Biochemical Genetics Referrals
Refer to a CHOC Pediatric Biochemical Genetics Specialist
Referrals can be placed online through the eCeptionist Referral Portal.
About Our Division
Learn more about CHOC's Biochemical Genetics Division.
Our highly experienced geneticists provide innovative and efficient care to improve the quality of life for children and their families.
Our geneticists commonly treat:
- Angelman syndrome
- CHARGE syndrome
- Chromosome abnormalities (including Down syndrome, Turner syndrome, 22q11.2 deletion syndrome, Cri-du-chat syndrome, Williams syndrome, Miller-Dieker syndrome, Wolf-Hirschhorn syndrome)
- Cleft palate, cleft lip and other craniofacial conditions
- Craniosynostosis
- Connective tissue disorders (including Ehlers-Danlos syndrome, Marfan syndrome, etc.)
- Fragile X syndrome
- Holt-Oram syndrome
- Kabuki syndrome
- Koolen-De Vries syndrome
- Muscular dystrophy (including Duchenne/Becker muscular dystrophy and many others)
- Neurofibromatosis (including NF types 1 and 2, and Schawannomatosis)
- Osteogenesis imperfecta (OI)
- Prader-Willi syndrome
- RASopathies including Noonan syndrome, CFC syndrome, Costello syndrome and Legius syndrome
- Skeletal dysplasias (including achondroplasia, hypochondroplasia and many others)
- Tuberous sclerosis complex
- And other rare and common genetic conditions.
Specialty Care Physician Concierge Service
Our physician concierge service expedites physician to physician communication with CHOC specialists. We can assist you with urgent patient referrals, access for urgent appointments, scheduling inquiries and access to specialists.
Monday – Friday, 8:00 am – 5:00 pm