Medical Genetics

Comprehensive care for children and adults with genetic conditions

At Stanford Medicine Children’s Health, we provide comprehensive care for children and adults with genetic conditions. This includes complete diagnostic evaluation, clinical management and genetic counseling by a team of medical geneticists and genetic counselors.

Common referral indications to Medical Genetics include, but are not limited to:

  • Developmental delay
  • Intellectual disability
  • Autism spectrum disorders
  • Congenital anomalies
  • Sensorineural hearing loss
  • Familial disorders
  • Skeletal dysplasias
  • Skin disorders
  • Chromosome abnormalities
  • Inborn errors of metabolism
  • RASopathies such as NF1 and Noonan syndrome
  • Features suspicious of a known genetic syndrome

You can learn more about what to expect during your visit with Genetics Services here.

For more information about our services, please call (650) 721-5804. To refer a patient, please contact the Referral Center at (800) 995-5724 or fax a referral request form to (650) 721-2884.