Detection of CTG expansion in the DMPK gene associated with Myotonic Dystrophy Type 1 (DM1)

12 rxn

Fragment Analysis


3730xl DNA Analyzer (ThermoFisher Scientific)

  • Semi-quantitative analysis that generally allows determining the number of repetitions of the CTG expansion of the DMPK gene by means of PCR.
  • Amplification range of 100-500 bp.
  • Includes TP-PCR systems to detect described expansions leading to amplicon sizes >500 bp.
  • Includes a positive control with a normal allele of 12 repeats and a mutated allele of approximately 75 repeats at an optimal amplification concentration.
  • Expansion detection capacity around 150 repetitions.
  • For in vitro diagnostic use.

Imegen-DM1 allows the analysis of CTG triplet expansions in the DMPK gene associated with Myotonic Dystrophy Type 1 (DM1) by means of conventional PCR and capillary electrophoresis. In addition, the kit offers a TP-PCR (triple repeat primed PCR) system to detect expansions in DM1 that are not detectable with conventional PCR.

  • Amount of DNA needed: 500 ng total
  • Sample type: Peripheral blood (Germinal)
  • Number of reactions per sample: 2 (1 PCR and 1 TP-PCR)
  • Number of targets: 1
  • Manual work time: 45 minutes
  • Duration of the PCR/TP-PCR program: 2 h 15 min
  • Compatible thermal cyclers: Any conventional thermal cycler
  • Sequencing with polymers compatible with the label 6-Carboxyfluorescein (6-FAM)


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