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

112 Results

Adenosine deaminase deficiency

Category: Immunity, Metabolic
Subcategory: Adenosine Deaminase Deficiency (ADA)
Test Type: Single Gene

Alpha-1-Antitrypsin Deficiency

Category: Respiratory
Subcategory: Alpha-1-Antitrypsin Deficiency
Test Type: Single Gene

Alpha Thalassemia

Category: Hematology
Subcategory: Alpha Thalassemia
Test Type: Gene Panel

Arginase Deficiency

Category: Metabolic
Subcategory: Arginase Deficiency
Test Type: Single Gene

b-ketothiolase deficiency

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

Batten Disease

Category: Metabolic
Subcategory: Batten Disease (Neuronal Ceroid Lipofuscinoses)
Test Type: Gene Panel

Beta Thalassemia

Category: Hematology
Subcategory: Beta Thalassemia
Test Type: Gene Panel

Biotinidase Deficiency (BTD gene)

Category: Metabolic
Subcategory: Biotinidase Deficiency
Test Type: Single Gene

Bloom Syndrome

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

CACT deficiency

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