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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152 Results

Progressive Myoclonic Epilepsy Panel

Category: Neurogenetics
Subcategory: Progressive Myoclonic Epilepsy
Test Type: Gene Panel

Propionic / Methylmalonic acidemias

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

Propionic / Methylmalonic acidemias: Isolated MMA

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

Propionic / Methylmalonic acidemias: Isolated Propionic Acidemia

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

Propionic / Methylmalonic acidemias: MMA and homocysteinemia

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

Prothrombin Thrombophilia

Category: Hematology
Subcategory: Thrombophilia (Factor II Prothrombin)

PTEN Hamartoma Tumour Syndrome

Category: Cancer
Subcategory: PTEN Hamartoma Tumour Syndrome
Test Type: Single Gene

Pyruvate dehydrogenase complex deficiency

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

Rapid Aneuploidy Detection

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Aneuploidy Studies
Test Type: Other

Rare Polyposis

Category: Cancer
Subcategory: Rare Polyposis Genes
Test Type: Gene Panel