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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75 Results

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

CPT1 deficiency

Category: Metabolic
Subcategory: Fatty Acid Oxidation Diseases
Test Type: Single Gene

CPT2 deficiency

Category: Metabolic
Subcategory: Fatty Acid Oxidation Diseases
Test Type: Single Gene

Fabry Disease

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

Fatty Acid Oxidation Diseases: Other

Category: Metabolic
Subcategory: Fatty Acid Oxidation Diseases
Test Type: Gene Panel

Galactose-1-Phosphate Uridyl Transferase Deficiency

Category: Metabolic
Subcategory: Galactose-1-Phosphate Uridyl Transferase Deficiency
Test Type: Single Gene

Galactosemia-Galactose-1-Phosphate Uridyl Transferase (GALT)

Category: Metabolic
Subcategory: Galactosemia
Test Type: Targeted Variant

Galactosemia: Other

Category: Metabolic
Subcategory: Galactosemia
Test Type: Gene Panel

GALT deficiency

Category: Metabolic
Subcategory: Galactosemia
Test Type: Single Gene