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

52 Results

Myotonic dystrophy type 2

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

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

Pharmacogenetic testing - DPYD

Category: Pharmacogenetics
Subcategory: Dihydropyrimidine dehydrogenase deficiency (DPYD)
Test Type: Targeted Variant

Progressive Myoclonic Epilepsy Panel

Category: Neurogenetics
Subcategory: Progressive Myoclonic Epilepsy
Test Type: Gene Panel

Single Gene test: DPYD

Category: Pharmacogenetics
Subcategory: Dihydropyrimidine dehydrogenase deficiency (DPYD)
Test Type: Targeted Variant

Single Gene test: HLA-B*5701

Category: Pharmacogenetics
Subcategory: Abacavir hypersensitivity
Test Type: Targeted Variant

Single Gene test: TPMT

Category: Pharmacogenetics
Subcategory: Thiopurine S-methyltransferase deficiency (TPMT)
Test Type: Targeted Variant

Spinal and bulbar muscular atrophy (AR gene)

Category: Neurogenetics
Subcategory: Spinal and Bulbar Muscular Atrophy (SBMA)
Test Type: Single Gene

Spinal and Bulbar Muscular Atrophy (SBMA)

Category: Neurogenetics
Subcategory: Spinal and Bulbar Muscular Atrophy (SBMA)
Test Type: Single Gene