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

64 Results

Alpha Thalassemia

Category: Hematology
Subcategory: Alpha Thalassemia
Test Type: Gene Panel

Beta Thalassemia

Category: Hematology
Subcategory: Beta Thalassemia
Test Type: Gene Panel

Bloom Syndrome

Category: Hematology
Subcategory: Bloom Syndrome
Test Type: Cytogenetic, Targeted Variant

Bone Marrow Transplant Testing (BMT)

Category: Multipurpose
Subcategory: Bone Marrow Transplant Testing (BMT)

Coagulation Panel (Factor II, Factor V, and MTHFR)

Category: Hematology
Subcategory: Coagulation Panel
Test Type: Gene Panel, Targeted Variant

Deep Vein Thrombosis

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

DPYD

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

DPYD

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

DPYD Genotyping

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

DPYD Genotyping

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