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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102 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

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

Spinal muscular atrophy

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

Thoracic aneurisms and aortic dissections

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

Tuberous Sclerosis

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

Uniparental Disomy (UPD)

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

Von Hippel-Lindau Syndrome

Category: Cancer
Subcategory: Von Hippel-Lindau Syndrome
Test Type: Single Gene