People from the Saguenay-Lac-Saint-Jean, Charlevoix and Upper North Shore areas are at higher risk of carrying genetic variants leading to some serious recessive diseases. This is the result of how the population in these regions was established and what is called a founder effect with a high birth rate. In order to contribute to the genetic health of tomorrow, the Genolife – My Genetic Health team is available to help this clientele.
Genetic testing, as well as support from an experienced genetic counsellor, will help you better understand your genetic status and your risk of giving birth to a child with one of the tested diseases. All adults who wish to have children or of childbearing age can choose to take a genetic test. A couple where both are carriers of the same recessive disease has an increased risk of having a child with that disease. Knowing that some of these diseases are fatal or incurable, better knowledge leads to informed decisions!
Among the recessive diseases common in these regions of Quebec:
- Cystic fibrosis
- Congenital lactic acidosis
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Hereditary motor and sensory neuropathy with or without agenesis of the corpus callosum (Andermann syndrome)
- Hereditary tyrosinemia type 1
Take a genetic test and find out if you have a genetic variant associated with one of these diseases. Our genetic counsellors will be happy to accompany you and to explain the results of your testing and their implications.
By being aware of your genetic health, a whole future generation is protected!