The National Institute of Excellence in Health and Social Services has recommended the addition of type II mucolipidosis and Zellweger syndrome to the carrier test offering for recessive hereditary diseases for people from Charlevoix, Saguenay-Lac-Saint-Jean and the Haute-Côte-Nord.
This is an important step in the efforts to expand the carrier testing offering at the Integrated University Health and Social Services Centre (CIUSSS) of Saguenay–Lac-Saint-Jean.
The organization is now awaiting authorization from the Ministry of Health and Social Services to proceed with the implementation and addition of the two new diseases to the Carrier Test Offer portal on its site, it is indicated in a press release.
The CIUSSS du Saguenay–Lac-Saint-Jean and its molecular biology and genetics department are
ready to deploy these two new tests to their offer. Screening tests are currently offered to people who have a family history with one of these two diseases.
Zellweger syndrome is a disorder of peroxisome biogenesis that is inherited in an autosomal recessive manner. Patients with the most severe form of the disease will present with a variety of clinical manifestations, including neurological, hepatic, and renal involvement, as well as global developmental delays and cardiac dysfunction.
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