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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87 Results

Becker Muscular Dystrophy

Category: Neurogenetics
Subcategory: Becker Muscular Dystrophy
Test Type: Single Gene

Beckwith-Wiedemann Syndrome

Category: Skeletal/growth
Subcategory: Beckwith-Wiedemann 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)

Canavan Disease

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

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

Congenital Muscular Dystrophy

Category: Neurogenetics
Subcategory: Congenital Muscular Dystrophy
Test Type: Gene Panel

Connective Tissue Disease: Bone Involvement Panel

Category: Connective Tissue
Subcategory: Bone Involvement
Test Type: Gene Panel

Connective Tissue Disease: Ehlers-Danlos Syndrome Panel

Category: Cardiogenetics, Connective Tissue
Subcategory: Ehlers-Danlos Syndrome
Test Type: Gene Panel