Genesis Centrum Genetyki Medycznej - GENESIS Center for Medical Genetics

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