What diseases does the genetic compatibility test detect?
The genetic compatibility test: what it is and how to do it
A genetic compatibility test is a study performed between a couple who want to conceive a child . Basically, it involves taking a DNA sample from each person (blood or saliva) and analyzing up to 2,000 genes . This provides a fairly complete map of the potential risks for each partner.
By comparing both samples, we can check for genetic mutations that can cause hereditary diseases , specifically recessive genetic diseases . This is very useful because it reduces the risk of miscarriage and problems after a pregnancy. In assisted reproduction techniques, it's important to know this because it reduces the need for so many attempts.
There are genetic mutations that can be linked to 2,200 recessive genetic diseases . Consider that if both partners have mutations, there is a 50% chance that the children will be carriers, a 25% chance that they will have the disease, and a 25% chance that they will be healthy.
The diseases detected by the genetic compatibility test
Mutations are often related to proteins that don't function properly. Although the genetic compatibility test detects several diseases , we'll focus on a few in particular. They are:
1. Genetic compatibility test: Sickle cell anemia
Sickle cell anemia , also known as sickle cell disease, is a disease in which red blood cells develop a sickle shape . Although it's possible to maintain a good quality of life if the disease is controlled, it does carry an increased risk because blood circulation can be blocked by the shape of the red blood cells.
2. Muscle atrophy
Muscle atrophy syndromes are common and basically involve a lack of muscle mass development . This atrophy can develop in different ways, so it's important to understand the potential for this condition to occur.
3. Canavan disease
Canavan disease , which can also be detected with a genetic compatibility test , is a neurodegenerative disorder with several serious negative consequences. Detecting it before conceiving is essential because it significantly affects quality of life.
4. Phenylketonuria
Phenylketonuria is a rare, inherited disorder. It basically involves a malfunction of the enzyme that breaks down phenylalanine, which requires a strict diet and extreme caution. This results in associated risks to both physical and intellectual development.
5. Cystic fibrosis
Cystic fibrosis is a buildup of mucus in certain areas of the body, especially the lungs and pancreas . This disease is hereditary and can cause various daily problems, as well as respiratory and/or digestive risks.
6. Galactosemia
Galactosemia is a disease that causes galactose, a substance found in dairy products, to fail to break down . Although the usual treatment is replacing these foods with formula, the consequences of this condition vary, ranging from pain and nerve damage to cataracts and infections.
7. Hemophilia
Hemophilia , which is a tendency to not stop bleeding , is very common in consanguineous couples . In fact, it has been a recurring problem in numerous royal families (including the Spanish one). Therefore, if there is a relationship (full or second cousin) in the couple, it is especially important to get tested to rule out this possibility.
8. Familial hypercholesterolemia
Familial hypercholesterolemia is a relatively common genetic disorder. As a result, the breakdown of cholesterol that builds up in the blood and accumulates in the arteries is hindered , increasing the risk of premature cardiovascular disease.
9. Mucopolysaccharidosis
Mucopolysaccharidosis , a rare condition, causes a reduction in the enzymes that break down sugar . The result is that sugar builds up in the body, which obviously increases the risk of various ailments, from deafness to bone growth problems and even cognitive impairment. There are several subtypes , including Hurler syndrome (the most serious), Hunter syndrome , Sanfilippo syndrome , and Morquio syndrome .
10. Marfan syndrome
Marfan syndrome is a genetic disorder. It involves an alteration in a protein (fibrillin) that disrupts the function of connective tissue . What happens in these cases? Joints are weaker, and people with this condition are more likely to have heart, eye, skin, or nervous system problems. In any case, they could have a long life expectancy.
11. Tay-Sachs syndrome
Tay-Sachs syndrome , a genetic disorder, is an abnormal accumulation of fat in the brain . The consequence is problems with vision, hearing, growth, and other basic functions. The problem is that it is a disease that is not usually detected in the first months of life, but manifests later and, because it is uncommon, is considered rare. Furthermore, the life expectancy of children born with this syndrome is very short.
12. Fragile X syndrome
Fragile X syndrome is a very common genetic disorder and its consequences. The problem here is that the body produces too little protein for brain development , leading to cognitive problems. Children with this syndrome, if the genetic mutation is significant, may experience intellectual development problems, speech problems, nervousness, or shyness.
13. Thalassemia
Thalassemia is one of the most common genetic diseases. It occurs when the body doesn't produce enough hemoglobin , resulting in a shortage of red blood cells. This can lead to anemia , which can vary in severity depending on the case. It can also cause serious growth disorders.
In conclusion
Taking a genetic compatibility test before fertilization, whether natural or assisted, is highly recommended. Therefore, we recommend comparing the different types of tests available. At Genotica , we can help you with this. Check out our comparison tool!