The Autism/ID Xpanded Panel, offered by GeneDx of Gaithersburg, MD, uses a trio approach which analyzes not only the affected patient, but both parents. This approach is intended to increase the likelihood of identifying a definite genetic explanation for ASD or other intellectual disabilities (ID). Also, if needed, other family members may be evaluated.
The Autism/ID Xpanded Panel uses whole exome capture, NGS), and targeted analysis of a comprehensive list of approximately 2,300 genes currently associated with ASD and/or ID. The design of the panel allows for a comprehensive, dynamic gene list that is updated regularly to ensure inclusion of genes recently associated with ASD and/or ID. The test uses genomic DNA from the submitted specimen(s) and analyzes the exonic regions and other areas of the genome using a proprietary system developed by GeneDx. The test is performed on whole blood; buccal smears are not acceptable for the test.
The DNA is sequenced using NGS methodology on an Illumina sequencing system. The Autism/ID Xpanded Panel sequences the whole exome with the analysis targeted to the specific 2,300 gene list for this panel. Typically, the gene list is systematically updated at least quarterly.
