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Attention! We also offer whole HFE gene sequencing
If there wasn't detected 2 most common mutations or detected only one of the most common mutations in the haemochromatosis DNA test, it is recommended sequencing of the whole HFE gene coding part. The price for whole HFE gene sequencing is 420€.
What is hereditary haemochromatosis?
Hereditary haemochromatosis (HH) is an inherited disease, whereby the patients experience abnormal iron metabolism processes. Symptoms respond well to treatment if the disease is correctly diagnosed in time. If the disease is not treated, it can result in severe damage to various organs.
The human body absorbs the required amount of iron from diet, and if the level of iron is sufficient, there are self-regulation mechanisms to limit any further absorption of the iron. Meanwhile, HH causes the body to accumulate excess iron because these regulatory mechanisms are disrupted.
Over time, excess iron accretes in the cells of the liver, heart, pancreas, joints, and other cells, which can lead to serious damage to these organs. For example, liver cirrhosis, liver cancer, diabetes, heart disease etc.
Molecular diagnostics of the HFE gene help to detect up to 90% of cases. This method does not answer the symptomatic questions — whether and how much excess iron has accumulated, as well as the severity of possible tissue damage.
The main goal of the test is to detect the disease, in order to begin timely treatment and avoid severe joint, liver, heart, and other organ damage.
The HFE gene, which is responsible for the possibility of inherited HH, was discovered in 1996. The most common cause of HH are two mutations in the HFE gene. If a child inherits both copies of the damaged gene from the parents, it is certain that HH will develop during the child’s lifetime. However, people who inherit only one altered copy of the gene (carriers) do not get HH themselves, but can pass this damaged copy of the gene on to their children. If both the parents are only carriers of HH, there is a 25% chance that their children will receive both copies of the altered gene and, accordingly, more likely develop HH during their lifetime. In different populations, the average incidence of HH is 0.3%.
Haemochromatosis is one of the genetic diseases that can be treated easily and effectively. Iron levels are kept normal with a painless and relatively inexpensive procedure: regular bloodletting. Initially, patients need it more often until normal blood iron levels are reached. Long-term, given medical supervision, blood removal procedures are prescribed only when necessary to maintain normal iron levels.
With a doctor’s referral (for a complete list, see the “Prices”) section) medical DNA tests (except for the prenatal NIPT “Panorama” test for pregnant women) are paid for by the NHS. Important! The NHS only pays for the test if the referral is issued as part of an NHS-paid visit, and the doctor has a contract with the NHS. Referrals issued during a paid visit will not be valid. Quotas are available.
The sample for DNA testing can be submitted at any branch of our partner - Centrālajā laboratorijā.
You can also order all offered DNA tests at full price. Remote contactless testing is available for both paid and NHS-referred tests. All medical DNA tests can be performed remotely, except for tests on pregnant women, where a blood sample must be collected.