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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633 Results

Ashkenazi Jewish Panel

Category: Cancer
Subcategory: Ashkenazi Jewish Panel
Test Type: Targeted Variant

Ashkenazi Jewish Panel

Category: Cancer
Subcategory: Ashkenazi Jewish Panel
Test Type: Targeted Variant

Ashkenazi Jewish Panel

Category: Cancer
Subcategory: Ashkenazi Jewish Panel
Test Type: Targeted Variant

Ataxia Telangiectasia /Nijmegen Breakage Syndrome

Category: Neurogenetics
Subcategory: Ataxia Telangiectasia (Nijmegen Breakage Syndrome)
Test Type: Cytogenetic

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

Autosomal dominant PKD Analysis

Category: Renal
Subcategory: Polycystic Kidney Disease
Test Type: Gene Panel

Autosomal recessive PKD Analysis

Category: Renal
Subcategory: Polycystic Kidney Disease
Test Type: Single Gene