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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133 Results

Autoinflammatory Disease Panel: Recurrent Fever Syndrome

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

b-ketothiolase deficiency

Category: Metabolic
Subcategory: Organic Acid Disorders
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

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)

CACT deficiency

Category: Metabolic
Subcategory: Fatty Acid Oxidation Diseases
Test Type: Single Gene

Canavan Disease

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

Carnitine Uptake Deficiency

Category: Metabolic
Subcategory: Fatty Acid Oxidation Diseases
Test Type: Single Gene

Chronic Granulomatous Disease

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