Biochemical Genetics Referral
We diagnose, treat and manage metabolic diseases. These include amino acid disorders, fatty acid oxidation defects, organic acidurias, and disorders of the carbohydrate metabolism, including glycogen storage diseases, lysosomal storage disorders, peroxisomal disorders, mitochondrial disorders and neurometabolic disorders.
We also assess children and youth who are:
- Referred for recurrent unexplained illnesses
- Experience developmental delay or regression
- Have neurocognitive impairment, seizures and intellectual disability associated with seizures or autism
- Have a positive family history of a metabolic disease
We also serve babies with a positive newborn screen.
Referral overview
Patients need a referral from a family doctor, pediatrician or nurse practitioner to access services at this clinic.
Referral steps
Primary care providers can write their own referral and fax it to: 604-875-2349. Please include recent lab results and assessments.
You do not need to take further action after submitting a referral. The clinic will reach out directly to the patient's family or caregiver to book an appointment.
Contact information
Address:
1st Floor, Area #5
Ambulatory Care Building
BC Children's Hospital
Vancouver, BC
V6H 3V4
Phone: 604-875-2880
Toll free: 1-888-300-3088, extension 2880
Fax: 604-875-2349
Hospital Accessioning Lab: 604-875-5286 (available from 7 a.m. to 6 p.m.)
24-hour emergency pager: 604-875-2161 - ask for the biochemical genetics physician on call
Email: biochemicalclerical@cw.bc.ca