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:
Last update: July 28, 2025