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.

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134 Results

Molar Pregnancy

Category: Fertility/Reproductive
Subcategory: Molar Pregnancy
Test Type: Other

Multiple Endocrine Neoplasia Type 2

Category: Cancer
Subcategory: Multiple Endocrine Neoplasia Type 2 (MEN Type 2)
Test Type: Single Gene

Multiple Endocrine Neoplasia Type 2

Category: Cancer
Subcategory: Multiple Endocrine Neoplasia Type 2 (MEN Type 2)
Test Type: Single Gene

Neurofibromatosis type 1

Category: Cancer
Subcategory: Neurofibromatosis type 1
Test Type: Single Gene

Neurofibromatosis type 1

Category: Cancer
Subcategory: Neurofibromatosis type 1
Test Type: Single Gene

Nevoid Basal Cell Carcinoma Syndrome/Gorlin Syndrome

Category: Cancer
Subcategory: Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)
Test Type: Gene Panel

NGS HCT Panel with Custom Manifests (tests with multiple indications)

Category: Cancer
Subcategory: Hereditary Comprehensive Cancer

Nijmegen Breakage Syndrome

Category: Cancer
Subcategory: Nijmegen Breakage Syndrome
Test Type: Single Gene

Nijmegen Breakage Syndrome

Category: Cancer
Subcategory: Nijmegen Breakage Syndrome
Test Type: Single Gene

Oculopharyngeal muscular dystrophy (OPMD)

Category: Neurogenetics
Subcategory: Oculopharyngeal muscular dystrophy (OPMD)
Test Type: Single Gene