Centogene participating at the ESHG 2013 in Paris :: updated requisition form available
Dear ###USER_title1### ###USER_last_name###,
Centogene now offers testing for hot spots and most frequent mutations in more than 200 genes. This offer is just the introducing of the new, customer-devoted diagnostic strategy of Centogene that is designed to further improve turn around time as well as reduce costs. The first stage includes testing of up to 5 hot spots and/or most frequent mutations for different genes, with a turn around time of only 7 working days. This data is mostly based on Centogene`s large mutation databank coming from more than 10,000 samples being analyzed each year. About 30% of genetically inherited conditions are caused by a few mutations in a single gene (hot spots). Thus, the analysis of the most common mutations as a first diagnostic level has a significant impact on time and cost reductions in the overall gene testing.
To find out more about our tests offered for hot spot testing, please see our updated requisition form.
Discovery of new gene related to cataract and Alzheimer's disease
Congenital cataracts are one of the most treatable causes of visual impairment and blindness during infancy. Approximately 50% of all congenital cataract cases may have a genetic cause. Research on hereditary congenital cataract led to the identification of several classes of candidate genes that encode proteins such crystallins, lens specific connexins, aquaporines, cytoskeletal structural proteins, and developmental regulators.
Centogene offers single gene tests for a majority of known congenital-cataract related genes, as well as a multigene cataract panel for 12 genes (CRYAA, CRYAB, CRYBB1, CRYBB3, FYCO1, GCNT2, GJA8, HSF4, LIM2, SIL1, TDRD7, AGK, CDP1 and TMEM70).
Recently, a new gene (δ-catenin gene) related to cataract is reported in PLoS One scientific journal; moreover, this gene is associated with Alzheimer's disease. Centogene is already in process of establishing δ-catenin gene tests. Furthermore, this study gives hope that we are moving towards earlier diagnosis and new treatment targets for not only cataract, but Alzheimer's disease as well.
- Jun G, Moncaster JA, Koutras C, et al. δ-Catenin is genetically and biologically associated with cortical cataract and future Alzheimer-related structural and functional brain changes. PLoS One. 2012;7(9):e43728.
- Jianjun C, Zhiwei M, Xiaodong J et al. Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts. The American Journal of Human Genetics, 02 June 2011
- Hejtmancik JF, Congenital Cataracts and their Molecular Genetics. Semin Cell Dev Biol. 2008 April; 19(2): 134–149.
- Atay Z, Bereket A, Turan S, Haliloglu B, Memisoglu A, Khayat M, Shalev SA, Spiegel R.Gene. 2013 Feb 15;515(1):197-9. doi: 10.1016/j.gene.2012.11.044. Epub 2012 Dec
If you have any questions or comments, please do not hesitate to contact us.
Senior Director Strategic Communication