Description
The offer of carrier screening tests is intended for people from the regions of Saguenay–Lac-Saint-Jean, Charlevoix, and Haute-Côte-Nord who want children. The offer of carrier screening tests allows them to:
- learn about four recessive genetic disorders that are common in these regions, which are home to a large number of carriers of the defective genes associated with the following disorders:
- get tested so that they can find out if they carry a defective gene responsible for any one of these disorders.
Carrier screening tests are performed on a sample of cells swabbed from inside the cheek. The cell sampling is done at home. The sample is then analyzed by a specialized laboratory at the Centre intégré universitaire de santé et de services sociaux (CIUSSS) du Saguenay–Lac-Saint-Jean.
For further details on each of the steps involved in the offer of tests, see the page Steps to follow to get tested.
Eligibility
To be eligible for carrier screening tests, a person must meet all the following criteria:
- They must be 18 years old and older
- They must have at least one biogical grandparent born in one of the following regions:
- Saguenay–Lac-Saint-Jean,
- Charlevoix,
- Haute-Côte-Nord;
- They must be in any one of the following situations:
- they want children
- they are up to 16 weeks’ pregnant or have a partner who has been pregnant for up to 16 weeks.
If you have been pregnant for more than 16 weeks or if your partner has been pregnant for more than 16 weeks, please contact the genetic services in your region.
Both partners must verify if they are eligible for the carrier screening tests. If only one of the two partners meets all these criteria, only this person can get tested. If that person is found to carry one of the screened disorders, the other ineligible partner may also get tested.
If you and your partner meet the eligibility criteria for the offer of carrier screening tests but you are younger than 18 years, please contact the genetic services in your region.
Woman who are 12 to 16 weeks’ pregnant
If you or your partner is from 12 to 16 weeks’ pregnant inclusively, you must get the carrier screening tests done as soon as possible. To speed up the process, both partners can get tested at the same time. You must therefore:
- follow the steps described on the page Steps to follow to get tested
- call the laboratory at the CIUSSS du Saguenay–Lac-Saint-Jean, 1-888-541-1007 for prompt follow-up.
Carrier screening tests are free of charge to eligible people who:
- have a valid Québec health insurance card
- are covered by a specific agreement, such as members of the Canadian Armed Forces.
The tests are free, but the people who get them must pay the postage to mail their sample to the laboratory.
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 out of pocket.
Voluntary participation
The offer of carrier screening tests is intended for single men and women and couples. Getting the carrier screening tests is voluntary. Just one sample is needed to screen for the four disorders. You can choose to get tested for one or more or all four of the genetic disorders under the offer of screening tests. You will receive the result only for the disorder(s) you will have chosen. You are also free to accept or refuse to get tested. If you are undecided, you should give yourself some thinking time, individually or as a couple. You could get tested at a later time if you wish.
If you prefer to receive personalized counselling, please contact the genetic services in your region. If you are worried about your family history of these disorders or other recessive genetic disorders, talk with your doctor. If necessary, your doctor can refer you to an individualized genetic counselling service.
Help and contact information
If you have questions about the offer of carrier screening tests, you can contact the laboratory at the CIUSSS du Saguenay–Lac-Saint-Jean.
CIUSSS du Saguenay–Lac-Saint-Jean
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Monday to Friday
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From 9 a.m. to 4 p.m.
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Centre hospitalier universitaire de Québec (CHUQ) – Pavillon CHUL, Québec
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418-525-4444, Ext. 47130
Centre intégré universitaire de santé et de services sociaux du Saguenay–Lac-Saint-Jean (CIUSSS) – Hôpital de Chicoutimi, Chicoutimi
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418-541-1234, Ext. 3238
Centre universitaire de santé McGill (CUSM) – Hôpital Royal Victoria, Montréal
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Telephone for appointments in prenatal genetics: 514-934-1934, Ext. 35765
Telephone for general medical genetics: 514-412-4427
Centre hospitalier universitaire Sainte-Justine, Montréal
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Telephone for appointments with the prenatal diagnostic centre: 514-345-4931, Ext. 7737
Telephone for general medical genetics: 514-345-4727
Sir Mortimer B. Davis Jewish General Hospital, Montréal
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514-340-8222, Ext. 3428
Centre hospitalier de l’Université de Montréal (CHUM), Montréal
Last update: July 5, 2023
