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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106 Results

22q11.2 Deletion Syndrome

Category: Neurodevelopmental
Subcategory: 22q11.21 Deletion Syndrome
Test Type: Cytogenetic

Actionable Gene Epilepsy Panel

Category: Neurogenetics
Subcategory: Actionable Epilepsy
Test Type: Gene Panel

Alpha Thalassemia

Category: Hematology
Subcategory: Alpha Thalassemia
Test Type: Gene Panel

Angelman Syndrome

Category: Neurodevelopmental
Subcategory: Angelman/Prader Willi Syndrome
Test Type: Single Gene

Angelman Syndrome

Category: Neurodevelopmental
Subcategory: Angelman Syndrome
Test Type: Single Gene

Ataxia Telangiectasia /Nijmegen Breakage Syndrome

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

Becker Muscular Dystrophy

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

Beta Thalassemia

Category: Hematology
Subcategory: Beta Thalassemia
Test Type: Gene Panel

Bloom Syndrome

Category: Hematology
Subcategory: Bloom Syndrome
Test Type: Cytogenetic, Targeted Variant

Brain Malformation Epilepsy Panel

Category: Neurogenetics
Subcategory: Brain Malformation Epilepsy
Test Type: Gene Panel