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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.
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Certified Laboratory Geneticists provide test interpretation and consultation.
- 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
New Hereditary Cancer Panels at CHEO GDL (effective July 1st)
CHEO's GDL is launching an expanded suite of hereditary cancer panels designed to improve the diagnosis of hereditary cancer predisposition syndromes. The new offerings provide broader gene coverage and more targeted options for specific cancer types and syndromes.
Panels and gene counts:
- Hereditary Cancer Core (40 genes)
- Hereditary GI (34 genes)
- Gastric Cancer (18 genes)
- Colorectal and Polyposis (23 genes)
- Pancreatic Cancer (14 genes- updated from 12)
- GIST (8 genes)
- Sarcoma (14 genes)
- PPGL (12 genes)
- CNS (20 genes)
- Hereditary Renal (15 genes)
- Ashkenazi Jewish Panel (7 variants-updated from 3)
Single gene testing and small gene panels remain available on request (contact the lab for details).
What's changing: These panels replace the current Hereditary Breast/Ovarian/Prostate Cancer (HBOPC), Hereditary Pancreatic Cancer, and BRCA1/BRCA2 Ashkenazi Jewish Founder Mutations panels.
For more information, contact the GDL (GDLAdmins@cheo.on.ca) or refer to our test directory
Other recent updates
| Updated catchment areas for select tests (effective August 1, 2025) |
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Starting August 1, 2025, the following tests are only accepted from patients within the specified Ontario regions:
Please verify the patient's home address before submitting a requisition to avoid rejections. Questions? Contact GDLAdmins@cheo.on.ca |
Contact us
Genetics Diagnostic Laboratory, CHEO
401 Smyth Road
W3403
Ottawa ON K1H 8L1
Phone: (613) 737-7600 ext. 3796
Fax: (613) 738-4814
Email: GDLAdmins@cheo.on.ca
Hours: Monday to Friday: 8:00am-4:30pm