Genetic testing that can confirm a diagnosis of the disease or detect a risk mutation in healthy individuals, which puts their offspring at increased risk of developing haemochromatosis. Haemochromatosis is a hereditary disease characterised by excessive absorption of iron from the digestive tract and its deposition in various organs, especially the liver, pancreas, heart, pituitary gland, joints, skin and genital organs, leading to severe and irreversible damage over time.
The disease is caused by mutations in the HFE gene, which is essential for maintaining adequate iron stores in the body. The first symptoms usually appear in adulthood, usually between the ages of 40 and 60, and are up to 10 times more common in men, as women regularly lose iron during their menstrual cycle. Symptoms of the disease are rather non-specific and include weakness, fatigue, apathy, abdominal, muscle and joint pain, heart problems, loss of libido, breathing difficulties, increased skin pigmentation, hair loss, etc. The analysis is carried out on a sample of blood taken or a swab from the oral cavity.
The standard examination tests for the two most common mutations of the HFE gene, which are the usual causes of the disease.
Gene specification: HFE gene (mutation C282Y, H63D)
The PLUS test analyses not only the most common mutations but also the rarer mutations of the HFE gene, TFR2 and FPN1, which are less frequently responsible for the disease.
Gene specification: HFE gene (C282Y, H63D, V53M, V59M, H63H, S65C, Q172H, P160delC, E168Q, E168X, W169X, Q283P), TFR2 gene (E60X, M172K, Y250X, AVAQ594-597del), FPN1 gene (N144H, V162del)
You will receive the result within 10 working days.