gb GENETIC HFE

gb GENETIC HFE

Detection method: allelic discrimination

The kit is intended for detection of mutations C282Y, H63D and S65C in the gene HFE in human genomic DNA. Detection is based on real-time polymerase chain reaction (qPCR) using fluorescently labelled probes (allelic discrimination).

Clinical implications

Hereditary hemochromatosis (HHC) is a hereditary metabolic disorder caused by HFE gene mutation with an autosomal recessive type of inheritance and incomplete penetration (which means it does not have to always be shown in a phenotype). It is one of the most common hereditary disorders with an indicated prevalence of the majority C282Y mutation in a homozygous condition in 1:300–400 in the Caucasian population.

HFE protein is bound to beta-2-microglobulin and this complex blocks the transferin receptor in the cells of the duodenum. There is no receptor blockade in the complex consisting of the mutated form of the protein which results in permanent increased iron absorption from the gastroingb testinal tract into the blood stream and its accumulation in parenchymatous tissues and organs, especially in liver, pancreas, heart, gonads and in the skin. These organs can then be irreversibly damaged.

Parameters of the diagnostic kit

  • ready-to-use assay
  • sample concentration 1-100 ng/µl
  • positive and negative controls included
  • FAM and HEX channels detection
  • identical amplification profile as gb HEMO, gb GENETIC, gb PHARM kits
Cat. No. Product No. of reactions Price
3208-025 GENETIC HFE 25
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3208-050 GENETIC HFE 50
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1 kit contains reagents to provide 25 or 50 PCR reactions (20 μl volume of each reaction).

Validated for:

ABI 7500/7500 Fast (ABI)

ABI 7900HT (ABI)

AriaMx (Agilent Technologies)

CFX96/96Touch (Bio-Rad)

iCycler iQ5 (Bio-Rad)

MIC (BMS)

RG 3000 (Corbett Research)

RG 6000/Q (Corbett Research/Qiagen)

SmartCycler (Cepheid)

Select further cyclers

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