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  6. Carrier screening for autosomal recessive hereditary diseases in people from the Saguenay–Lac-Saint-Jean, Charlevoix and Haute-Côte-Nord regions  
  7. Step 1: Learn about carrier screening

Recessive hereditary diseases

Step 1: Learn about carrier screening

People who have already had carrier screening for four autosomal recessive hereditary diseases and who want to know their carrier status for mucolipidosis type 2 and/or Zellweger spectrum disorder can contact the CIUSSS du Saguenay–Lac-Saint-Jean by calling 1-888-541-1007. An employee will check their eligibility and provide follow up.

It is suggested that you learn about autosomal recessive hereditary diseases and carrier screening for these diseases before making a decision. Doing carrier screening is a personal choice. Your participation is voluntary.

To find out more, go to the pages:

Step 2: Check if you are eligible

Last update: July 28, 2025