A carrier panel, or carrier screening test, is a genetic test that identifies genetic variants associated with recessive hereditary diseases in prospective parents and, in the case of egg or sperm donation treatments, in gamete donors.
There are more than 1,000 known monogenic recessive diseases. Many people carry genetic variants associated with recessive conditions without being aware of it, as carriers usually do not develop the disease.
It is estimated that around one in 300 children is born with a genetic condition associated with recessive inheritance. Carrier screening can identify couples at increased risk of passing certain recessive genetic diseases on to their children, helping them make informed reproductive decisions.
The test is performed using a blood or saliva sample from the patient. The test analyses more than 500 genes associated with recessive hereditary diseases and assesses genetic compatibility between the person providing the eggs and the person providing the sperm.
This makes it possible to identify whether there is an increased risk of passing a recessive genetic disease on to the future child and to make the most appropriate reproductive decisions in each individual case.
When both partners carry disease-causing variants in the same gene, there is an increased risk of having a child affected by the associated recessive genetic disease, as the child may inherit an altered copy of the gene from each parent.
If both partners are carriers of the same genetic condition, several reproductive options may be considered depending on the individual case:
All decisions should be made with appropriate genetic counselling.
Genetic compatibility testing can help to:
Identifies whether both partners carry disease-causing variants in the same gene, which may increase the risk of having a child affected by a recessive genetic disease.
In egg or sperm donation treatments, the test helps select a genetically compatible donor, reducing the risk of passing recessive genetic diseases on to the future child.
Helps reduce the risk of passing serious recessive genetic diseases on to future children, including conditions for which there is currently no cure.
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Spanish legislation on assisted reproduction requires assisted reproduction centres to assess egg donors for genetic, hereditary and infectious conditions that could be transmitted to their offspring.
Screening may include genetic conditions that are more prevalent in certain populations, such as Fragile X syndrome, cystic fibrosis and thalassaemia.
However, limited screening may not identify other genetic conditions that could affect the health of the future child. For this reason, IVF-Life goes a step further by performing genetic compatibility testing on its egg donors, with the aim of reducing genetic risks for patients and future children.
Because most of these diseases are autosomal recessive, meaning that there is an increased risk for the baby if both partners carry disease-causing variants in 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 carry disease-causing variants in the same gene, there may be an increased risk of their children being affected by 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 genetic variants associated with recessive diseases. Many people are carriers without showing symptoms or developing the disease because only one of their two copies of the gene is affected, while the other continues to function.
The risk arises when both partners carry disease-causing variants in the same gene, as their child could inherit an altered copy from each parent 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.
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