CARRIER SCREENING TEST

It is estimated that there are currently between 5,000 and 7,000 rare diseases that affect patients’ physical capacity, mental ability and their sensory and behavioural qualities. These rare diseases are, for the most part, chronic and degenerative. In fact, 65% of these diseases are serious and incapacitating and are characterised by:

• Early occurrence in life (2 out of 3 occur before the age of two years);
• Chronic pain (1 out of 5 patients);
• Development of motor, sensory or intellectual deficit in 50% of cases, which give rise to impaired autonomy (1 out of 3 cases).
• In almost 50% of cases, the vital prognosis it at stake, since rare diseases account for 35% of deaths before the age of one year, 10% between the age of 1 and 5 years and 12% between the age of 5 and 15 years.

The DNA we all carry in our cells consists of two chains, one from our father and one from our mother. Our DNA contains all the information about who we are and who we will be. The information is distributed in over 20,000 genes and, since we have 2 chains of DNA, we have 2 copies of each gene. 
Some genes carry essential information for life and, if these genes are faulty in any way, the consequences are severe. The fact that we have two copies of each gene means that one gene acts as a backup in the event that the other gene mutates. 
For a recessive disease to develop, both copies of the same gene (the genes from the mother and the father) must undergo a mutation, meaning that neither of these genes will work, giving rise to a recessive disease.
If only one copy has a mutation, the disease will not occur. 

A carrier is a person that “carries” a mutation in a gene but does not have a disease. In other words, that person has a mutation in one of the chains of his/her DNA, with the backup gene at work. Virtually all carriers are unaware that they are carriers.
If a carrier has a child with another carrier of a mutation in the same gene, they will have a 25% chance of having a child with a recessive disease.

There are certain mutations that occur more often in a population than others. These are known as prevalent mutations.
The carrier screening test that we offer is the most complete test on the market. It includes the study of 10,000 mutations in 600 genes responsible for recessive diseases. As well as all prevalent mutations, it also includes many others, giving this test a high level of detection. 

The carrier screening test is aimed at any couples who are planning to have a child and wish to avoid the occurrence of a recessive disease.
In cases which there are fertility issues and there is a need to donate eggs or sperm, the donor must also undergo this test, since it is his/her DNA that will be transferred to the future child.

Three million people with rare diseases means 6 million carriers had a child with a rare disease. It is a very large number for a population like Spain’s.
It is important to know whether or not you are a carrier, and if you are, which gene or genes show a mutation, and to ascertain whether your partner carries mutations in the same genes.
Do not leave your child’s health to chance.
 

After taking a simple blood test, you will receive the results in just 15 days.

To undergo the test, call 902 121 054 or email genetica@e-icm.net and we will tell you how to proceed and direct you to your nearest laboratory.

To undergo the genetic study, you must first complete the application form and sign the informed consent form.

ICM boasts a team of genetic counsellors to support you and answer any questions you may have, such as the risk of having a specific mutation, the risk of having cancer, whether or not genetic testing is suitable, the likelihood that your relatives may have the disease, etc.

You can count on them. They are there to help. Please email our team at pacientes@e-icm.net.

You could also attend a consultation with one of the geneticists of our group.