Detection of expansions associated with spinocerebellar ataxias and other cerebellar ataxias (SCA1, SCA2, SCA3, SCA6, SCA7, SCA12, SCA17 and DRPLA) related to neurodegenerative diseases

12 x 8 rxn

Fragment Analysis


3730xl DNA Analyzer (ThermoFisher Scientific)

  • Semi-quantitative analysis.
  • Amplification range of 100-500 bp.
  • Includes TP-PCR systems to detect described expansions leading to amplicon sizes >500 bp.
  • Includes a positive control at the optimal amplification concentration, in which normal alleles are present for all assays performed with the kit, to demonstrate the functionality of the prepared amplification reactions.
  • Designed and validated with the same PCR program as related products for the analysis of expansions involved in other neurodegenerative diseases, 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.

Imegen-SCAs allows the analysis of CAG or CAG/CAA triplet expansions associated with cerebellar ataxias by means of conventional PCR and capillary electrophoresis. In addition, the kit offers a TP-PCR (triple repeat primed PCR) system to detect expansions of SCA2 and SCA7 not detectable with conventional PCR.

  • Amount of DNA needed: 50 ng for each amplification system
  • Sample type: Peripheral blood (Germinal)
  • Number of reactions per sample: 10 (8 PCR and 2 TP-PCR)
  • Number of targets: 8 (SCA1, SCA2, SCA3, SCA6, SCA7, SCA12, SCA17 and DRPLA)
  • Manual work time: 45 minutes
  • Duration of the PCR/TP-PCR program: 2 h 30 min
  • Compatible thermal cyclers: Any conventional thermal cycler
  • Sequencing with polymers compatible with the label 6-Carboxyfluorescein (6-FAM).


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