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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100 Results

Identity testing

Category: Multipurpose
Subcategory: Identity testing

Karyotype

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Chromosomal Anomalies

Lesch-Nyhan syndrome

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

Li-Fraumeni Syndrome

Category: Cancer
Subcategory: Li-Fraumeni Syndrome
Test Type: Single Gene

Lysosomal Storage Disorders

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

Maple Syrup Urine Disease (BCKDHA)

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

Maternal Cell Contamination (MCC)

Category: Multipurpose
Subcategory: Maternal cell contamination

MECP2 - Rett Syndrome

Category: Neurodevelopmental
Subcategory: Rett Syndrome
Test Type: Single Gene

Medium Chain Acyl CoA Dehydrogenase Deficiency (MCAD)

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

Metachromatic Leukodystrophy

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