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Genetic Compatibility Diagnostic Test

Test aimed at detecting, in parents, the possible presence of genes that cause diseases that could be transmitted to their children

The Genetic Compatibility Test (CGT) is a diagnostic test that allows us to identify the presence in future parents of genes that cause diseases that could be passed on to their children.

Each person is born with genetic characteristics that distinguish them from others and make them unique.

While most differences in DNA sequence between different people are harmless, some changes, called genetic mutations, can make that person a carrier of a specific genetic disease that can be transmitted to their children.

Carriers of genetic diseases are typically healthy individuals, completely symptom-free and unaware that they are at risk of passing on this DNA 'error' to their offspring.

Thus, the CGT enables the couple to know, through the analysis of their DNA, whether they are carriers of serious genetic diseases and what the risk of transmitting them to their children is.

What does the CGT involve?

The test involves taking a simple blood sample at the CMR, which will then be sent to the molecular genetics laboratory.

This allows multiple testing for various hereditary genetic diseases, including those most frequent in the Italian population, such as Cystic Fibrosis, Sickle Cell Anaemia, Thalassaemia, and Hereditary Deafness.

Who is CGT for?

- For couples planning to become parents, , either through natural conception or through access to medically assisted reproduction (MAR) techniques;

- For couples using heterologous fertilisation techniques, in order to identify a gamete donor who does not carry mutations in the same genes found in one of the couple's partners.

The examination can be carried out on one or, preferably, both partners of the couple.

This type of analysis can be carried out on any couple before trying to have a child and is particularly useful for those with a higher risk of consanguinity (family ties), because the likelihood of sharing mutations in the same gene is greater.

If both parents are carriers of a specific mutation, the probability in each pregnancy of having an unhealthy child is 25% (1 su 4).
In such cases, it is necessary to resort to in-vitro fertilisation treatment, in which the embryos generated are subjected to preimplantation genetic diagnosis. That makes it possible to analyse which of them are not affected by the mutation and thus which can be transferred to the patient.