Ontario Genetic Test Directory

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.

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42 Results

Hereditary Lung Cancer

Category: Cancer
Subcategory: Hereditary Lung Cancer
Test Type: Targeted Variant

Hereditary Pancreatic Cancer

Category: Cancer
Subcategory: Hereditary Pancreatic Cancer (Adenocarcinoma)
Test Type: Gene Panel

Hereditary Pheochromocytoma and Paraganglioma Syndrome

Category: Cancer
Subcategory: Hereditary Pheochromocytoma and Paraganglioma

Li-Fraumeni Syndrome

Category: Cancer
Subcategory: Li-Fraumeni Syndrome
Test Type: Single Gene

Lynch Syndrome

Category: Cancer
Subcategory: Lynch Syndrome
Test Type: Gene Panel

MLH1 germline methylation

Category: Cancer
Subcategory: Lynch Syndrome
Test Type: Single Gene

Multiple Endocrine Neoplasia Type 1

Category: Cancer
Subcategory: Multiple Endocrine Neoplasia Type 1 (MEN Type 1)
Test Type: Gene Panel

Multiple Endocrine Neoplasia Type 2

Category: Cancer
Subcategory: Multiple Endocrine Neoplasia Type 2 (MEN Type 2)
Test Type: Single Gene

Neurofibromatosis, Type 1 (NF1)

Category: Cancer
Subcategory: Neurofibromatosis type 1
Test Type: Single Gene

Nevoid Basal Cell Carcinoma/ Gorlin Syndrome

Category: Cancer
Subcategory: Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)
Test Type: Gene Panel