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

29 Results

Adenosine deaminase deficiency

Category: Immunity, Metabolic
Subcategory: Adenosine Deaminase Deficiency (ADA)
Test Type: Single Gene

Aicardi-Goutieres syndrome

Category: Immunity
Subcategory: Primary immune deficiencies
Test Type: Gene Panel

Arterial Tortuosity Syndrome

Category: Cardiogenetics, Connective Tissue
Subcategory: Arterial Tortuosity Syndrome
Test Type: Single Gene

Autoinflammatory Disease: AG Panel 4

Category: Immunity
Subcategory: Aicardi-Goutieres Syndrome
Test Type: Gene Panel

Autoinflammatory Disease: AI Panel 3

Category: Immunity
Subcategory: Autoinflammatory Disease
Test Type: Gene Panel

Autoinflammatory Disease: Hemophagocytic Lymphohistiocytosis (HLH) panel

Category: Immunity
Subcategory: Hemophagocytic Lymphohistiocytosis (HLH)
Test Type: Gene Panel

Autoinflammatory Disease Panel: Recurrent Fever Syndrome

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

Bone Marrow Transplant Testing (BMT)

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

Chronic Granulomatous Disease

Category: Immunity
Subcategory: Primary immune deficiencies
Test Type: Gene Panel

Connective Tissue Disease: Bone Involvement Panel

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