Genetic Testing (Chromosomal Microarray or Gene Panels)

Genetic Testing (Chromosomal Microarray or Gene Panels)

Genetic testing looks for changes or mutations in DNA that may explain neurological or psychiatric conditions such as autism spectrum disorder (ASD), intellectual disabilities, or epilepsy.

• Why it matters: Some disorders are linked to specific genes (like MECP2 in Rett syndrome or SCN1A in Dravet syndrome).

• In children: Early genetic testing can help families plan treatments, therapies, and even connect to clinical trials.

• Statistic: About 20–30% of children with developmental delays or autism have an identifiable genetic cause (National Library of Medicine, 2024).

• What families should know: The test usually requires a blood or saliva sample. Results may take a few weeks and can reveal inherited patterns that help with family counseling.

References:

National Library of Medicine. (2024). Genetic Testing for Pediatric Neurological Disorders.

Centers for Disease Control and Prevention. (2024). Autism Spectrum Disorder and Genetic Research.