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This new test looks at a patient's risk for a total of 10 diseases including: Parkinson's disease, late-onset Alzheimer's disease, Celiac disease, Gaucher disease type 1, and hereditary thrombophilia and Factor XI deficiency (both blood clotting disorders).
The presence or absence of some of these variants is associated with an increased risk for developing any one of the following 10 diseases or conditions: Parkinson's disease, late-onset Alzheimer's disease; celiac disease, alpha-1 antitrypsin deficiency; early-onset primary dystonia; factor XI deficiency; Gaucher disease type 1; glucose-6-phosphate dehydrogenase deficiency; hereditary hemochromatosis; and hereditary thrombophilia.
The other diseases covered by the tests are celiac disease, alpha-1 antitrypsin deficiency, early onset primary dystonia, Factor XI deficiency, Gaucher disease type 1, glucose-6-Phosphate Dehydrogenase deficiency (also known as G6PD), hereditary hemochromatosis, and hereditary thrombophilia.
Phenotypic and genotypic heterogeneity in Gaucher disease type 1: A comparison between Brazil and the rest of the world.
ET with imiglucerase has become the standard of care for treatment of significantly symptomatic Gaucher disease type 1.10,11 Eliglustat (Cerdelga) is a new oral oral glucosylceramide synthase inhibitor indicated for the long-term treatment of adult patients with Gaucher disease type 112, It is not affordable in Iraq under the financial hardship.