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GENETIC CARRIER TEST
 
IT IS ESTIMATED THAT EVERY PERSON IS THE CARRIER OF 3 TO 5 GENETIC MUTATIONS  
WHAT IS THE GENETIC DISEASE CARRIER TEST?

It often happens that mothers and fathers are surprised by the birth of a baby with some type of genetic disease, which cannot be cured, but it can be prevented. According to the WHO 1% of the babies born suffer from some disease linked with the mutation of a gene. A genetic disease carrier test, also known as genetic compatibility test or carrier test, can tell us whether we are the carriers of some type of mutation.

It should be borne in mind that being a carrier does not mean having the disease, but that one of the two copies of the gene has a mutation and the other works correctly.

Most carriers do not have a family history, that is why it is not a valid factor to determine whether the person is or is not the carrier of mutations that can be passed down on to their children.

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At the Sagrada Familia Assisted Reproduction Center we recommend taking the genetic disease carrier Test prior to an assisted reproduction treatment. By the genetic carrier test we can rule out cystic fibrosis (present in one out of 25 people), spinal muscular atrophy (one out of every 50), Duchenne muscular dystrophy, fragile X syndrome, hemophilia, congenital hypothyroidism, recessive renal polyposis, hereditary deafness or a group of hereditary anemias known as thalassemias.

HOW IS THE GENETIC DISEASE CARRIER TEST CARRIED OUT?

The genetic compatibility test is a DNA analysis carried out from a blood sample of the couple with the objective of identifying monogenic diseases. The complete sequencing of different genes corresponding to different genetic diseases is performed. The results are available in about 25 days

When two people are carriers of a mutation in the same gene, there is 50% chance their children will be carriers of a genetic mutation, 25% chance they are not carriers and 25% chance they are born with the disease.

On the other hand, when one of the parents is a genetic mutation carrier and the other is not, the chances their child will not inherit the parent’s mutation are 50%, and the probability of not inheriting it is 50%.

A negative result indicates that the person is not a carrier of any of the mutations studied.

WHAT IF WE RESORT TO A SPERM OR AN EGG BANK?

The law does not require that the sperm or egg banks conduct a carrier test. It only requires a karyotype and ruling out prevalent diseases depending on the donor’s race. In the case of Caucasian donors, the majority population in Spain, cystic fibrosis and Fragile X Syndrome are ruled out.

Even though it is not required by the law, at the Sagrada Familia Assisted Reproduction Center, we believe that it is essential for all the donors to take the carrier test, that is why we demand they do so. Our main objective goes beyond a positive pregnancy; we want to help you conceive healthy babies.

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