Division of Human Genetics
CHOP’s genetics services contribute to the diagnosis and care of children and adolescents with rare genetic diseases. Our team is committed to ongoing research to better understand the genetic basis of a wide variety of pediatric disorders with the goal of improving treatment options and outcomes.
Mitochondrial Disease: Dakota’s Story
Facing a tough diagnosis together, CHOP doctors offer Dakota hope and support, while she helps them learn more about her rare mitochondrial disease.
Conditions We Evaluate
Our Programs and Services
Appointments and Referrals