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gb GENETIC FRUCTO

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).

Clinical implications of the CE IVD kit

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.

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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Cat. No.	Product	No. of reactions	Price

3252-025

gb GENETIC FRUCTO

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3252-050

gb GENETIC FRUCTO

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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.

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About product

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)

Select further cyclers

Useful links

gb SG PCR Master Mix

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.

Alternative dyes for oligonucleotides/probes labeling

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.