Hemachromatosis
Analysis ID 12
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 2 most common mutations C282Y and H63D (comprising 80-90% of all HFE mutations).
Analysis indication
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders