Confirms or rules out known genetic syndromes that impact development, such as:
- Down syndrome, 22q11.2 deletion syndrome, Rett syndrome, Williams syndrome, etc.
- Conducted by a geneticist using laboratory tests such as chromosomal microarray (CMA) or whole exome sequencing (WES).
- Important for understanding co-occurring medical or cognitive conditions and anticipating long-term supports.
- Key Outcome: Genetic report summarizing findings, variant interpretation, and family genetic counseling recommendations.
