The Genetic Compatibility Test, also known as Genetic Matching, is a technique that allows us to decrease the transmission of genetic disorders to our children as we are able to detect whether the mother or the father carries some type of mutation (abnormalities in a particular gene).
Of all the genes in our bodies, we are all bound to have some with mutations.
These mutations may or may not affect our health. Recessive disorders manifest themselves when both parents carry the same disease-causing mutation. Although these patients show no symptoms nor have any family history of the disorder, they are known as carriers. This is possible even when they have no prior family history.
We all have gene abnormalities, but by taking this test we can find out whether our abnormalities could cause our children to have a disorder.
If both partners are carriers of a gene mutation linked to a recessive disorder, there is a 25% chance that their child will have that disorder although neither of them do. When both parents have the same mutation, there is a 25% chance that their child will be born with that disorder. In addition, there is a 50% chance that their children will also be carriers of that disorder which may appear in future generations.
How many diseases can the Genetic Compatibility Test detect?
At Clínica Tambre, we study 320 genes with 32,749 variants responsible for 368 genetic disorders that may develop in children of seemingly asymptomatic parents. The test includes severe prevalent disorders and rare disorders that affect 1 in every 100,000 babies born.
It also includes the most common disorders in paediatric emergencies as well as neonatal and intrauterine death. For such cases we analyse 552 genes linked to 448 recessive disorders, focusing heavily on severe childhood-onset recessive disorders.
Both partners of the couple can be tested if both provide their gametes, or alternatively a donor, providing an egg and/or sperm, and the other partner of the couple can be tested.
After testing both parents, the information is cross-matched (matching) to verify whether both are carriers of the same recessive disorder because, if that were the case, they would have a 25% higher chance of passing the disorder on to the embryo.
By using cutting-edge technology and 3 different diagnosis techniques we can fully optimise the genetic test and inform patients of any possible health risks to their future baby. Once we have the results of the genetic test for both parents, the data is cross-matched in order to calculate the couple’s reproductive risk.
If both partners provide gametes and some sort of incompatibility is found, we recommend that Preimplantation Genetic Screening (PGS) is carried out to select the healthiest embryos.
If donor gametes were used, the partner will be matched with a genetically compatible donor.
The genetic disorder test can also be used in the gamete donation programme. By testing the patient and the donor’s gametes (whether sperm or eggs) we can find the “perfect donor.”