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Hemochromatosis Panel

Hemochromatosis Panel

Regular price €49.00 EUR
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Hemochromatosis is a chronic alteration of iron metabolism which, if left untreated (or in advanced stages), can lead to serious organ damage (especially liver and pancreas). There are different types, all determined by mutations in specific genes involved at various levels in iron homeostasis. The most common type of hemochromatosis (HH - Hereditary Hemochromatosis or type 1) is related to the HFE gene and is transmitted in an autosomal recessive manner.
The mutation alters the sensitivity of a specific protein to dietary iron, causing excessive intestinal absorption.
The second type of hemochromatosis (juvenile) differs in the 2A and 2B forms, respectively linked to mutations in the HJV genes (which codes for hemojuvelin, involved in iron absorption but with roles not yet fully known) and HAMP (hepcidin, a protein that regulates iron levels as needed). Also transmitted in an autosomal recessive manner, this form is quite rare and occurs in adolescence. On the other hand, type 3 hemochromatosis is associated with mutations in the transferrin receptor (TFR2), which regulates the saturation level of an iron-binding protein called transferrin.
Type 4 is related to autosomal dominant mutations in the SLC40A1 gene, encoding ferroportin (responsible for transporting iron out of cells).
Finally, type 5 hemochromatosis is caused by the FTH1 gene which codes for a subunit of ferritin (the intracellular iron storage protein).
Other genes implicated in various pathways of iron metabolism are still being studied and their role as contributors to the onset of hemochromatosis is gaining increasing acceptance.

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  • 1.

    Using a simple at home blood sample, we can collect the 100% of your DNA and analyze the genetic sequence in our lab.

  • 2.

    The sequence is divided into several parts, amplified, grouped in clusters and then sequenced.

  • 3.

    This sequencing process reveals the order of nucleotides that make up the original DNA sample.

  • 4.

    We then compare the genome with a generic and globally recognized reference DNA sequence.

Simple Blood Sample Collection

Painless, quick at home sample collection. User friendly device with CE-IVD mark and FDA approval.

Simply follow the packaging instructions and send the sample back using the pre-paid returns label.

Genomic Consultation Service

Additional reports

Check out the full range of our additional reports, available upon completion of the Genome Test.

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