Hemochromatosis – the most common mutations in HFE, TFR2 and FPN1 genes
Analysis ID 271
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Hemochromatosis – the most common mutations in HFE, TFR2 and FPN1 genes
OMIM #235200
Clinical information Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism, with an excessive accumulation of iron. Iron is being deposited in the variety of organs leading to their failure, and results in serious complications including liver cirrhosis, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually appear after a couple of decades of iron accumulation. Removal of iron excess can be achieved by drugs as well as therapeutic phlebotomy. Classical hemochromatosis is caused by mutations in the HFE gene (chromosome 6p21.3). Juvenile forms of the disease are caused by mutations in the TFR2 and FPN1 genes.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes HFE; ; TFR2; FPN1
Analysis description Testing of the 12 most common mutations in the HFE gene, 4 most common mutations in the TFR2 gene, and 2 most common mutations in the FPN1 gene
Analysis indication Symptoms of hemochromatosis
Analysis time Appointed individually
Refund No
CGM laboratory name Laboratory for diagnostics of the hereditary disorders