Medical Genetics Service

The Medical Genetics Service at Stanford Children’s Health provides 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 the Medical Genetics clinic include:

  • Developmental delay
  • Intellectual disability
  • Autism spectrum disorders
  • Birth defects
  • Known genetic syndromes in the family, such as neurofibromatosis, achondroplasia, or osteogenesis imperfecta
  • Suspicion of a known genetic syndrome
  • Chromosome abnormality

For more information about our services, please contact the Genetics Office at (650) 723-6858. To refer a patient to the Genetics Service, please contact the Referral Center at (800) 995-5724 or fax a Referral Request (link) to (650) 721-2884.

Medical Genetics Care Team