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Test for the genotyping of point mutations associated with hemochromatosis

HemochromaStrip kit is a test based on the reverse hybridization principle and allows for the identification of three punctual genetic variants of the HFE gene, associated with hemochromatosis.

Hereditary Hemochromatosis is a genetic disease characterized by excessive iron absorption at the intestinal crypt level. This is due to an altered iron metabolism, which causes a progressive iron accumulation in different organs (heart, liver, joints, skin, or pancreas), leading to the development of diverse pathologies (cirrhosis, cardiopathy, diabetes mellitus, and other irreversible damages).

HemochromaStrip kit allows the identification of three genetic variants of the HFE gene: mutation C282Y, directly associated with hemochromatosis; and mutations H63D and S65C, the last one in combination with C282Y(N/M) and S65C(N/M) also indicates disease presence.

Those patients considered as carriers have one of the mutated copies (phenotype M) in any of the genes.

mutaciones relevantes

Detection of the most relevant mutations

distincion homocigosis heterocigosis 1

Distinction of homozygosis and heterozygosis

lectura mediante scanner

Automated reading with scanner available

automatiza proceso hibridacion

Possibility to automate the hybridization process

Our products for the genotyping of point mutations associated with hemochromatosis

Product
Technique
Sample
Promotional Sheet
CE Decl.
Instruct.
Catalogue No.
HemochromaStrip
Hybridization on Strip
DNA extracted from blood, saliva or tissues
3.130.016.53.000

The detection of the most widely recognized and agreed mutations worldwide allows for better patient management.

The possibility of detecting mutations in homozygosis or heterozygosis facilitates the treatment and management of the patient. In addition, it also allows family studies of this genetic condition.

The interpretation of the test is very simple, as it is performed visually with the help of a control strip template. In addition, a scanner with a specific program designed for the product can be used to facilitate reading and storing the results.

The hybridization process can be performed manually or using an automated system, so that the user only has to set up the reagents and strips, and remove the developed strips once the process is finished. This reduces the time that the user has to dedicate to the process.

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    Frequently Asked Questions

    For the PCR amplification step: thermocycler (PTC-100 (MJ Research), MJ Mini Gradient Thermal Cycler (BioRad), Mastercycler Personal (Eppendorf), S1000 Thermal Cycler (BioRad)). For the hybridization step: thermoshaker (Manual protocol: PST-60HL (Biosan S.L.) → 16 samples. Automated protocol: Profiblot T30 (Tecan) → 30 samples. Profiblot T48 (Tecan) → 48 samples. Autoblot 3000H (medTEC) → 20 samples. TENDIGO (Fujirebio) → 10 samples. DynaHeat (Dynex) → 30 samples. For the results interpretation step: control strip template or reader: BloTrix R2 (BioSciTEc) → 16 samples. BloTrix S1 → 48 samples.

    For the PCR amplification step: any thermocycler can be used, as long as the reaction volume is 50 µl. For the hybridization step: any thermocycler can be used, but a perfect temperature control must be ensured, as this step is critic. For the results interpretation step: no device is needed, it is only an aid. If needed, only Blotrix devices can be used, as no other devices are validated.

    All kits with reference for 16 strips include the trays inside the box. Those kits with reference for 48 strips are sold without trays inside the box. The reason is that those kits are designed for being used in automatic devices that already have their own trays. However, as some customers require some trays for manual devices, they are provided FOC outside the box. The reference for a two white trays package (8 channels in each tray) is 3.950.002.69.999. For each 48 strips kit, three packages of the mentioned reference will be needed.