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

133 Results

Hereditary Hearing Loss: Usher Syndrome

Category: Audiology
Subcategory: Usher Syndrome
Test Type: Gene Panel

Hereditary Hemorrhagic Telangiectasia: ACVRL1, ENG

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

Hereditary Hemorrhagic Telangiectasia: SMAD4 Sequencing

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

Hereditary Spastic Paraplegia: Comprehensive

Category: Neurogenetics
Subcategory: Hereditary Spastic Paraplegia
Test Type: Gene Panel

Homocystinuria

Category: Metabolic
Subcategory: Amino Acid Disorders
Test Type: Gene Panel

Homocystinuria: Hypermethioninemia

Category: Metabolic
Subcategory: Amino Acid Disorders
Test Type: Gene Panel

Homocystinuria: Hypomethioninemia

Category: Metabolic
Subcategory: Amino Acid Disorders
Test Type: Gene Panel

Hydroxyglutaric Aciduria

Category: Mitochondrial
Subcategory: Mitochondrial nuclear gene
Test Type: Gene Panel

Identity/Zygosity Testing

Category: Multipurpose
Subcategory: Identity testing

Isobutyryl-CoA dehydrogenase deficiency

Category: Metabolic
Subcategory: Organic Acid Disorders
Test Type: Single Gene