What is a carrier screening test for autosomal recessive hereditary diseases?

A carrier screening test is a genetic test that identifies whether a person is a carrier of a variant in a gene associated with an autosomal recessive hereditary disease. A carrier has a genetic change, but this change does not affect their health. If you want to learn more, see the section How an autosomal recessive hereditary disease is passed on.

Carrier screening is offered to people who are planning a pregnancy, especially if there is a family history or genetic risk factors. Knowing your carrier status allows you to make a free and informed decision about possible reproductive options.

Carrier screening is usually done on a blood sample or on a saliva sample taken from the mouth. These two methods are used to obtain the DNA needed to analyze the genes and identify variants associated with autosomal recessive hereditary diseases.

Some people choose to do carrier screening tests to get accurate information that will help them plan a future pregnancy. Others prefer to know their carrier status even if the information has no influence on their pregnancy plans.

Conversely, some people decide not to do carrier screening. They may not want to know if their future children are at risk of developing a genetic disease.

You are free to agree or refuse to have the tests just as you may choose to get tested for one or more autosomal recessive hereditary diseases. Doing carrier screening is a personal choice and your participation is voluntary.

If you are undecided, you should give yourself time to think about it, on your own, with your partner or as a couple. You can have the tests later, if you want.

To be eligible for carrier screening, a person must meet eligibility criteria which may be different depending on the carrier screening test and the autosomal recessive hereditary diseases involved.

Partners who are planning a pregnancy must check if they are eligible for screening. If only one partner meets all the criteria, only they can be tested. If they are found to be a carrier of one of the autosomal recessive hereditary diseases, the other ineligible partner may also be tested.

If you are 12 to 16 weeks pregnant inclusively, you must do the carrier screening tests as soon as possible. Go to the page that corresponds to your situation: Carrier screening for autosomal recessive hereditary diseases in people from the Saguenay–Lac-Saint-Jean, Charlevoix and Haute-Côte-Nord regions or contact the genetics service responsible for your region.

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.