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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85 Results

Adult Mitochondrial Disease Nuclear Gene Panel

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

Aicardi-Goutieres syndrome

Category: Immunity
Subcategory: Primary immune deficiencies
Test Type: Gene Panel

Alpha Thalassemia

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

b-ketothiolase deficiency

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

Beta Thalassemia

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

CACT deficiency

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

Carnitine Uptake Deficiency

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

Chronic Granulomatous Disease

Category: Immunity
Subcategory: Primary immune deficiencies
Test Type: Gene Panel

Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency

Category: Endocrinology
Subcategory: Congenital Adrenal Hyperplasia
Test Type: Single Gene

Congenital Adrenal Hyperplasia: Other

Category: Endocrinology
Subcategory: Congenital Adrenal Hyperplasia
Test Type: Gene Panel