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Pediatric Genetic Evaluation

Infants, children and adolescents are referred for genetic evaluation for a variety of reasons including:

  • Developmental delay/mental retardation
  • Birth defects such as heart defect, cleft lip/palate
  • Unusual growth patterns including short or tall stature, large or small head size, disproportionate growth, body assymetry
  • Sensory abnormalities such as deafness, blindness
  • Unusual physical features such as multiple and/or unusual birth marks
  • Known or suspected genetic disorder, for example muscular dystrophy, Prader-Willi syndrome
  • Maternal exposure to drugs, alcohol, chemicals or infections during the pregnancy with the child
  • A family history of a known or suspected genetic condition

The professional genetics team including a Board Certified genetic counselor and geneticist provide the Genetic Evaluation. During the appointment, family and medical history is reviewed, a physical examination is performed and medical tests may be ordered, as appropriate, to evaluate for a possible diagnosis. Discussions may include an explanation of a specific genetic disorder, its inheritance pattern and risk of recurrence in a family and potential treatment options for the condition.

A written summary of the evaluation is provided to the patient and referring physician.

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