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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97 Results

Birt-Hogg-Dube Syndrome

Category: Cancer
Subcategory: Birt-Hogg-Dube Syndrome
Test Type: Single Gene

Brugada Syndrome Panel

Category: Cardiogenetics
Subcategory: Brugada Syndrome
Test Type: Single Gene

Carney Complex

Category: Cancer
Subcategory: Carney Complex
Test Type: Single Gene

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel

Category: Cardiogenetics
Subcategory: Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
Test Type: Gene Panel

Chromosome analysis

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Chromosomal Anomalies

Comprehensive Cancer Panel

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

DICER-associated Syndrome

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

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