Steps to follow to get tested

Making use of the offer of carrier screening tests is voluntary.

Find out important information regarding the offer of carrier screening tests and the screened disorders:

• Description of the offer of carrier screening tests: aim of the offer, voluntary participation, advantages and disadvantages

• Transmission of a recessive genetic disorder and the founder effect in the regions of Saguenay–Lac-Saint-Jean, Charlevoix and Haute-Côte-Nord.

• Four disorders covered by the offer of carrier screening tests

• Possible results and their implications

Here are the steps to follow to get tested:​​​​​​

1. Find out if you are eligible for the carrier screening tests by answering a brief eligibility questionnaire.
2. If you are eligible, answer the questions that will help evaluate whether you understand the important information to know about the offer of carrier screening tests. These questions will help ensure that you fully understand the information that you will need to know in order to decide whether or not to get tested. You will gain access to the electronic form “Application for carrier screening tests” only after you have answered all the questions.
3. Make your decision.
   At this stage, you can decide whether or not to get tested. If you decide not to get tested, do not fill out the form. You can restart the process later if you change your mind.
4. If you decide to get tested:

   1. Fill out the online form.

   2. When you have finished doing so, click on the button “Submit my application,” at the end of the form. This form will be directly forwarded online to the laboratory of the Centre intégré universitaire de santé et de services sociaux (CIUSSS) du Saguenay–Lac-Saint-Jean.

   3. Return the kit containing your sample and signed consent form by mail to the address indicated on the return envelope. Make sure to pay the postage required to mail the kit.

      1. a sample collection kit
      2. a consent form
      3. a return envelope

If you or your partner is pregnant and the pregnancy is from 12 to 16 weeks inclusively, you should receive a quick follow-up.

• Indicate that you or your partner is pregnant by checking the appropriate box on your application form. Fill out the form and submit it. You and your partner will each receive a sample collection kit and a consent form.
• Call the laboratory at the CIUSSS du Saguenay–Lac-Saint-Jean, 1-888-541-1007. This will allow you to receive a follow-up more quickly.

Steps to follow upon receiving the sample collection kit

• Take your sample by following the instructions provided with the kit.  You will find the instructions for collecting the sample inside your kit.
• Read, fill out and sign the consent form that you received with the kit.
• Return the kit containing your sample and signed consent form by mail to the address indicated on the return envelope. Make sure to pay the postage required to mail the kit.

The laboratory will mail your test results to you, from 3 to 5 weeks after receiving your sample. If you or your partner is pregnant, you will receive your results more quickly, from 1 to 2 weeks after the laboratory receives your sample.

If you carry a defective gene or if both you and your partner carry the same defective gene, a health professional will contact you by phone.