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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122 Results

DICER-associated Syndrome

Category: Cancer
Subcategory: DICER-associated Syndrome
Test Type: Single Gene

DPYD Genotyping

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

Dysplastic Nevus Syndrome

Category: Cancer
Subcategory: Dysplastic Nevus Syndrome
Test Type: Gene Panel

Facioscapulohumeral Muscular Dystrophy

Category: Neurogenetics
Subcategory: Facioscapulohumeral Muscular Dystrophy
Test Type: Other

Factor II/Factor V

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

Factor V Leiden

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

Familial Adenomatous Polyposis Panel

Category: Cancer
Subcategory: Familial Adenomatous Polyposis
Test Type: Gene Panel

Familial Gastrointestinal Stromal Tumour

Category: Cancer
Subcategory: Familial Gastrointestinal Stromal (GIST)
Test Type: Gene Panel

Familial Isolated Pituitary Adenoma

Category: Cancer
Subcategory: Familial Isolated Pituitary Adenoma
Test Type: Single Gene

Familial Melanoma

Category: Cancer
Subcategory: Familial Melanoma
Test Type: Gene Panel