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Detection of hereditary hemochromatosis mutations in the HFE gene

Detection of hereditary hemochromatosis mutations in the HFE gene

  • Test results available after approximately 4 hours
  • Control bands on each test strip confirm correct DNA isolation, amplification, and hybridization
  • Suitable for automated systems
  • Evaluation and documentation via the AID scanner and software
  • CE IVD

Hereditary hemochromatosis is a genetic disorder characterized by increased intestinal iron absorption and is inherited as an autosomal recessive trait. Mutations in the HFE gene impair the interaction between the HFE protein and the transferrin receptor, thereby disrupting iron regulation and leading to iron overload.

Detection of risk-associated mutations is recommended in affected families. Early diagnosis and appropriate therapy can help prevent organ damage and protect health.

The AID Hereditary Hemochromatosis Kit enables detection of the C282Y and H63D mutations in the HFE gene.

Characteristics

  • Detection of the C282Y and H63D mutations in the HFE gene
  • Distinction between heterozygous and homozygous carriers
  • Reverse hybridisation kit (LineProbe Assay) with upstream PCR
  • Sample material: human DNA from buccal swab, citrate- or EDTA-anticoagulated blood, biopsy material
  • Article No. RDB 2045
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