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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102 Results

Lynch Syndrome

Category: Cancer
Subcategory: Lynch Syndrome
Test Type: Gene Panel

MADD/Glutaric aciduria type 2

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

Malignant Hyperthermia

Category: Neurogenetics, Pharmacogenetics
Subcategory: Malignant Hyperthermia
Test Type: Gene Panel

Maple Syrup Urine Disease

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

MCAD deficiency

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

Mitochondrial Encephalopathy/Leigh Disease

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

MLH1 germline methylation

Category: Cancer
Subcategory: Lynch Syndrome
Test Type: Single Gene

mtDNA depletion and deletion

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

MTHFR

Category: Hematology
Subcategory: Thrombosis
Test Type: Targeted Variant

Mucopolysaccharidosis type 1

Category: Metabolic
Subcategory: Mucopolysaccharidosis type 1
Test Type: Single Gene