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

Hereditary Cancer Panel: BRCA1/BRCA2 Ashkenazi Jewish mutations panel

Category: Cancer
Subcategory: Ashkenazi Jewish Panel
Test Type: Targeted Variant

Hereditary Cancer Panel: Hereditary Breast/ Ovarian/ Prostate (HBOPC)

Category: Cancer
Subcategory: Breast, Ovarian, Prostate
Test Type: Gene Panel

Hereditary Cancer Panel: Hereditary Pancreatic Cancer

Category: Cancer
Subcategory: Hereditary Pancreatic Cancer (Adenocarcinoma)
Test Type: Gene Panel

Hereditary Hemochromatosis

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

Homocystinuria

Category: Metabolic
Subcategory: Amino Acid Disorders
Test Type: Gene Panel

Homocystinuria: Hypermethioninemia

Category: Metabolic
Subcategory: Amino Acid Disorders
Test Type: Gene Panel

Homocystinuria: Hypomethioninemia

Category: Metabolic
Subcategory: Amino Acid Disorders
Test Type: Gene Panel

Hydroxyglutaric Aciduria

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

Isobutyryl-CoA dehydrogenase deficiency

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

Isovaleric acidemia

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