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

18 Results

C9orf72-related disorders

Category: Neurogenetics
Subcategory: C9orf72-related disorders
Test Type: Single Gene

Dentatorubral-pallidoluysian atrophy (DRPLA)

Category: Neurogenetics
Subcategory: Dentatorubral-pallidoluysian atrophy
Test Type: Single Gene

Factor V Leiden

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

Fragile X-associated tremor/ataxia syndrome

Category: Neurodevelopmental, Neurogenetics
Subcategory: Fragile X Syndrome
Test Type: Single Gene

Friedreich's Ataxia (FRDA)

Category: Neurogenetics
Subcategory: Friedreich's Ataxia (FRDA)
Test Type: Single Gene

Haemochromatosis

Category: Hematology
Subcategory: Hereditary Hemochromatosis
Test Type: Targeted Variant

Huntington Disease (HD)

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

Oculopharyngeal muscular dystrophy (OPMD)

Category: Neurogenetics
Subcategory: Oculopharyngeal muscular dystrophy (OPMD)
Test Type: Single Gene

Prothrombin Gene 20210A Mutation

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

Spinal and Bulbar Muscular Atrophy (SBMA)

Category: Neurogenetics
Subcategory: Spinal and Bulbar Muscular Atrophy (SBMA)
Test Type: Single Gene