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.

Displaying Results

154 Results

Autoinflammatory Disease Panel: Recurrent Fever Syndrome

Category: Immunity
Subcategory: Recurrent Fever Syndrome
Test Type: Gene Panel

AXIN2-related Attenuated Familial Adenomatous Polyposis

Category: Cancer
Subcategory: AXIN2-related Attenuated Familial Adenomatous Polyposis
Test Type: Single Gene

BAP1 Tumour Predisposition Syndrome

Category: Cancer
Subcategory: BAP1 Tumour Predisposition Syndrome
Test Type: Single Gene

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

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)

C9orf72-related disorders

Category: Neurogenetics
Subcategory: C9orf72-related disorders
Test Type: Single Gene

Canavan Disease

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