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What is Genetic Testing?

Test genéticoEven if we do not have a family history or any symptoms pointing to one, we are all at risk of giving birth to a child with a genetic disease. The parents’ genes determine the chances that their child has of inheriting or suffering from a genetic disease. Genetic testing is a precise and powerful tool used to determine the possibility of being a carrier up to 800 genetic disorders.

This type of genetic testing is based on the recommendations made by professional medical organisations, leaders in healthcare and scientists.

What is a gene?

Genes are the instructions that tell our bodies how to grow and function. We have two copies of approximately thirty thousand genes. We inherit one copy from our mother and another from our father.

What is a carrier?

A carrier is a person who has an alteration or a mutation on one copy of a gene which affects the gene’s function. In a carrier, the other copy of the gene is normal, thus allowing the carrier to remain healthy.

What are Autosomal Recessive Disorders?

Genetic disorders are a result of gene mutations. Autosomal Recessive Disorders occur when a mutation is present in both copies of the gene. In order for a child to inherit an Autosomal Recessive Disorder, both parents must be carriers of the mutated gene and must also both pass down the altered copy to the child.

What is genetic screening?

Carrier screening is available in order to determine whether or not someone is a carrier of a mutated gene that could cause an Autosomal Recessive Disorder. If these alterations are confirmed in both the mother and the father, they will have a 25% chance of giving birth to a child with the disorder. With the test results – which are constantly reviewed by Recombine genetic counsellors – we can help you to understand the results, make medical decisions and answer any of your questions.