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

Hereditary Spastic Paraplegia: Comprehensive

Category: Neurogenetics
Subcategory: Hereditary Spastic Paraplegia
Test Type: Gene Panel

Hereditary Thrombophilia

Category: Hematology
Subcategory: Thrombophilia (Factor II Prothrombin and V Leiden)
Test Type: Targeted Variant

Homocystinuria

Category: Metabolic
Subcategory: Amino Acid Disorders
Test Type: Gene Panel

Homocystinuria: Hypermethioninemia

Category: Metabolic
Subcategory: Amino Acid Disorders
Test Type: Gene Panel

Homocystinuria: Hypomethioninemia

Category: Metabolic
Subcategory: Amino Acid Disorders
Test Type: Gene Panel

Huntington Disease (HD)

Category: Neurogenetics
Subcategory: Huntington Disease (HD)
Test Type: Single Gene

Hydroxyglutaric Aciduria

Category: Mitochondrial
Subcategory: Mitochondrial nuclear gene
Test Type: Gene Panel

Hyperferritinemia Cataract Syndrome

Category: Ophthalmology
Subcategory: Hyperferritinemia Cataract Syndrome
Test Type: Single Gene

Hyperkalemic periodic paralysis, type 2

Category: Neurogenetics
Subcategory: Hyperkalemic periodic paralysis
Test Type: Single Gene

Identity testing

Category: Multipurpose
Subcategory: Identity testing