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

179 Results

Peutz-Jeghers Syndrome

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

Prader-Willi Syndrome

Category: Neurodevelopmental
Subcategory: Prader Willi syndrome
Test Type: Single Gene

Prader-Willi Syndrome - UPD

Category: Chromosomal Anomalies
Subcategory: Uniparental Disomy: Angelman Syndrome/Prader Willi Syndrome
Test Type: Cytogenetic

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

Rapid FISH: Ambiguous genitalia

Category: Chromosomal Anomalies
Subcategory: FISH: Disorders of Sex Development
Test Type: Cytogenetic

Rapid FISH: Bone Marrow Transplant

Category: Chromosomal Anomalies
Subcategory: FISH: Bone Marrow Transplant
Test Type: Cytogenetic

Rapid FISH: Trisomy 13

Category: Chromosomal Anomalies
Subcategory: Aneuploidy Studies
Test Type: Cytogenetic