Inherited monogenic diseases

How can tellmeGen help me with a test on monogenic hereditary diseases?

Monogenic or Mendelian hereditary diseases are caused by a mutation or alteration in the DNA sequence of a single gene. Since these are specific genetic alterations, the presence or absence of the disease can be determined with absolute certainty through a genetic test.
Excluding the sex-linked genes (X and Y), these diseases are classified into two groups:
Dominant monogenic disease, where only one mutated gene is required to have the disease. An affected parent has a 50% chance of passing the disease to their children.
Recessive monogenic disease, where both genes with the mutation are necessary. For children to have the disease, both parents must pass on the pathogenic gene. A person with one mutated variant of the two is called a "carrier" and can transmit it to their children but does not have the disease.
If the disease is located in the sex genes, it's different. For example, a diseased father (XY) will always have diseased sons (XY) and healthy daughters (XX).
With the study of hereditary diseases by tellmeGen, you will have the opportunity to make decisions or take actions alongside your trusted healthcare professional.

Which ranges include hereditary or monogenic diseases?

These reports are exclusively included in the Advanced DNA kits.
With this range, you will also have access to learn about the results of your DNA test related to your genetic predisposition to diseases, pharmacological compatibility, personal traits, wellness data, an ancestry DNA test, and the possibility of accessing the DNA Connect service.

What are the main monogenic hereditary diseases?

Not all hereditary genetic diseases occur with the same frequency. Several of them are characteristic of specific populations and regions. It is also important to know the family's clinical history to check for pathologies; in those cases, the most advisable action is to undergo a genetic test for hereditary diseases present in relatives.
In general, among the most frequent would be thalassemia, cystic fibrosis, Tay-Sachs disease, or sickle cell anemia.

Difference between hereditary and congenital diseases

Hereditary diseases are those that are passed from parents to children. Therefore, knowing the family's clinical history, it is advisable to do a genetic test for predisposition to those present in relatives.
On the other hand, congenital diseases are those that are present in the individual from birth.
However, they are not synonymous. A hereditary disease that does not cause alterations from birth would not be considered congenital. Similarly, there are congenital diseases that have not been transmitted by their parents and are due to other problems during the embryo's development.

I would like to know more about the report on monogenic diseases:

Here, you can see a demo example of the results in the section. Upon access, you will see the list of diseases we analyze. If you wish to view the technical report for each one, simply click on its name.

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