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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101 Results

Microarray Follow-up qPCR of CNV's

Category: Chromosomal Anomalies
Subcategory: Microarray Follow-up

Mitochondrial Encephalopathy/Leigh Disease

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

mtDNA depletion and deletion

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

Mucopolysaccharidosis type 1

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

Multiple Carboxylase Deficiency

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

Multiple carboxylase Deficiency: Biotinidase Deficiency

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

Multiple carboxylase deficiency: Other

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

Myotonic dystrophy type 1

Category: Neurogenetics
Subcategory: Myotonic dystrophy type 1
Test Type: Single Gene

Myotonic dystrophy type 2

Category: Neurogenetics
Subcategory: Myotonic dystrophy type 2
Test Type: Single Gene

Oculopharyngeal muscular dystrophy

Category: Neurogenetics
Subcategory: Oculopharyngeal muscular dystrophy (OPMD)
Test Type: Single Gene