Detection method: allelic discrimination

This in vitro diagnostic 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 of the CE IVD kit

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 gastrointestinal 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 real-time PCR 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 gb GENETIC HFE 25
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3208-050 gb GENETIC HFE 50
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1 CE IVD real-time PCR kit contains reagents to provide 25 or 50 PCR reactions (20 μl volume of each reaction).

Shiping on dry ice from € 110 (EU)
For other destinations see indicative list.

    About product

    General Terms and Conditions

    Validated for:

    ABI 7500/7500 Fast (ABI)

    ABI 7900HT (ABI)

    AriaMx (Agilent Technologies)

    CFX96/96Touch (Bio-Rad)

    iCycler iQ5 (Bio-Rad)

    Light Cycler 480/Cobas z480 (Roche Diagnostics)

    MIC (BMS)

    QuantStudio 5 (Applied Biosystems)

    RG 3000 (Corbett Research)

    RG 6000/Q (Corbett Research/Qiagen)

    SmartCycler (Cepheid)

    Select further cyclers

    Useful links
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    gb SG PCR Master Mix falls into a group of Real-Time PCR Master Mixes to provide Dye-based qPCR. The product consists of hot-start Taq DNA polymerase, reaction buffer, dNTP, MgCl2, sybrgreen and additives that prevent PCR inhibition. Taq polymerase is chemically modified DNA polymerase from Thermus aquaticus. This polymerase is completely inactive at room temperature but it is rapidly activated during the initial denaturation step of PCR.

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