Detection of the c.1298A>C polymorphism in the MTHFR gene associated with defects in the development of the nervous system

48 rxn

Real-time PCR


7500 FAST Real-Time PCR System (ThermoFisher), StepOnePlus Real-Time PCR System (ThermoFisher), StepOne Real-Time PCR System (Thermo Fisher)

  • Assay that allows determining the presence of the pathogenic allele traditionally called c.1298A>C (NM_005957.4) and the normal allele of the MTHFR gene in a single PCR reaction.
  • It includes a positive control that simulates a heterozygous genotype, which guarantees the functionality of the PCR system and which helps the interpretation in the qualitative analysis.
  • Validated using the same real-time PCR program as the products related to alterations in the coagulation process, so they can be analyzed together.
  • It complies with the quality requirements specified by ISO 13845 and ISO 14001 in relation to the materials used in its manufacturing process.
  • For in vitro diagnostic use.

Real-time PCR uses a system of sequence-specific oligonucleotides and fluorescent hydrolysis probes that allow specific targets of interest to be discriminated.

  • Amount of DNA needed: 50 ng total
  • Sample type: Peripheral blood (Germinal)
  • Number of reactions per sample: 1
  • Number of targets: 2
  • Manual working time: 30 min
  • Duration of the PCR program: 1h 15 min
  • Compatible cyclers: Real-time PCR cycler with FAMTM and VIC® channels


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