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).
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.
| 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 CE IVD real-time PCR kit contains reagents to provide 25 or 50 PCR reactions (20 μl volume of each reaction).
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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)
RG 3000 (Corbett Research)
RG 6000/Q (Corbett Research/Qiagen)
SmartCycler (Cepheid)
gb OneStep RT-qPCR Kit gb OneStep RT-qPCR Kit falls into a group of TaqMan Real-Time PCR Master Mixes. It provides cDNA synthesis in one-step. The product is intended for reverse transcription (RT) and real-time PCR (qPCR) performed in one step (in one reaction), i.e. onestep RT-qPCR. No additional instrumentation is required.
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Dispatch date
Products are dispatched within 10 business days upon receiving the order
Shipping
On ice/dry ice
Recommended storage
Storage at -20 °C
Expiry date
Product remains stable until expiry date stated on the product label (min. 6 months after delivery)
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