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:
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.
Note: OntarioHealth.ca has transitioned to a redesigned site. We are aware that the search function for the Ontario Genetic Test Directory is no longer available. It is expected to return in a future phase of the redesign. We apologize for the inconvenience. In the meantime, please use the filters to assist in your search.
Last Updated: January 06, 2026