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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83 Results

Rhabdoid Predisposition Syndrome

Category: Cancer
Subcategory: Rhabdoid Tumor Predisposition Syndrome (RTPS)
Test Type: Gene Panel

Schwannomatosis

Category: Cancer
Subcategory: Schwannomatosis
Test Type: Gene Panel

Sessile Serrated Polyposis Cancer Syndrome

Category: Cancer
Subcategory: Sessile Serrated Polyposis Cancer Syndrome
Test Type: Single Gene

Single Gene tests (Hemoglobinopathies)

Category: Hematology
Subcategory: Hemoglobin Diseases
Test Type: Gene Panel

Single Genetests (HFE)

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

Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)

Category: Cancer
Subcategory: Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
Test Type: Single Gene

Smith-Lemli-Opitz Syndrome

Category: Metabolic
Subcategory: Smith-Lemli-Opitz Syndrome
Test Type: Single Gene

Soft Tissue Sarcoma

Category: Cancer
Subcategory: Hereditary Soft Tissue Sarcomas
Test Type: Gene Panel

TPMT Gene Mutation

Category: Pharmacogenetics
Subcategory: Thiopurine S-methyltransferase deficiency (TPMT)
Test Type: Single Gene

Tuberous Sclerosis

Category: Cancer
Subcategory: Tuberous Sclerosis
Test Type: Gene Panel