The autism spectrum problems (ASD) comprise a team of neurobehavioral phenotypes of heterogeneous etiology. In spite of a around the world considerable analysis hard work to unravel the genetic mystery of autism, medical geneticists are nonetheless facing an embarrassing absence of expertise in dealing with the diagnosis, and for that reason prognosis, of a little one with autism. Even so, some lessons can be learned from accumulating encounter in the medical and molecular genetic evaluation of young children with this problem. Affected person analysis, indications for molecular testing and counseling are the three facets that will be reviewed in this evaluation. © 2012 Wiley Periodicals, Inc.