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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100 Results

Nijmegen Breakage Syndrome

Category: Cancer
Subcategory: Nijmegen Breakage Syndrome
Test Type: Single Gene

Non-Syndromic Recessive Deafness

Category: Audiology
Subcategory: Non-Syndromic Hearing Loss
Test Type: Gene Panel

Ornithine transcarbamylase deficiency

Category: Metabolic
Subcategory: Ornithine transcarbamylase deficiency
Test Type: Single Gene

Peutz-Jeghers Syndrome

Category: Cancer
Subcategory: Peutz-Jeghers Syndrome
Test Type: Single Gene

Progressive Myoclonic Epilepsy Panel

Category: Neurogenetics
Subcategory: Progressive Myoclonic Epilepsy
Test Type: Gene Panel

Prothrombin Thrombophilia

Category: Hematology
Subcategory: Thrombophilia (Factor II Prothrombin)

PTEN Hamartoma Tumour Syndrome

Category: Cancer
Subcategory: PTEN Hamartoma Tumour Syndrome
Test Type: Single Gene

Rapid Aneuploidy Detection

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Aneuploidy Studies
Test Type: Other

Rare Polyposis

Category: Cancer
Subcategory: Rare Polyposis Genes
Test Type: Gene Panel

Retinoblastoma

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