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.

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75 Results

Isovaleric acidemia

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

LCHAD/MTP deficiency

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

Lesch-Nyhan syndrome

Category: Metabolic
Subcategory: Lesch-Nyhan syndrome
Test Type: Single Gene

Loeys-Dietz Syndrome

Category: Cardiogenetics, Connective Tissue
Subcategory: Loeys-Dietz Syndrome
Test Type: Gene Panel

Lysosomal Storage Disorders

Category: Metabolic
Subcategory: Lysosomal Storage Disorders
Test Type: Gene Panel

MADD/Glutaric aciduria type 2

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

Maple Syrup Urine Disease

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

Maple Syrup Urine Disease (BCKDHA)

Category: Metabolic
Subcategory: Maple Syrup Urine Disease
Test Type: Single Gene

Marfan syndrome

Category: Cardiogenetics, Connective Tissue
Subcategory: Marfan Syndrome
Test Type: Single Gene

MCAD deficiency

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