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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Connective Tissue Disease: Osteogenesis Imperfecta Panel

Category: Connective Tissue
Subcategory: Osteogenesis Imperfecta
Test Type: Gene Panel

Connective Tissue Disease: Osteopetrosis and disorders of increased bone density Panel

Category: Connective Tissue
Subcategory: Osteopetrosis and disorders of increased bone density
Test Type: Gene Panel

Craniosynostosis Molecular Analysis

Category: Skeletal/growth
Subcategory: Craniosynostosis
Test Type: Gene Panel

Cystic Fibrosis

Category: Respiratory
Subcategory: Cystic Fibrosis
Test Type: Single Gene

Duchenne Muscular Dystrophy

Category: Neurogenetics
Subcategory: Duchenne Muscular Dystrophy
Test Type: Single Gene

Establish/Expand Cell line, Bank Cells and Sendout

Category: Multipurpose
Subcategory: Cell Line

Fabry Disease

Category: Metabolic
Subcategory: Fabry Disease
Test Type: Single Gene

Factor V Leiden

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

Familial Dysautonomia

Category: Neurogenetics
Subcategory: Familial Dysautonomia
Test Type: Targeted Variant

Fanconi Anemia (DEB, MMC)

Category: Hematology
Subcategory: Fanconi Anemia
Test Type: Cytogenetic