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

51 Results

Pyruvate dehydrogenase complex deficiency

Category: Mitochondrial
Subcategory: Mitochondrial nuclear gene
Test Type: Gene Panel

Shwachman-Diamond Syndrome

Category: Hematology
Subcategory: Shwachman-Diamond Syndrome
Test Type: Single Gene

Single Gene test: Factor V Leiden

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

Single Gene tests (Hemoglobinopathies)

Category: Hematology
Subcategory: Hemoglobin Diseases
Test Type: Gene Panel

Single Gene test: HFE

Category: Hematology
Subcategory: Hereditary Hemochromatosis
Test Type: Targeted Variant

Single Gene test: MTHFR

Category: Hematology
Subcategory: Thrombosis
Test Type: Targeted Variant

Single Gene test: Prothrombin 20210

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

Single Genetests (HFE)

Category: Hematology
Subcategory: Hereditary Hemochromatosis
Test Type: Targeted Variant

Thrombosis

Category: Hematology
Subcategory: Thrombosis
Test Type: Targeted Variant

TPMT/NUDT15 Panel (Pharmacogenetic testing)

Category: Hematology
Subcategory: TPMT/NUDT15 Panel (Pharmacogenetic testing)
Test Type: Gene Panel, Targeted Variant