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

122 Results

Retinoblastoma

Category: Cancer, Ophthalmology
Subcategory: Retinoblastoma
Test Type: Single Gene

Rhabdoid Predisposition Syndrome

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

Schwannomatosis

Subcategory: Schwannomatosis
Test Type: Gene Panel

Sessile Serrated Polyposis Cancer Syndrome

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

Sexing PCR

Category: Multipurpose
Subcategory: Sexing PCR

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

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

Von Hippel-Lindau Syndrome

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