Pediatric Genetics

Our pediatric genetic specialists diagnose and treat genetic disorders in children, use their expertise to provide comprehensive genetic counseling and guide families through the complexities of inherited conditions, offering personalized care and support.

What We Treat

Conditions we see or help evaluate for a potential genetic cause:

  • Postnatal evaluation of genetic abnormality suspected during a pregnancy
  • Developmental delay
  • Intellectual disability/learning difficulty
  • Autism spectrum disorder
  • Abnormal growth (slow growth or overgrowth)
  • Birth defects (brain, heart, kidney, etc.)
  • Dysmorphic features
  • Hearing loss
  • Birthmarks (café au lait macules, etc.)
  • Seizures
  • Cardiac concerns (arrhythmia, cardiomyopathy)
  • Connective tissue disorders* (such as Marfan syndrome)
    • *Please note: We are not accepting referrals for hypermobile Ehlers Danlos syndrome
  • Known genetic conditions (Down syndrome, 22q11.2 deletion syndrome, Turner syndrome, Klinefelter syndrome, etc.)
  • Abnormal genetic testing (to assist with interpretation/diagnosis

For Referring Physicians

    • We primarily evaluate pediatric patients (ages 0-18 years)
    • We have limited ability to evaluate/treat metabolic conditions. We recommend UNC or Duke for these indications.
    • For prenatal genetic counseling, please visit: Cone Health Center for Maternal Fetal Care
    • For adult cancer genetic counseling, please see: Genetic Counseling and Testing
    • We welcome any questions about whether a Genetics referral is warranted for your patient. Please contact our office at (336) 272-6161 to discuss.

Ask For a Referral

You’ll need a physician’s referral for pediatric specialty care. For more information, talk to your doctor or call Cone Health Pediatric Specialists.

336-272-6161

Quick Access Links