
TessArae will be in attendance at the 60th Annual Meeting of the American Society of Human Genetics meeting in Washington, DC on November 2-6, 2010. If you would like to speak to us, please contact us at: http://www.tessarae.com/contact.html.
The TessArae Resequencing Diagnostic Microarray technology will also be discussed in a poster by Galil Genetic Analysis (GGA):
518/T A Novel resequencing Diagnostic Microarray: RDMGGA1.0 chip, customized to diagnose mutations in patients with Breast, Ovarian, Colon, Skin and Multiple Cancers. D. Bercovich1, y. Plotsky2, T. Guy2, S. Allon- Shalev3, AM. Lichanska4, LA. Borsuk4, C. Tibbetts4. 1) Human Genetic Lab, Tel Hai Academic College, Israel; 2) Galil Genetic Analysais (GGA), Kazarin 12900, Israel; 3) The Institute for Genetics, Ha’Emek Medical Center, Afula 18101, Israel; 4) TessArae, Potomac Falls, VA 20165 USA.
Despite the remarkable progress in identifying the genes causing the most common inherited cancers, current diagnostic algorithms do not incorporate all genes and known mutation analysis in the clinical evaluation of affected patients and relatives. In addition, the large genes size and the lack of highly predominant mutational hotspots for most populations frequently make mutation detection in these cancer genes outstandingly challenging, which is costly and time consuming. The interpretation is even more complex as a result of poor studies of gene-gene interactions and genotype-phenotype relationships. To fulfill this technological gap, we developed a new custo- mized resequencing gene chip (RDMGGA1.0) that is focused on 11 genes: BRCA1, BRCA2, APC, MUTYH, MLH1, MSH2, MSH6, TP53, PTEN, P16 and KRAS simultaneously, in a single assay, with high call rate and accuracy. probes were designed to identify each base for all exons, 20 bases of intronic sequence bordering exons in the main tiles, and 3320 most frequent mutations were subtiled. The array uses the Affymetrix resequencing plat- form. Novel software was developed by TessArae for the data analysis. Amplicons were hybridized to the chip, and nucleotide detection was vali- dated by standard capillary sequencing methods. Hybridization of amplicons with the chip produced high nucleotide sequence readout for all 11 genes in a single assay, with an automated call rate of over 98%. The accuracy of nucleotide calls was 99.99% when compared with capillary sequencing. The new resequencing chip enables efficient analysis of 11 genes with a high call rate and accuracy in one assay, and identifies disease-causing mutations.