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

50 Results

Prothrombin Mutation G20210A

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

Prothrombin Thrombophilia

Category: Hematology
Subcategory: Thrombophilia (Factor II Prothrombin)

Rare Familial Mutations

Category: Genome-wide
Subcategory: Known Familial Variant

Rare Familial Mutations

Category: Genome-wide
Subcategory: Known Familial Variant

Rare Family Variant Sequencing

Category: Genome-wide
Subcategory: Known Familial Variant

RNA sequencing of whole transcriptome

Category: Genome-wide
Subcategory: Whole Transcriptome Sequencing

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