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.

Displaying Results

6 Results

Galactose-1-Phosphate Uridyl Transferase Deficiency

Category: Metabolic
Subcategory: Galactose-1-Phosphate Uridyl Transferase Deficiency
Test Type: Single Gene

Gamma Polymerase Deficiency

Category: Metabolic
Subcategory: Gamma Polymerase Deficiency (POLG)
Test Type: Single Gene

Medium Chain Acyl-Coenzyme Deficiency

Category: Metabolic
Subcategory: Medium Chain Acyl-Coenzyme Deficiency (MCAD Deficiency)
Test Type: Single Gene

Metachromatic Leukodystrophy

Category: Metabolic
Subcategory: Metachromatic Leukodystrophy
Test Type: Single Gene

Smith-Lemli-Opitz Syndrome

Category: Metabolic
Subcategory: Smith-Lemli-Opitz Syndrome
Test Type: Single Gene

Very Long Chain acyl-CoA dehydrogenase Deficiency

Category: Metabolic
Subcategory: Very Long Chain acyl-CoA dehydrogenase Deficiency
Test Type: Single Gene