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

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

Pyruvate dehydrogenase complex deficiency

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

Rapid Aneuploidy Detection (RAD)

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

Rare Familial Mutations

Category: Genome-wide
Subcategory: Known Familial Variant

SCID ADA

Category: Immunity, Metabolic
Subcategory: Primary immune deficiencies
Test Type: Single Gene

Spinal muscular atrophy

Category: Neurogenetics
Subcategory: Spinal muscular atrophy
Test Type: Gene Panel

Succinic semialdehyde dehydrogenase deficiency

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

Thoracic aneurisms and aortic dissections

Category: Cardiogenetics
Subcategory: Thoracic aneurisms and aortic dissections
Test Type: Gene Panel