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

Spinocerebellar Ataxia type 6 (SCA6)

Category: Neurogenetics
Subcategory: Spinocerebellar Ataxia (SCA)
Test Type: Single Gene

Spinocerebellar Ataxia type 7 (SCA7)

Category: Neurogenetics
Subcategory: Spinocerebellar Ataxia (SCA)
Test Type: Single Gene

Spinocerebellar Ataxia type 8 (SCA8)

Category: Neurogenetics
Subcategory: Spinocerebellar Ataxia (SCA)
Test Type: Single Gene

Succinic semialdehyde dehydrogenase deficiency

Category: Metabolic
Subcategory: Organic Acid Disorders
Test Type: Single Gene

Targeted Microarray

Category: Chromosomal Anomalies, Neurodevelopmental
Subcategory: Microarray: Microduplication/deletion Syndrome

Tay-Sachs Disease

Category: Neurogenetics
Subcategory: Tay-Sachs Disease
Test Type: Single Gene

Thanatophoric Dysplasia (Type I & II)

Category: Skeletal/growth
Subcategory: Thanatophoric Dysplasia
Test Type: Gene Panel

Thoracic aneurisms and aortic dissections

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

Thrombosis

Category: Hematology
Subcategory: Thrombosis
Test Type: Targeted Variant

TPMT Gene Mutation

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