For each Family 

Genetic testing and counselling in carrier screening for serious hereditary diseases

 

Genetic counselling and analysis is used to test whether a person is a carrier of a serious hereditary disease. A carrier test encompasses the genetic testing of a healthy person for serious hereditary diseases, which could occur in children if both parents carry and pass on the same pathogenic gene.
 

Added value of genetic testing

• Certainty in relation to personal genetic predisposition

• Information for couples who are planning a family together 

• Reliable information for other family members, especially first-degree relatives

Which genes are tested? 

Hereditary conditions may be caused by the presence of mutations or changes in the DNA sequence of a single gene. As these are specific genetic alterations, their presence or absence could be assessed by an appropriate genetic test.

Regardless of the sex chromosomes (X and Y), these conditions are classified into two groups:

Condition with autosomal dominant inheritance, only one mutated gene is needed to develop it. A diseased parent has a 50% chance of transmitting the mutation to their children.

Condition with autosomal recessive inheritance, the two genes with the mutation are missing. For children to have it, both parents must pass on the pathogenic gene. A person with a single mutated variant is called a "carrier" and can pass it on to his or her children, but would not have the condition.

If the condition is associated with genes located on the sex chromosomes, the classification and form of inheritance are different. For example, a sick father (XY) will always have sick 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.