Medical Genetics

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
  • Birth defects
  • Known genetic syndromes in a family, such as neurofibromatosis, achondroplasia or osteogenesis imperfecta
  • Features suspicious of a known genetic syndrome
  • Chromosome abnormality

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.