Ontario Genetic Test Directory

This directory lists genetic tests available in Ontario. For tumour testing, visit the Comprehensive Cancer Biomarker Testing Program

The information in this directory is intended for informational purposes only and may not reflect all recent updates. 

Please contact the providing laboratory directly to confirm availability of testing or whether any additional information is required (for example, requisitions or sample requirements). 

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