Medical Genetics

Pediatric Medical Genetics

Overview

The Division of Medical Genetics conducts 10 weekly clinics.

Clinical services include diagnostic evaluation, education, counseling and medical care for children and families with genetic disorders, birth defects, mental retardation, developmental delay, neurological disorders, inborn errors of metabolism and chromosomal abnormalities.

Diagnostic procedures include:

  • metabolic studies
  • chromosome laboratory evaluations
  • peripheral blood and skin fibroblast chromosome evaluations
  • molecular genetic studies
  • genotype/phenotype correlation

The Division expands their inpatient consult follow-up service by offering social work support.