Researchers have identified several genetic causes of autism spectrum disorder (ASD), including chromosome abnormalities, copy number variants, metabolic changes, and single-gene disorders. The diagnostic yield for identifying a specific genetic etiology has been reported as 6-15%, which should improve once genetic testing methods evolve, scientific literature expands, and clinical experience increases (Schaefer et al. 2013). The specific genetic defect could be molecular, cytogenetic or biochemical in nature; therefore, choosing a comprehensive lab that offers all three types of testing may be advantageous. Keep reading to learn more about EGL's approach to genetic testing for ASD.
According to the CDC about 1 in 68 children and over 3 million individuals total in the United States, and tens of millions worldwide, are estimated to have ASD. In addition, boys are 4 times more likely than girls to develop an ASD. Most cases appear to be caused by a combination of autism risk genes and environmental factors influencing early brain development.
While many people are familiar with autism, keep reading to learn more about the autism spectrum.
The growing body of evidence supporting the role of genetics in neurologic disorders has resulted in neurogenetics becoming an increasingly discussed topic within the healthcare field, promoting genetic testing as a valuable tool at the clinician’s disposal. However, with so many testing options available and the genetic etiology of some neurologic conditions remaining unclear, multi-factorial, and requiring additional patient counseling, where does one begin to incorporate genetic testing into the treatment paradigm?