Carrier Genetic Test for single gene disorders by NGS
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 carrier genetic test before pregnancy, which can reveal whether a couple is at risk of having a baby with one of these serious diseases. If so, we 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 inform 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 it useful for? For whom is it indicated?
Generally, parents who are carriers of serious genetic diseases realize it after giving birth to an affected child. Genetic diseases cannot be cured, but can be prevented.
CGT allows us to identify couples in which both are carriers. This can prevent serious genetic diseases, that lack treatment option and are often fatal. A positive result means the presence of one or more mutations in the individual. In that case, the test should be carried out 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 Igenomix?
- Most comprehensive Test: Screening of 549 genes for more than 600 diseases
- Testing with latest technology (NGS) and clinically validated
- Genetic counseling for patients and specialists
- Results in 20 business days
- Availability of 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 6,600 pathogenic 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 disorders analyzed on 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 and 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 a Carrier Genetic 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 Carrier Genetic 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 for all tests available in the market. Moreover, not all are clinically validated; the CGT at IGENOMIX is, thus ensuring only validated results are accepted and compared with the CGT Igenomix.
6. What is the residual risk?
There is a risk that a person is a carrier despite a negative CGT analysis. 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% will be non-carriers and 25% will be 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 20 business 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.
5. CGT Match
The Carrier Genetic Test from Igenomix provides a powerful and exclusive computerized tool called CGT Match. This software allows genetically matched gametes to be selected for a recipient after analyzing the egg or sperm bank of an assisted reproduction clinic.