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

84 Results

Malignant Hyperthermia

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

MTHFR

Category: Hematology
Subcategory: Thrombosis
Test Type: Targeted Variant

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

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

Progressive Myoclonic Epilepsy Panel

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

Prothrombin Gene 20210A Mutation

Category: Hematology
Subcategory: Thrombophilia (Factor II Prothrombin)
Test Type: Targeted Variant

Prothrombin Gene Mutation

Category: Hematology
Subcategory: Thrombophilia (Factor II Prothrombin)
Test Type: Targeted Variant

Prothrombin Mutation G20210A

Category: Hematology
Subcategory: Thrombophilia (Factor II Prothrombin)
Test Type: Targeted Variant