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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154 Results

Birt-Hogg-Dube Syndrome

Category: Cancer
Subcategory: Birt-Hogg-Dube Syndrome
Test Type: Single Gene

Bloom Syndrome

Category: Hematology
Subcategory: Bloom Syndrome
Test Type: Cytogenetic, Targeted Variant

Bone Marrow Transplant Testing (BMT)

Category: Multipurpose
Subcategory: Bone Marrow Transplant Testing (BMT)

Brugada Syndrome Panel

Category: Cardiogenetics
Subcategory: Brugada Syndrome
Test Type: Single Gene

Canavan Disease

Category: Skeletal/growth
Subcategory: Canavan Disease
Test Type: Targeted Variant

Carney Complex

Category: Cancer
Subcategory: Carney Complex
Test Type: Single Gene

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel

Category: Cardiogenetics
Subcategory: Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
Test Type: Gene Panel

Coagulation Panel (Factor II, Factor V, and MTHFR)

Category: Hematology
Subcategory: Coagulation Panel
Test Type: Gene Panel, Targeted Variant

Comprehensive Cancer Panel (Germline)

Category: Cancer
Subcategory: Hereditary Comprehensive Cancer

Comprehensive Hereditary Breast/Ovarian and GI Panel

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