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

109 Results

CACT deficiency

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

CADASIL

Category: Neurogenetics
Subcategory: CADASIL
Test Type: Single Gene

Carnitine Uptake Deficiency

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

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

Comprehensive Epilepsy Panel

Category: Neurogenetics
Subcategory: Epilepsy
Test Type: Gene Panel

Congenital Muscular Dystrophy

Category: Neurogenetics
Subcategory: Congenital Muscular Dystrophy
Test Type: Gene Panel

CPT1 deficiency

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

CPT2 deficiency

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

Dentatorubral-pallidoluysian atrophy (DRPLA)

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