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). 

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119 Results

Actionable Gene Epilepsy Panel

Category: Neurogenetics
Subcategory: Actionable Epilepsy
Test Type: Gene Panel

Adenosine deaminase deficiency

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

Arginase Deficiency

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

Ataxia Telangiectasia /Nijmegen Breakage Syndrome

Category: Neurogenetics
Subcategory: Ataxia Telangiectasia (Nijmegen Breakage Syndrome)
Test Type: Cytogenetic

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

Becker Muscular Dystrophy

Category: Neurogenetics
Subcategory: Becker Muscular Dystrophy
Test Type: Single Gene

Biotinidase Deficiency (BTD gene)

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

Brain Malformation Epilepsy Panel

Category: Neurogenetics
Subcategory: Brain Malformation Epilepsy
Test Type: Gene Panel

C9orf72-related disorders

Category: Neurogenetics
Subcategory: C9orf72-related disorders
Test Type: Single Gene