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Genetic tests available Requisitions and forms
Frequently asked questions Sample requirements and shipping
About us
- Our laboratory provides molecular and cytogenetic analysis for a select test menu of disorders affecting children and adults.
- Currently, samples are only accepted from residents of Canada.
The CHEO Genetics Diagnostic Laboratory is licensed by the Ministry of Health and Long-Term Care (MOHLTC) and holds accreditation from Accreditation Canada Diagnostics (ACD). Our cytogenetic section is also approved by the Children’s Oncology Group (COG) in pediatric oncology.
It is under the direction of Cytogeneticists and Molecular Geneticists certified by the Canadian College of
Medical Geneticists (CCMG) or the American College of Medical Genetics and Genomics (ACMG).
It is staffed by technologists who are licensed by the College of Medical Laboratory Technologists of Ontario (CMLTO) and certified Genetic Counsellors.
The CHEO Genetics Diagnostic Laboratory is a partner in Genome-wide Sequencing Ontario (GSO), a pilot implementation for rare disease diagnostics. For more information about GSO or to order genome-wide sequencing, please visit the Genome-wide Sequencing Ontario website.
If after searching our list of genetic tests available, you can’t locate the test you are interested in, it may be offered by other laboratories. Visit the Genetic Testing Registry (GTR) to search for a desired test.
Laboratory updates
CHEO’s Genetics Diagnostic Laboratory (GDL) is updating its service areas for select tests. Starting August 1, 2025, the following tests will be rejected if the patient’s home address is outside the updated catchment areas:
Applicable Tests and Catchment Areas:
- Chromosome Analysis (Constitutional Testing on Adults from Ontario-except tests ordered for Microarray F/U): Champlain region (Eastern Ontario)
- Fragile X: Champlain, Southern, Western, and Northern Ontario (Excludes Toronto and Central Ontario)
- Hemochromatosis: Champlain and Northern Ontario
- Factor V Leiden & Factor II Prothrombin: Champlain and Northern Ontario
These changes are part of our efforts to align with regional service agreements and improve service delivery.
Please verify the patient’s address before submitting a requisition to avoid delays or rejections.
For more information, contact the GDL (GDLAdmins@cheo.on.ca) or refer to our test directory.
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