This directory lists diagnostic genetic tests available in Ontario for rare and inherited diseases, including molecular genetic, constitutional cytogenetic and pharmacogenetic tests.

This directory does not include:

• patient-paid testing
• genetic screening through Prenatal Screening Ontario
• genetic screening through Newborn Screening Ontario
• tumour testing through the Comprehensive Cancer Biomarker Testing Program

Please contact your local genetics laboratory to confirm availability of testing, patient eligibility or sample requirements.

See genetics guidance for evidence-based clinical guidance on genetic testing in Ontario, and the Ontario Genetics Clinic Directory for a list of genetics clinics in Ontario.

The information in this directory is intended for informational purposes only and may not reflect all recent updates.