An autosomal recessive disease is one that a person can suffer if there are two mutated copies of the same gene, that are inherited from the parents (one from the father and one from the mother). If there is only one mutated copy, the person will be a carrier but, in general, will not suffer from the disease. Examples of these diseases are cystic fibrosis and sickle cell anemia.
This test is done by a simple blood collection.
Within 4-5 weeks we will have the results for hundreds of diseases.
The result of the test informs us if the patient is the carrier of the mutations analyzed, as well as the name of the disease, the chromosome that is mutated, which gene, gene region, the variant that it presents and its type. In reality, practically everyone is a carrier of an autosomal recessive disease.
This test is useful to reduce and greatly minimize the risk of having a child affected by genetic diseases. However, as new variants and diseases are being discovered the study of genetic compatibility is always playing ‘catch-up’; it can however be extremely effective in identifying known diseases.
When this happens, we must inform them about the possible risks for the offspring, and if there is a pregnancy, it would be advisable to carry out a prenatal study to know if the fetus is affected or not by the disease that the parents carry.
Another option would be to carry out an in vitro fertilization cycle along with a preimplantation genetic diagnosis (PGD) to detect those embryos not affected by the disease and to transfer these to the woman.
In our center we carry out the of the genetic compatibility test for all our donors. Therefore, if a couple want to carry out a donation we will take a blood sample from the member of the couple whose gametes will be used, and we will submit it to the same test as the donors, then we crossmatch their data and we are then able to choose a donor who is genetically compatible with the patient, to reduce as much as possible the chances that a child will be born with an autosomal recessive genetic disease.