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

56 Results

Nijmegen Breakage Syndrome

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

Pancreatic Adenocarcinoma

Category: Cancer
Subcategory: Hereditary Pancreatic Cancer (Adenocarcinoma)
Test Type: Gene Panel

Peutz-Jeghers Syndrome

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

Polyposis

Category: Cancer
Subcategory: Hereditary Polyposis Syndrome
Test Type: Gene Panel

Prothrombin Mutation G20210A

Category: Hematology
Subcategory: Thrombophilia (Factor II Prothrombin)
Test Type: Targeted Variant

PTEN Hamartoma Tumour Syndrome

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

Rare Polyposis Genes

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

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

Category: Cancer
Subcategory: Schwannomatosis
Test Type: Gene Panel