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Next Generation Sequencing Platforms  

Oct 24, 2009: GENDIA now offers a next-generation sequencing  platform for the molecular diagnosis of Usher Syndrome with complete sequencing of all 9 Usher genes:

USHER TYPE 1

  • MYO7A encoding Myosin 7A for Usher syndrome type 1A/B (USH1A/B)
  • USH1C encoding Harmonin for Usher syndrome type 1C (USH1C)
  • CDH23  encoding Cadherin23 for Usher syndrome type 1D (USH1D)
  • PCDH15 encoding Protocadherin15 for Usher syndrome type 1F (USH1F)
  • USH1G encoding Usher syndrome type-1G protein for Usher syndrome type 1G (USH1G)

USHER TYPE 2

  • USH2A encoding Usherin for Usher syndrome type 2A (USH2A)
  • GPR98 (exons 8, 20, 31-41 & 89) encoding  the G-protein-coupled 7-transmem-brane receptor  for for Usher syndrome type 2C (USH2C)
  • WHRN encoding Whirlin for Usher syndrome type 2D (USH2D)

USHER TYPE 3

  • CLRN1 encoding Clarin 1 for Usher syndrome type 3A (USH3A)
This platform also offers a molecular diagnosis of Non-Syndromic Deafness with sequencing of the following 10 genes:
  • GJB6
  • MYO6
  • OTOF
  • SLC26A4 (PDS)
  • TMC1
  • TMIE
  • TMPRSS3
  • TMC1
  • MTTS (tRNAser(UCN))
  • MTRNR1 (6 mutations in 12S rRNA)
The price for the analysis of the 19 genes in a single sample is 2800 Euro.
Once a disease-causing mutation is identified, family members can be screened for that mutation at 250 Euro.
The turnaround time of the test is 3 months.

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