Genetic testing looks at a child’s DNA to find chromosomal or gene-level differences that may explain developmental or medical conditions.
- Types of testing include:
- Chromosomal microarray (CMA): Detects missing or extra DNA pieces (deletions or duplications).
- Fragile X testing: Screens for Fragile X syndrome, a common cause of inherited intellectual disability.
- Whole Exome Sequencing (WES): Examines many genes at once to identify rare or complex genetic variants.
- Conducted through a geneticist or genetic counselor, often using a blood or saliva sample.
- Key Outcome: Genetic Testing Report listing findings, variant classifications (pathogenic, likely benign, etc.), and family counseling notes.
