people are healthy carriers of a recessive disorder. If both partners carry the same mutation in their genes, there is a 25% risk that the couple’s child will develop this same disorder, and a 50% chance that the child will be a healthy carrier, which may also bear implications for his or her future offspring.
To avoid this, the Instituto Bernabeu and its genetic unit the Instituto Bernabeu Biotech, offers its patients the Genetic Compatibility Test (GCT), also known as Preconception Screening for Recessive Diseases, based on a new scientific technology known as high-throughput DNA sequencing or Next Generation Sequencing (NGS).
This analysis, which we perform on all our donor candidates, and which we also offer to our patients, reduces the risk of the birth of an affected child from 0.5-1 per 100 to 1 per 40,000 – 50,000, ensuring biologically healthy descendants.
The Genetic Compatibility Test (GCT) is a study to identify mutations in the genes responsible for recessive diseases and linked to the X chromosome. This high-throughput DNA sequencing panel analyses the presence of more than 600 autosomal recessive diseases in the members of a couple.
Thus, from a simple blood sample, we are able to determine the risk of transmitting these diseases to your children and we can act to prevent it.
In our laboratories, the results are obtained in a very short time frame, between 2 and 3 weeks, minimising waiting time and uncertainty for the patient.
We recommend carrying out a genetic compatibility study especially in the following cases:
- When a couple is about to seek pregnancy through natural means or via assisted reproduction treatment with their own gametes, especially if one of the 2 members of the couple (or both) has a family history or is a carrier of a genetic disease.
- When there is some kind of family relationship between the couple (consanguinity).
- When the couple is about to commence assisted reproduction treatment using donor gametes (oocytes or semen). The Instituto Bernabeu guarantees the GCT genetic study of all donor candidates, whether of oocytes or semen, without exception, thus guaranteeing the quality of the gametes and providing the future parents with peace of mind regarding the health of their future child.
This analysis can be performed for any couple before they try to have a child and it is of particular interest for those who may have greater consanguinity (family links) because they would be at greater risk of sharing mutations of the same gene.
If genetic incompatibilities are found in the couple, measures and treatments are available to prevent the disease from being transmitted to their children.
- The first of these is to use In Vitro Fertilisation (IVF) treatment and, once the embryos have been obtained in the laboratory, to perform a Pre-implantation Genetic Diagnosis (PGD) with the aim of transferring to the mother only those embryos that are free from the disease and which will result in a healthy pregnancy.
- Another possibility is the donation of gametes, where we select a gamete that does not carry the same disease as the patient, which would prevent the possibility of the child being affected.
- We are the reproductive medicine centre that performs the most extensive genetic study: we analyse the presence of 555 genetic mutations, that cause more than 600 diseases.
- We have the most advanced technology and our own laboratory, enabling the results to be delivered to the patient more quickly (between 2 and 3 weeks) and guaranteeing traceability of the sample.
- We have our own team of specialists, who also perform important research that helps us to guarantee and optimise the best results.