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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179 Results

Charcot-Marie-Tooth Gene Panels

Category: Neurogenetics
Subcategory: Charcot-Marie-Tooth disease
Test Type: Gene Panel

Childhood Onset Epilepsy Panel

Category: Neurogenetics
Subcategory: Childhood onset Epilepsy
Test Type: Gene Panel

Chondrodysplasia punctata 1

Category: Skeletal/growth
Subcategory: Chondrodysplasia punctata 1
Test Type: Single Gene

Coagulation Panel (Factor II, Factor V, and MTHFR)

Category: Hematology
Subcategory: Coagulation Panel
Test Type: Gene Panel, Targeted Variant

Comprehensive Cancer Panel (Germline)

Category: Cancer
Subcategory: Hereditary Comprehensive Cancer

Comprehensive Epilepsy Panel

Category: Neurogenetics
Subcategory: Epilepsy
Test Type: Gene Panel

Congenital Muscular Dystrophy

Category: Neurogenetics
Subcategory: Congenital Muscular Dystrophy
Test Type: Gene Panel

Connective Tissue Disease: Bone Involvement Panel

Category: Connective Tissue
Subcategory: Bone Involvement
Test Type: Gene Panel

Connective Tissue Disease: Ehlers-Danlos Syndrome Panel

Category: Cardiogenetics, Connective Tissue
Subcategory: Ehlers-Danlos Syndrome
Test Type: Gene Panel

Connective Tissue Disease: Osteogenesis Imperfecta Panel

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