Hemachromatosis
Analysis ID 13
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Hemachromatosis
OMIM +235200
Clinical information Autosomal recessive, genetic metabolic disease resulting from excessive absorption of iron. The disease is caused by overloading with iron and may lead to heart, liver, pancreas, testicles, and joints damage (due to formation of hemosiderin deposits in the affected organs). Symptoms rarely occur before 20 year of age. Onset of the disease is usually between 40-60 years and starts with constant fatigue, joint aching, gastrointestinal symptoms, liver enlargement, and heart arrhythmias. Some people may show a characteristic brown-grey skin.
Type of analysis Molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes HFE;
Analysis description Analysis of the HFE gene, and presence of 3 less common mutations: S65C, Q283P, E168X (comprising 10% of the HFE cases)
Analysis indication Clinical suspicion of hemochromatosis, especially once the two most common mutations (C282Y and H63D) were excluded.
Analysis time 3-4 weeks
Refund No
CGM laboratory name Laboratory for diagnostics of the hereditary disorders