Despite the significant heritability of autism spectrum disorders (ASD), their extreme genetic heterogeneity has posed a challenge to researchers seeking to identify the genes involved. To establish a diagnostic approach for cases of autism, it is recommended to first conduct a full-coverage array CGH. In cases with peculiar phenotypes, a Fragile X syndrome study could be performed as it has been determined that one of the symptoms of this syndrome is the autistic phenotype. In cases with negative results, the next study to perform should be a NGS sequencing panel targeting those genes that are more prevalent in autism.
Another more extensive approach would be whole exome sequencing (please see our exome options). ICM provides diagnostic solutions for the variety of different cases that clinicians may be presented with during consultations, helping specialists to choose which study to perform. Contact the advisory team by email at profesionales@e-icm.net. ICM offers clinicians a wide range of genetic studies that can be viewed in the available catalogue.