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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35 Results

Marfan syndrome

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

Mitochondrial Encephalopathy/Leigh Disease

Category: Mitochondrial
Subcategory: Mitochondrial nuclear gene
Test Type: Gene Panel

Mitochondrial Gene Panels

Category: Mitochondrial
Subcategory: Mitochondrial Genome
Test Type: Gene Panel

Mitochondrial Genome Panel

Category: Mitochondrial
Subcategory: Mitochondrial Genome
Test Type: Gene Panel

mtDNA depletion and deletion

Category: Mitochondrial
Subcategory: Mitochondrial nuclear gene
Test Type: Gene Panel

Noonan Syndrome and RASopathies

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

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

Pediatric Cardiomyopathy Panel

Category: Cardiogenetics
Subcategory: Cardiomyopathy
Test Type: Gene Panel