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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Hereditary Gastric Cancer

Category: Cancer
Subcategory: Hereditary Gastric Cancer
Test Type: Gene Panel

Hereditary Hemochromatosis

Category: Hematology
Subcategory: Hereditary Hemochromatosis
Test Type: Targeted Variant

Hereditary Hyperparathyroidism

Category: Endocrinology
Subcategory: Hereditary Hyperparathyroidism
Test Type: Gene Panel

Hereditary Leiomyomatosis and Renal Cell Carcinoma

Category: Cancer
Subcategory: Hereditary Leiomyomatosis and Renal Cell Cancer
Test Type: Single Gene

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

Malignant Hyperthermia

Category: Neurogenetics, Pharmacogenetics
Subcategory: Malignant Hyperthermia
Test Type: Gene Panel