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.

XY Variations Specialists

Check back soon for our updated list of Pediatric Specialists