Genetic Evaluations

Pediatric Genetic Evaluation

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

Some indications may include:

• 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.