The carrier genetic test is a study that detects recessive genetic diseases. Recessive diseases are those that manifest themselves if the same defective gene is inherited on both the male and female sides.
If a couple carrying the same recessive mutation decides to have a baby, these are the statistics:
There is a 50% chance that the baby will be born a carrier and not manifest the disease even though it has a mutated gene. Then, there is a 25% chance that the baby will be born without inheriting any mutated gene and a 25% chance that it will inherit both altered genes and manifest the disease.
When a couple, or a woman, decides to go to an assisted reproduction clinic, for any type of treatment, this possibility is offered in order to perform this genetic test. This is not the same as a karyotype.
The test we perform is qCarrier Plus. This is a genetic study that studies 308 diseases (complete gene) and 60 X-linked genes.
It includes neonatal screening diseases and reduces serious diseases at the reproductive level. Among the diseases studied by this genetic test are: cystic fibrosis, thalassemia and Fragile X.
Frequently asked questions
- How does the qCarrier plus genetic study work? In order to perform this study, blood is drawn for subsequent analysis and the results are obtained 3 to 4 weeks later. Once you have the results in hand, you can schedule a visit with a geneticist and receive all the information regarding the results.
- In what cases is this study recommended? This study is recommended in case of suspicion of transmission of a genetic disease. In this way it is possible to diagnose and propose a solution at the reproductive level. Also, in case of choosing a gamete donation program such as: egg donation or sperm donation.