Pediatric Specialists & Medical Evaluations
A family with a child who has developmental delay or developmental dysfunction may want to ask the child’s primary care provider for a referral to a clinical geneticist in order to have a complete genetic evaluation. It’s believed that 40 percent of all children with developmental delay will be diagnosed with a genetic disorder. During such an evaluation, blood may be drawn for karotype or chromosomal analysis in order to:
- Determine if the child has the appropriate number of chromosomes (46).
- Rule out deletions (pieces of chromosomal material missing) or additions (additional chromosomal material).
These findings are important for diagnosing syndromes and targeting treatments.