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Genetics & Metabolics

The Genetics & Metabolics clinic provides genetic assessment and diagnostic work-up, genetic and metabolic testing, family counseling, and information regarding management and long-term outcomes for patients diagnosed with genetic conditions. Patients with inherited metabolic conditions are also seen for long term management and follow-up. Our clinic is also home to one of the five regional referral centers in the province for newborn screening, responsible for retrieving all positive newborn screens in our region. Both pediatric and adult populations are seen in our clinic.

For more information, visit the Genetics & Metabolics page for patients and families.

Patients/Conditions To Refer

For diagnostic work-up and assessment, we accept referrals for patients with developmental delays/intellectual disability, dysmorphic features, growth delay/short stature, congenital anomalies, major organ defects and/or clinical or biochemical suspicion of a metabolic disorder. Requests for specific genetic testing are also accepted for patients in whom there is a clinical diagnosis or differential diagnosis provided by another subspecialist (e.g – neurologist). Genetic counselling is provided related to family history concerns of confirmed or possible genetic conditions, predictive genetic testing for adult-onset genetic conditions, consanguinity, population-based carrier testing, and/or history of previous fetal anomalies or still birth.

Referral & Contact Information


Phone: 905-521-5085 or 905-521-2100 ext. 75631

Download referral form and fax to 905-521-2602.

Assessment Options

  • In-person visits
  • Virtual consultations

Estimated Wait Times

Geneticist consultation: 9-12 months

Genetic counseling: 5-9 months

Urgent referrals are prioritized