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Detection of salivary gland and sinonasal fusions by a next-generation sequencing based, ligation-dependent, multiplex RT-PCR assay.

Marie-Delphine LanicRené GuérinMichel WassefPauline DurdillyVinciane RainvilleVincent SaterFabrice JardinPhilippe RuminyValérie Costes-MartineauMarick Lae
Published in: Histopathology (2023)
This targeted multiplexed NGS-based LD-RT-PCR method is a robust, highly sensitive method for the detection of recurrent gene fusions from routine clinical SGSN tumours. It can be easily customized to cover new fusions. These results are promising for implementing an integrated NGS system to rapidly detect genetic aberrations, facilitating accurate, genomics-based diagnoses, and accelerate time to precision therapies in SGSN tumours.
Keyphrases
  • real time pcr
  • copy number
  • genome wide
  • single cell
  • high throughput
  • label free
  • loop mediated isothermal amplification
  • high resolution
  • transcription factor
  • fluorescent probe
  • genome wide identification
  • cell free