Development of a Genomic DNA Reference Material Panel for Rett Syndrome (MECP2-Related Disorders) Genetic Testing

Publication date: March 2014 Source:The Journal of Molecular Diagnostics, Volume 16, Issue 2 Author(s): Lisa V. Kalman , Jack C. Tarleton , Alan K. Percy , Swaroop Aradhya , Sherri Bale , Shannon D. Barker , Pinar Bayrak-Toydemir , Christina Bridges , Arlene M. Buller-Burckle , Soma Das , Ramaswamy K. Iyer , Timothy D. Vo , Val V. Zvereff , Lorraine H. Toji Rett syndrome is a dominant X-linked disorder caused by point mutations (approximately 80%) or by deletions or insertions (approximately 15% to 18%) in the MECP2 gene. It is most common in females but lethal in males, with a distinctly different phenotype. Rett syndrome patients have severe neurological and behavioral problems. Clinical genetic testing laboratories commonly use characterized genomic DNA reference materials to assure the quality of the testing process; however, none are commercially available for MECP2 genetic testing. The Centers for Disease Control and Prevention’s Genetic Testing Reference Material Coordination Program, in collaboration with the genetic testing community and the Coriell Cell Repositories, established 27 new cell lines and characterized the MECP2 mutations in these and in 8 previously available cell lines. DNA samples from the 35 cell lines were tested by eight clinical genetic testing laboratories using DNA sequence analysis and methods to assess copy number (multiplex ligation-dependent probe amplification, semiquantitative PCR, or array-based comparative genomic hy...

Source: The Journal of Molecular Diagnostics - February 13, 2015 Category: Pathology Source Type: research