Genetic testing in children

When is genetic testing in children necessary?

ESTUDIOS GENÉTICOS PEDIATRÍA

How can we help you?
Non-obligation guidance

Genetic testing allows us to identify the mutations that cause a given genetic disorder. It lets us know if a child is affected by a given genetic disorder, or if the child is a carrier when the parents either have the disorder or are carriers of it. It is also used when there is a clinical indication that the child has a specific genetic disorder.

What does genetic testing in children consist of? 

Genetics is an essential tool in the field of medicine since there is a hereditary component to a considerable percentage of health issues in humans. Any illness that has a genetic basis can be diagnosed using molecular biology techniques. A genetic test of a given illness consists of identifying the mutation in the gene that causes that illness. 

What is genetic testing in children used for? What is its purpose? 

Genetic testing tells us if a person has the mutation that causes a given genetic disorder. 

What does genetic testing in children entail? 

A sample of the child’s blood is needed. It is used to extract DNA and carry out the test. The test itself consists of identifying the specific mutation that causes an illness. 

When is genetic testing in children advisable? 

It is recommended in children whose parents are affected by or are carriers of a given genetic disorder and who wish to know if their child is affected by that disorder or not. This information enables them to make appropriate therapeutic decisions as early as possible. It is also recommended in children who have clinical symptoms of a specific genetic syndrome so that a diagnosis can be confirmed.