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

34 Results

22q11.2 Deletion Syndrome

Category: Neurodevelopmental
Subcategory: 22q11.21 Deletion Syndrome
Test Type: Cytogenetic

Angelman Syndrome

Category: Neurodevelopmental
Subcategory: Angelman/Prader Willi Syndrome
Test Type: Single Gene

Angelman Syndrome

Category: Neurodevelopmental
Subcategory: Angelman Syndrome
Test Type: Single Gene

Bone Marrow Transplant Testing (BMT)

Category: Multipurpose
Subcategory: Bone Marrow Transplant Testing (BMT)

Establish/Expand Cell line, Bank Cells and Sendout

Category: Multipurpose
Subcategory: Cell Line

Fragile X-associated Premature Ovarian Insufficiency (FXPOI)

Category: Fertility/Reproductive, Neurodevelopmental
Subcategory: Fragile X Syndrome
Test Type: Single Gene

Fragile X-associated tremor/ataxia syndrome

Category: Neurodevelopmental, Neurogenetics
Subcategory: Fragile X Syndrome
Test Type: Single Gene

Fragile X E (FMR2 gene)

Category: Neurodevelopmental
Subcategory: Fragile X Syndrome
Test Type: Single Gene

Fragile X (FMR1 gene)

Category: Neurodevelopmental
Subcategory: Fragile X Syndrome
Test Type: Single Gene

Fragile X (FMR1 gene)

Category: Neurodevelopmental
Subcategory: Fragile X Syndrome
Test Type: Single Gene