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HEMOCROMgenes

DNA test to explore hemochromatosis risk
DNA test to explore hemochromatosis risk
HEMOCROMgenes: Hemochromatosis is an inherited disease that affects iron metabolism, causing excessive and improper accumulation of this metal in organs and body systems. Its frequency is very high 1/200 and has no symptoms until hepatic injury.
169,00

Sample type:

Saliva

Delivery period:

30 - 40 days from sample receipt.
Last update of the document Jun, 06/06/2019 - 10:03

Hemochromatosis DNA test

Hereditary human hemochromatosis is a genetic disease, characterized by an overload of iron in the body, which tends to accumulate in certain organs and can damage them causing health problems. It is much more common in men than in women.

Hereditary hemochromatosis is a relatively common disease in Europe, and especially in the North, where about one in ten carries a mutation that causes hemochromatosis.

In spite of this, only a small part of the people with a genotype that causes hemochromatosis ends up manifesting clinical symptoms.

The symptoms are due to an iron overload and in the most severe cases there is a harmful accumulation of iron in the joints, skin, liver, pancreas, heart, duodenum and testicles.

The typical phenotype of a person with organ involvement is known as "bronze diabetes" because of the combination of diabetes, cirrhosis and hyperpigmentation in the skin.

The main gene that causes hemochromatosis is HFE, which is why this type of case is called hemochromatosis associated with HFE. It is an autosomal recessive disease. This means that for the disease development, both copies of the HFE gene must have a non-functional allele.

A person with a pathological genetic (genotype) combination often increases transferrin saturation and ferritin concentration.

The carriers of pathological genotypes can be asymptomatic, only with markers of iron overload altered in blood tests, but without health consequences, or without affecting the organs or having clinical consequences.

You will receive the sample collection kit. You can request additional kits if you need it.

Sample collection kit content:
You will get a box with sample collection kit. Within the kit you will find:

  1. Saliva collector.
  2. Instructions for the sample collection.
  3. Informed consent sheet and application form.
  4. Security bag to enter the sample for shipment.
  5. Envelope bag.

Process to follow:

  1. Follow the instructions for collecting the sample.
  2. After obtaining the sample, include it in the return envelope, remember to put into the informed consent sheet and the application form.
  3. No shipping costs on Spanish territory.
  4. An email confirmation will be sent when your sample si received.
  5. When the study will be completed you will receive a new e-mail to inform you that your report is already available in "My results".

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Profile Information

Hemochromatosis DNA test

Hereditary human hemochromatosis is a genetic disease, characterized by an overload of iron in the body, which tends to accumulate in certain organs and can damage them causing health problems. It is much more common in men than in women.

Hereditary hemochromatosis is a relatively common disease in Europe, and especially in the North, where about one in ten carries a mutation that causes hemochromatosis.

In spite of this, only a small part of the people with a genotype that causes hemochromatosis ends up manifesting clinical symptoms.

The symptoms are due to an iron overload and in the most severe cases there is a harmful accumulation of iron in the joints, skin, liver, pancreas, heart, duodenum and testicles.

The typical phenotype of a person with organ involvement is known as "bronze diabetes" because of the combination of diabetes, cirrhosis and hyperpigmentation in the skin.

The main gene that causes hemochromatosis is HFE, which is why this type of case is called hemochromatosis associated with HFE. It is an autosomal recessive disease. This means that for the disease development, both copies of the HFE gene must have a non-functional allele.

A person with a pathological genetic (genotype) combination often increases transferrin saturation and ferritin concentration.

The carriers of pathological genotypes can be asymptomatic, only with markers of iron overload altered in blood tests, but without health consequences, or without affecting the organs or having clinical consequences.

Sample type and process to follow

You will receive the sample collection kit. You can request additional kits if you need it.

Sample collection kit content:
You will get a box with sample collection kit. Within the kit you will find:

  1. Saliva collector.
  2. Instructions for the sample collection.
  3. Informed consent sheet and application form.
  4. Security bag to enter the sample for shipment.
  5. Envelope bag.

Process to follow:

  1. Follow the instructions for collecting the sample.
  2. After obtaining the sample, include it in the return envelope, remember to put into the informed consent sheet and the application form.
  3. No shipping costs on Spanish territory.
  4. An email confirmation will be sent when your sample si received.
  5. When the study will be completed you will receive a new e-mail to inform you that your report is already available in "My results".

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