- 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 for normal alleles of 5, 12, and 36 replicates.
- Expansion detection capacity around 150 repetitions.
- 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.
Detection of CTG expansion in the DMPK gene associated with Myotonic Dystrophy Type 1 (DM1)
3730xl DNA Analyzer (ThermoFisher Scientific)
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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