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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179 Results

Cystic Fibrosis

Category: Fertility/Reproductive, Respiratory
Subcategory: Cystic Fibrosis
Test Type: Targeted Variant

Cystinosis

Category: Renal
Subcategory: Cystinosis
Test Type: Single Gene

DICER-associated Syndrome

Category: Cancer
Subcategory: DICER-associated Syndrome
Test Type: Single Gene

DPYD Genotyping

Category: Pharmacogenetics
Subcategory: Dihydropyrimidine dehydrogenase deficiency (DPYD)
Test Type: Targeted Variant

Duchenne Muscular Dystrophy

Category: Neurogenetics
Subcategory: Duchenne Muscular Dystrophy
Test Type: Single Gene

Dysplastic Nevus Syndrome

Category: Cancer
Subcategory: Dysplastic Nevus Syndrome
Test Type: Gene Panel

Early Infantile Epilepsy Panel

Category: Neurogenetics
Subcategory: Early Infantile Epilepsy
Test Type: Gene Panel

Establish/Expand Cell line, Bank Cells and Sendout

Category: Multipurpose
Subcategory: Cell Line

Fabry Disease

Category: Metabolic
Subcategory: Fabry Disease
Test Type: Single Gene

Factor V Leiden Thrombophilia

Category: Hematology
Subcategory: Thrombophilia (Factor V Leiden)
Test Type: Targeted Variant