1. I am a healthy person. Can I be a carrier of genetic mutations?
Yes, in fact it is estimated that each person carries between 3‐5 recessive genetic mutations. Being a carrier is not the same as getting the disease. Everyone has two copies of each gene. In individuals carrying, one of the copies is working correctly, and the other copy has the mutation.
The carriers are asymptomatic, so that they are not aware of this condition until a test carrier of genetic mutations are performed.
2. In my family there is no history of genetic diseases.
Most carriers have no family history, so it is not valid to determine whether or not the person is a carrier of mutations that can be transferred to their offspring by just family history.
3. These diseases are rare so it is not necessary to perform CGT.
The prevalence of carriers for some of these diseases is quite common in the population. In fact, one in 25 people are carriers of Cystic Fibrosis, and one in 50 for Spinal Muscular Atrophy.
4 .No need for the CGT because I expect to get pregnant naturally.
The American College of Medical Genetics (ACMG) and American Congress of Obstetricians and Gynecologists (ACOG) recommend genetic testing for carriers regardless of pregnancy occurring naturally or through assisted reproduction techniques. If both partners test positive in Genetic Compatibility Test with the same gene mutation, the recommendation is to consult a specialist about options for conceiving a healthy child.
5. My partner performed a genetic compatibility test in another laboratory, and I am doing mine with Igenomix CGT. Is the first test that my partner did still valid for use?
Each test uses its own technology, and provides the screening for a number of mutations and diseases that do not match at all test available in the market. Moreover, not all are clinically validated, and the CGT at IGENOMIX is, thus ensuring only validated results accept and compared with the CGT Iviomics.
6. What is the residual risk??
It is the risk that a person is a carrier after a CGT negative for mutations and diseases has been analyzed. There is currently no test able to detect all existing mutations, so there remains a residual risk that the person who has done the test is a carrier of other less frequent mutations.
7. If I am a carrier is it desirable for people in my family who are planning a pregnancy to conduct a CGT?
If you are a carrier, your immediate family will have greater risk of being carriers, so we recommend that CGT is done if they are planning to have children.
8. Will my children be carriers of recessive genetic mutations?
When two people carry a mutation in the same gene they have a 50% chance that their children will be carriers of a genetic mutation, 25% of non‐carriers and 25% are born sick. Moreover, when there is a parent that is a carrier of a genetic mutation and the other is not, the probability that their child will inherit the mutation of the carrier parent is 50%, the chance of not inheriting, 50%.
9. How long do I need to perform the test? I am planning for Assisted Reproduction treatment.
Test results are available in 30-40 days. In cases where the beginning of treatment is very close, always take the CGT of the two partners simultaneously so that the results are obtained at the same time and the process is not delayed.