Genetics Clinic

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Overview of a Pediatric Genetics Appointment

The family was referred to a genetics clinic so that they could gain as much information as possible about the chromosome 8 deletion.

A typical pediatric genetics evaluation consists of the following:

  • A detailed medical history of the pregnancy, labor, and delivery
  • A detailed postnatal medical history of the child
  • A 3-generation family medical history, or pedigree
  • A detailed head to toe physical examination, with an emphasis on dysmorphology
  • Genetic counseling

Each of the components of a pediatric genetics visit will be described in greater detail in the next few pages.

Often, families will see more than one healthcare provider during a pediatric genetics evaluation. Usually a clinical geneticist (a physician) will perform the physical examination. Additional components of the evaluation may either be performed by the clinical geneticist or by a genetic counselor (a master's-level professional).