Important family planning genetic test to determine the risk of having a child with a genetic disease
1. What is it?
Each year, many parents are surprised by the birth of a baby with some genetic disease. Igenomix has developed an advanced genetic compatibility test before pregnancy, which can reveal whether a couple is at risk of having a baby with one of these serious diseases. If so, can take steps to promote the birth of a healthy baby.
The CGT is an important family planning genetic test, because it helps determine the risk of having a child with a genetic disease. The test results informs on whether the parents are carriers of one or more genetic mutations.
The carriers are usually healthy people, but when both parents are carriers of a mutation on the same gene it can result in an affected child.
2. What is useful for? For whom is indicated?
Generally, parents who are carriers of serious genetic diseases realize it after giving birth to an affected child. Genetic diseases can not be cured, but can be prevented.
CGT allows us to identify couples in which both are carriers. This can prevent serious genetic diseases, without treatment and many of them fatal. A positive result means the presence of one or more mutations in the individual. In that case, the test should be carried out also in the other member of the couple. If both are carriers of a mutation in the same single gene, there is high risk of having a sick child. In these cases there are options to conceive healthy children such as Preimplantation Genetic Diagnosis or gamete donation. It is also possible to conceive naturally and resort to prenatal diagnosis. A negative result indicates that the person does not carry any of the mutations studied.
There remains a residual risk that this person is a carrier of other (less common) mutations analyzed.
It does not cover diseases of complex inheritance as autism, asthma and diabetes among others.
3. Advantages. Why with Igenomix?
- Most comprehensive Test: Screening of 549 genes for more than 600 diseases
- Testing with latest technology (NGS) clinically validated
- Genetic counseling for patients and specialists
- Results in 30 days.
- Available specific a specific module for gamete donation programs.
Unique genetic screening test based on massive sequencing (NGS) and clinically validated, making it the most comprehensive and accurate test.
Includes screening of 15.000 mutations and 549 genes for more than 600 genetic diseases.
We offer high quality services in reproductive genetic diagnosis with one objective: patient satisfaction.
We offer the full panel of the specialists throughout our CGT website.
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 t is, thus ensuring only validated results accept and compared with the CGT Igenomix.
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 working 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.