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

60 Results

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

SCID ADA

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

Single Gene test: DPYD

Category: Pharmacogenetics
Subcategory: Dihydropyrimidine dehydrogenase deficiency (DPYD)
Test Type: Targeted Variant

Single Gene test: Factor V Leiden

Category: Hematology
Subcategory: Thrombophilia (Factor V Leiden)
Test Type: Targeted Variant

Single Gene test: HFE

Category: Hematology
Subcategory: Hereditary Hemochromatosis
Test Type: Targeted Variant

Single Gene test: HLA-B*5701

Category: Pharmacogenetics
Subcategory: Abacavir hypersensitivity
Test Type: Targeted Variant

Single Gene test: MTHFR

Category: Hematology
Subcategory: Thrombosis
Test Type: Targeted Variant

Single Gene test: Prothrombin 20210

Category: Hematology
Subcategory: Thrombophilia (Factor II Prothrombin)
Test Type: Targeted Variant

Single Gene test: TPMT

Category: Pharmacogenetics
Subcategory: Thiopurine S-methyltransferase deficiency (TPMT)
Test Type: Targeted Variant