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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68 Results

Malignant Hyperthermia

Category: Neurogenetics, Pharmacogenetics
Subcategory: Malignant Hyperthermia
Test Type: Gene Panel

Marfan syndrome

Category: Cardiogenetics, Connective Tissue
Subcategory: Marfan Syndrome
Test Type: Single Gene

Myotonic dystrophy type 1

Category: Neurogenetics
Subcategory: Myotonic dystrophy type 1
Test Type: Single Gene

Myotonic dystrophy type 2

Category: Neurogenetics
Subcategory: Myotonic dystrophy type 2
Test Type: Single Gene

Noonan Syndrome and RASopathies

Category: Cardiogenetics, Immunity, Multiple Congenital Anomalies
Subcategory: Noonan Syndrome and RASopathies
Test Type: Gene Panel

Oculopharyngeal muscular dystrophy

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

Oculopharyngeal muscular dystrophy (OPMD)

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

Pediatric Cardiomyopathy and Arrythmia Panel

Category: Cardiogenetics
Subcategory: Cardiomyopathy and Arrhythmia
Test Type: Gene Panel

Pediatric Cardiomyopathy and Arrythmia Panel

Category: Cardiogenetics
Subcategory: Cardiomyopathy and Arrhythmia
Test Type: Gene Panel

Pediatric Cardiomyopathy panel

Category: Cardiogenetics
Subcategory: Cardiomyopathy
Test Type: Gene Panel