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

134 Results

Hereditary Hemorrhagic Telangiectasia: ACVRL1, ENG

Category: Hematology
Subcategory: Hereditary Hemorrhagic Telangiectasia (HHT)
Test Type: Gene Panel

Hereditary Hemorrhagic Telangiectasia: SMAD4 Sequencing

Category: Hematology
Subcategory: Hereditary Hemorrhagic Telangiectasia (HHT)
Test Type: Single Gene

Hereditary Hyperparathyroidism

Category: Cancer
Subcategory: Hereditary Hyperparathyroidism
Test Type: Gene Panel

Hereditary Leiomyomatosis and Renal Cell Cancer

Category: Cancer
Subcategory: Hereditary Leiomyomatosis and Renal Cell Cancer
Test Type: Single Gene

Hereditary Lung Cancer

Category: Cancer
Subcategory: Hereditary Lung Cancer
Test Type: Single Gene

Hereditary Pheochromocytoma and Paraganglioma

Category: Cancer
Subcategory: Hereditary Pheochromocytoma and Paraganglioma
Test Type: Gene Panel

Hereditary Spastic Paraplegia: Comprehensive

Category: Neurogenetics
Subcategory: Hereditary Spastic Paraplegia
Test Type: Gene Panel

Hereditary Thrombophilia

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

Identity/Zygosity Testing

Category: Multipurpose
Subcategory: Identity testing

Karyotype, GTG-banding

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Chromosomal Anomalies
Test Type: Cytogenetic