Recessive hereditary diseases
Step 2: Check if you are eligible
Carrier screening tests are available for people from the Saguenay–Lac-Saint-Jean, Charlevoix and Haute-Côte-Nord regions who meet the following criteria:
- are 18 years of age or older;
- have at least one biological grandparent who was born in one of the following regions:
- Saguenay–Lac-Saint-Jean,
- Charlevoix,
- Haute-Côte-Nord;
- are in any of the following situations:
- want to have children,
- are 16 weeks or less pregnant or are the partner of someone who is 16 weeks or less pregnant.
Partners who are planning a pregnancy must check if they are eligible for screening. If only one of the partners meets the criteria, only they can be tested. If they are found to be a carrier of one of the diseases, the other ineligible partner may also be tested.
Carrier screening is offered free of charge to eligible people who live in Quebec and who:
- have a valid Quebec health insurance card;
- or are covered by a specific agreement, such as members of the Canadian Armed Forces.
Eligible people who do not have a valid health insurance card or who are not covered by a specific agreement must pay for the tests themselves.
Procedure to follow if you are already pregnant
If you are 16 weeks or more pregnant or if your partner is 16 weeks or more pregnant, contact the genetics service responsible for your region. If you are 12 to 16 weeks pregnant inclusively or if your partner is 12 to 16 weeks pregnant inclusively, you must both do the carrier screening tests as soon as possible.
To find out more, go to the page Participate in carrier screening for autosomal recessive hereditary diseases in people from the Saguenay–Lac-Saint-Jean, Charlevoix and Haute-Côte-Nord regions.
Procedure to follow if you are under 18 years of age
If you are under 18 years of age or if your partner is under 18 years of age, contact the genetics service responsible for your region.
Last update: April 15, 2025