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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77 Results

Smith-Lemli-Opitz Syndrome

Category: Metabolic
Subcategory: Smith-Lemli-Opitz Syndrome
Test Type: Single Gene

Spinal muscular atrophy

Category: Neurogenetics
Subcategory: Spinal muscular atrophy
Test Type: Gene Panel

Thoracic aneurisms and aortic dissections

Category: Cardiogenetics
Subcategory: Thoracic aneurisms and aortic dissections
Test Type: Gene Panel

TPMT Gene Mutation

Category: Pharmacogenetics
Subcategory: Thiopurine S-methyltransferase deficiency (TPMT)
Test Type: Single Gene

Very Long Chain acyl-CoA dehydrogenase Deficiency

Category: Metabolic
Subcategory: Very Long Chain acyl-CoA dehydrogenase Deficiency
Test Type: Single Gene

Whole Exome Sequencing (WES)

Category: Genome-wide
Subcategory: Whole Exome Sequencing (WES)

Whole Genome Sequencing (WGS)

Category: Genome-wide
Subcategory: Whole Genome Sequencing (WGS)