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

Carnitine Uptake Deficiency

Category: Metabolic
Subcategory: Fatty Acid Oxidation Diseases
Test Type: Single Gene

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel

Category: Cardiogenetics
Subcategory: Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
Test Type: Gene Panel

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel

Category: Cardiogenetics
Subcategory: Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
Test Type: Gene Panel

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

Chondrodysplasia punctata 1

Category: Skeletal/growth
Subcategory: Chondrodysplasia punctata 1
Test Type: Single Gene

Chromosome analysis

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Chromosomal Anomalies

Chronic Granulomatous Disease

Category: Immunity
Subcategory: Primary immune deficiencies
Test Type: Gene Panel

CNS Tumour

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