Dr. Julie Jones, Ph.D. and FACMG, Greenwood Genetic Center.
Learn how the Greenwood Genetic Center has implemented the RainDance Autism Spectrum Disorder Panel. The ASDSeq™ Panel enriches for 62 genes targeting all of the known exons including 50 bases surrounding each exon as well as 1,000 bases of the 5’ promoter and 3’ UTR for each gene. The panel was developed as part of a joint collaboration between the Emory Medical Genetics laboratory, the Greenwood Genetic Center and RainDance Technologies. The genes that are targeted in the panels include genes that harbor mutations associated with ASD, genes that are associated with syndromic forms of autism with similar phenotypes to Rett and Angelman syndrome as well as several candidate genes for autism based on the findings from association studies. In her presentation Dr. Jones will share some of the results from the Greenwood Genetic Center validating the ASDSeq Panel and the performance that they have achieved with patient samples that have been evaluated.