The carrier panel or carrier test is a genetic test that studies recessive hereditary diseases present in both prospective parents and gamete donors, in the case of egg or sperm donation treatments.
There are more than 1,000 monogenic recessive diseases, and most humans carry between 14 and 18 severe recessive genetic mutations. Is estimated that one in 300 children are born with rare diseases due to these mutations.
This test is carried out by means of a blood or saliva sample.
It enables the identification of more than 500 ancestral genes and establishes the genetic compatibility between the woman who provides the eggs and the man who provides the sperm.
This will prevent the combination of both gametes giving rise to a recessive disease that will manifest itself in the future baby.
What happens if both of us are carriers of the same gene?
When both partners are carriers of a mutation in the same gene, the risk of having children with a recessive genetic disease increases, because this combination may cause the baby to inherit two “defective” copies of the same gene.
If both parents are carriers of the same gene, there are several treatment options depending on each specific case:
All decisions should be made with genetic counseling.
Performing a genetic compatibility study or carrier screening is necessary, as it eliminates the risk of transmitting over 300 diseases to offspring. The carrier panel allows us to:
which leads to an increased risk of having children with recessive genetic diseases. Its main objective is to reduce the transmission of genetic disorders to offspring.
For egg and sperm donors, this test allows us to select a donor who does not have the same genetic mutation as the recipient.
as it can analyze conditions which currently have no cure.
PATIENTS
FIND ANSWERS TO YOUR QUESTIONS
The Spanish Law on Assisted Reproduction requires assisted reproduction centres in Spain to test egg donors to ensure that they do not have genetic, hereditary or infectious diseases.
According to the law, fertility clinics usually investigate the most frequent diseases according to the geographical area to which they belong, as in the case of Caucasians (Fragile X syndrome, cystic fibrosis or thalassaemia).
This partial study leaves the door open to many other diseases that can affect the baby's health. Based on these data, and aware of the spectrum of diseases that remain outside the study, IVF-Life wanted to go a step further and believed it was important for the health of future generations and for its patients to carry out a genetic compatibility test on its egg donors.
Because most of these diseases are autosomal recessive, meaning that there is only a risk for the baby if both partners are carriers of the same gene.
The aim of the test is to identify whether both partners carry mutations in the same genes that cause recessive hereditary diseases. If both partners are carriers of the same mutation, there is a significant risk that their children may be born with a serious genetic disease. This risk can only be assessed when both partners are tested and their results are compared.
Being a carrier does not mean that you will develop the disease. The test looks for recessive genetic mutations, and many people are carriers without showing any symptoms or developing the disease, because only one of their two gene copies is altered while the healthy copy continues to function.
The problem only arises if both partners are carriers of the same mutation, as there is then a risk that the child will inherit both altered copies and develop the disease.
Before starting a natural pregnancy or a fertility treatment, as performing the test in advance allows you to identify whether you or your partner are carriers of recessive genetic mutations that could affect your offspring.
WHAT OUR PATIENTS SAY