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Next Generation Sequencing Platforms  

Sep 11, 2009: GENDIA now offers a next-generation sequencing  platform for the molecular diagnosis of Autosomal Recessive and Sporadic Retinitis Pigmentosa with complete sequencing of the following 7 genes:

  • USH2A (Usherin)
  • EYS (Eyes Shut Homolog)
  • ABCA4 (ATP-binding cassette, subfamily A, member 4)
  • CRB1 (Crumbs homologue 1)
  • PDE6A (Phosphodiesterase 6A, cGMP-specific, rod alpha subunit)
  • PDE6B (Phosphodiesterase 6B, cGMP-specific, rod beta subunit)
  • RPE65 (Retinal pigment epithelium-specific protein, 65-kd)

Mutations in the 7 genes analyzed in this panel have been reported in approximately 31%-55% of patients diagnosed with autosomal recessive retinitis pigmentosa.
The price for the analysis of the 7 genes in a single sample is 2800 Euro.


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