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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