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

107 Results

SCID ADA

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

Sessile Serrated Polyposis Cancer Syndrome

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

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

Soft Tissue Sarcoma

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

Succinic semialdehyde dehydrogenase deficiency

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

Tuberous Sclerosis

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

Tyrosinemia

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

Tyrosinemia: Elevated Succinylacetone

Category: Metabolic
Subcategory: Tyrosinemia
Test Type: Gene Panel

Tyrosinemia: Elevated Tyrosine

Category: Metabolic
Subcategory: Tyrosinemia
Test Type: Gene Panel

Uniparental Disomy (UPD)

Category: Chromosomal Anomalies, Neurodevelopmental
Subcategory: Uniparental Disomy
Test Type: Cytogenetic