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.

Displaying Results

13 Results

Bloom Syndrome

Category: Hematology
Subcategory: Bloom Syndrome
Test Type: Cytogenetic, Targeted Variant

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

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

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

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

Fanconi Anemia (DEB, MMC)

Category: Hematology
Subcategory: Fanconi Anemia
Test Type: Cytogenetic

Fanconi Anemia Group C

Category: Hematology
Subcategory: Fanconi Anemia
Test Type: Targeted Variant

Hereditary Hearing Loss: Stickler Syndrome

Category: Audiology, Connective Tissue
Subcategory: Stickler Syndrome
Test Type: Gene Panel

Hereditary Hemorrhagic Telangiectasia: ACVRL1, ENG

Category: Hematology
Subcategory: Hereditary Hemorrhagic Telangiectasia (HHT)
Test Type: Gene Panel