Detection method: allelic discrimination
This in vitro diagnostic kit is intended for detection of mutation A149P, A174D, N334K and deletion del4E4 in the ALDOB gene in human genomic DNA. Detection is based on real-time polymerase chain reaction (qPCR) using fluorescently labelled probes (allelic discrimination).
Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by a deficiency of the enzyme aldolase B, which is essential for the metabolism of fructose. One person in 10,000 to 100,000 suffers from HFI. The most common mutations of the gene for aldolase B are A149P, A174D, N334K and deletion of del4E4.
Hereditary fructose intolerance is characterized by clinical symptoms such as vomiting, nausea, diarrhea, growth restriction and metabolic disorders (hypoglykemia, hyperuricemia, hypomagnesemia, or lactic acidosis). HFI may also lead to liver and kidney failure. HFI first appears in infants who are not breastfed, but eat a diet containing sucrose and fructose.
| Cat. No. | Product | No. of reactions | Price |
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| 3252-025 | gb GENETIC FRUCTO | 25 |
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| 3252-050 | gb GENETIC FRUCTO | 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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General Terms and Conditions
Validated for:
ABI 7500/7500 Fast (ABI)
CFX96/96Touch (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)
Dual-labeled hydrolysis probes The technology of dual-labeled hydrolysis probes (also called TaqMan® real-time PCR probes) exploits the 5 ́-3 ́ exonuclease activity of Taq DNA polymerase to cleave the probe. TaqMan real-time PCR probes are labeled with a fluorescent dye (reporter) at the 5´ end and with a quencher at the 3´ end.
Why choose alternative dyes instead of "genuine" dyes? First, they are cheaper, and second, they can give the same results. Another reason is that the number of suppliers who can provide modified oligonucleotides is restricted - only a patent or a licence owner is usually allowed to produce them.
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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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