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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128 Results

Batten Disease

Category: Metabolic
Subcategory: Batten Disease (Neuronal Ceroid Lipofuscinoses)
Test Type: Gene Panel

Beta Thalassemia

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

Biotinidase Deficiency (BTD gene)

Category: Metabolic
Subcategory: Biotinidase Deficiency
Test Type: Single Gene

Birt-Hogg-Dube Syndrome

Category: Cancer
Subcategory: Birt-Hogg-Dube Syndrome
Test Type: Single Gene

Brain Malformation Epilepsy Panel

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

CADASIL

Category: Neurogenetics
Subcategory: CADASIL
Test Type: Single Gene

Carney Complex

Category: Cancer
Subcategory: Carney Complex
Test Type: Single Gene

Central Nervous System Cancer Panel

Category: Cancer
Subcategory: Hereditary Central Nervous System (CNS) Tumours
Test Type: Gene Panel

Charcot-Marie-Tooth Gene Panels

Category: Neurogenetics
Subcategory: Charcot-Marie-Tooth disease
Test Type: Gene Panel

Childhood Onset Epilepsy Panel

Category: Neurogenetics
Subcategory: Childhood onset Epilepsy
Test Type: Gene Panel