Úvod Produkty gb GENETIC HFE

gb GENETIC HFE

Detekční metoda: 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

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Kat. číslo	Produkt	No. of reactions	Cena

3208-025

gb GENETIC HFE

Do poptávky
Do poptávky

3208-050

gb GENETIC HFE

Do poptávky
Do poptávky

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 € 115 (EU)
For other destinations see indicative list.

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O produktu

Všeobecné obchodní podmínky

Validováno pro:

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)

Zadat další cykléry

Užitečné odkazy

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