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Human Genetics

HEMATHOLOGY

RDB2045 Hereditary Hemochromatosis

Hereditary Hemochromatosis is a genetic disorder of intestinal absorption of iron and is inherited as an autosomal recessive trait.
Mutation in the HFE gene are causing a defective interaction of the HFE protein with transferrin receptor with negative impact on iron absorption.

Detection of the risk specific mutations is recommended for affected families. Early diagnosis and therapy can avoid damage and protect health.

AID HFE Kit enables detection of mutation C282Y and H63D in HFE gene.

 

 

 

Characteristics

  • Detection of mutations C282Y and H63D in HFE gene
  • Differentiation between homozygous and heterozygous genotype
  • PCR with subsequent lineprobe assay
  • Specimen: human DNA isolated from buccal swab, Citrate- or EDTA-blood or biopsy
  • Control bands on every strip show correct DNA isolation, amplification and hybridization
  • Results within 4 hours
  • Suited for automated systems
  • Evaluation and documentation with AID Scanning system

 

Reader Systems

AID Scanner