The Division also provides mutation analysis for the following diseases: Cystic Fribrosis, alpha-thalassemia and beta-thalassemia, Tay-Sachs disease, MTHFR (methylene Tetrahydrofolate Reductase Deficiency), connexin 26 & 30, Canavan disease, and familial dysautonomia. Carrier screening for Gaucher, Bloom, Fanconi Anemia, Niemann-Pick and MLD IV is currently being set up.
Outpatient clinics include a Medical Genetics Clinic, a Metabolic Disorders Clinic, a Prenatal Genetics Clinic, a Neurofibromatosis Clinic, a Genodermatosis clinic and a Lipid Clinic.
The Biochemical Genetics, Cytogenetics and Molecular Genetics Units perform various highly specialized diagnostic laboratory tests.
For patients with hereditary metabolic conditions, special dietary products can be ordered through the Quebec Alimentary Program for the Treatment of Hereditary Metabolic Disorders.