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

42 Results

Dentatorubral-pallidoluysian atrophy (DRPLA)

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

Duchenne Muscular Dystrophy

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

Early Infantile Epilepsy Panel

Category: Neurogenetics
Subcategory: Early Infantile Epilepsy
Test Type: Gene Panel

Facioscapulohumeral Muscular Dystrophy

Category: Neurogenetics
Subcategory: Facioscapulohumeral Muscular Dystrophy
Test Type: Other

Familial Dysautonomia

Category: Neurogenetics
Subcategory: Familial Dysautonomia
Test Type: Targeted Variant

Focal Epilepsy Panel

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

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

GTP Cyclohydrolase-1 related disorders (GCH1)

Category: Neurogenetics
Subcategory: GTP Cyclohydrolase-1 related disorders
Test Type: Single Gene

Hereditary sensory neuropathy type IA

Category: Neurogenetics
Subcategory: Hereditary Sensory Neuropathy
Test Type: Single Gene