How are genetic diseases diagnosed?
Diagnostic methods for genetic diseases
It's interesting to note that methods for diagnosing genetic diseases vary in accuracy ; in some cases, the accuracy is absolute, while in others, a combination of different methodologies is advisable.
There are many reasons to undergo a DNA test , but health is undoubtedly the most important. And not just for the here and now, but also for the future. Furthermore, it should be noted that in some cases, these genetic diseases are detected during pregnancy or can be inferred before conception , while others are diagnosed late . Therefore, it is not unusual for this conclusion to be reached after several consultations.
Here we show you the most common types of tests that exist, as well as when they are performed:
Blood test
Blood tests are used to check whether key variables (proteins, cells, or chemical substances) are normal. Although they are not usually sufficient, per se , to diagnose a genetic disease, they do serve to rule out and, above all, to consider this hypothesis. For this reason, it is common to start with a blood test before trying other alternatives.
It's worth noting that there are several blood tests, each of which can be more or less comprehensive, depending on the needs. For this reason, if there's no clear idea, a complete blood test is usually performed.
Urine analysis
Urine tests are generally complementary to blood tests. They also aim to check for any abnormalities, and here, special emphasis will be placed on the kidneys and everything related to that area. A complete blood test typically involves both blood and urine.
As in the previous case, this analysis serves as the first step to rule out or locate the problem. Keep in mind that many people don't have genetic testing for their parents, and that for many diseases, there isn't yet sufficient genetic evidence.
Genetic carrier test
Genetic carrier testing is undoubtedly the most direct option for determining whether a person has a genetic disease . It is performed directly on the individual concerned and serves to determine whether they have a disease or are a carrier of a gene that can cause disease.
This test can be performed at any time in a person's life, as this factor is irrelevant. Although it's often performed on infants with symptoms, it can also be performed on asymptomatic children or adults . This way, certain disorders can be confirmed or ruled out.
Without a doubt, it's the most comprehensive test available, as it directly analyzes a person's genetic sample. It's also worth noting that it's the most expensive, although its price has become more affordable in recent years.
Compatibility test to rule out genetic diseases
Genetic compatibility testing is performed between two members of a couple , usually before conception. In this case, the purpose is twofold : to determine whether either partner suffers from a genetic disease and to determine whether the combination of the two partners' DNA is more or less likely to cause their offspring to suffer from that disease. For all these reasons, this test is increasingly being used for preliminary screening.
You should know that this test is always recommended, but even more so if you have any blood ties to your partner, even if they're indirect. It would also be useful for couples from endogamous backgrounds.
Amniocentesis
Amniocentesis is one of the most common prenatal diagnostic techniques and is performed from the 15th week of pregnancy . It essentially involves extracting a sample of amniotic fluid from the placenta and analyzing the DNA of the cells. This can be used to detect genetic disorders such as Down syndrome, cystic fibrosis, and sickle cell anemia, among others.
Let's keep in mind that amniocentesis is common, for example, if there's a genetic predisposition or if the mother is older. We must also bear in mind that, after the age of 40, the chances of the fetus carrying Down syndrome increase.
Chorionic biopsy
Chorionic villus sampling is another common prenatal diagnostic technique . A tissue sample is extracted from the placenta for subsequent cell analysis. It is generally performed starting in the 10th week of pregnancy . Some of the genetic diseases that can be detected include Edwards syndrome, Patau syndrome, trisomy 16, Turner syndrome, and Klinefelter syndrome.
This test is performed as an alternative to amniocentesis in some cases. And, as a general rule, it's quite accurate, although highly invasive. Therefore, the first option is to check for genetic predisposition.
How to get a genetic test?
Today, there are several options for genetic testing . Many private laboratories offer carrier or genetic compatibility tests. Simply send the sample, and once the test is complete, the laboratory sends the results with complete confidentiality.
The main problem, until recently, was the cost, as there were few specialized laboratories. However, recently, coupled with the growing interest, accessing a test is relatively inexpensive. You can also compare the prices and see which is the best option for you.
Therefore, we can say that detecting a genetic disease or predisposition is no longer so difficult. And, more importantly, it's a quick and confidential process.
Conclusion
Genetic diseases can be detected in several ways , and depending on the stage or symptoms, the diagnosis may be made sooner or later. There are several laboratories where genetic testing can be performed, and at Genotica , we provide a complete list so you can compare and find the best price. Contact us if you have any questions!