Test on genetic predisposition for hemochromatosis (5 HFE gene mutations)

Diagnosis of genetic predisposition to hemochromatosis

Hemochromatosis is one of the most common disease entities with a genetic predisposition. It is a metabolic disorder that causes increased absorption of iron from supplied food. Iron accumulation occurs mainly in the liver, heart, pancreas, joints, sex organs and endocrine glands.

What do you gain by performing this test?

The test makes it possible to determine mutations within the gene that determines the carrier or onset of the disease. Hemochromatosis is difficult to diagnose due to its latent and long-term development. Early diagnosis makes it possible to take appropriate steps to prevent its development. Detection of predisposition gives the chance to treat it with relatively simple and long-known methods. If this is the case, the disease does not shorten patients' lives.

Full name of the study: Diagnosis of genetic predisposition to hemochromatosis in the HFE gene: C282Y/p.Cys282Tyr, H63D/p.His63Asp, S65C/p.Ser65Cys, E168X/p.Glu168X, Q283P/p.Gln283Pro.

Where to download:

Mouth swab. You can take the sample yourself. Date of test from receipt of material: up to 14 working days.

In the kit you receive:

• The kit necessary for the collection of material;
• Instruction for material collection;
• Material collection protocol for the laboratory;
• Free return shipping;

  Hemochromatosis is one of the most common genetic disease entities. It is a metabolic disease that causes increased absorption of iron from the provided food. Iron accumulation occurs mainly in the liver, heart, pancreas, joints, sex organs and endocrine glands.

  What do you gain by performing this test?

  The test makes it possible to determine mutations within the gene that determines the carrier or onset of the disease. Hemochromatosis is difficult to diagnose due to its latent and long-term development. Early diagnosis makes it possible to take appropriate steps to prevent its development. Detection of predisposition gives the chance of treatment with relatively simple and long known methods. If this is the case, the disease does not shorten patients' lives.

  Invitations to take the test:

  • clinical suspicion of hemochromatosis,
  • patients affected by chronic liver disease, cardiomyopathy or atypical arthritis,
  • persons suffering from early-onset impotence,
  • women with menstrual disorders, premature menopause,
  • determination of family genetic burden,
  • persons complaining of joint pain and fatigue,

  What can I do if the test detects mutations in the gene?

  First of all, you should consult your doctor, who will determine exactly what such a result means and order appropriate tests or medication. The most important thing is to undergo regular preventive examinations, mainly aimed at early detection of changes. It is also necessary to examine your closest relatives to protect them from a dangerous disease.

  The most important prognostic determinant in people affected by hemochromatosis is the development of cirrhosis.