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

113 Results

Neurofibromatosis type 1

Category: Cancer
Subcategory: Neurofibromatosis type 1
Test Type: Single Gene

Nevoid Basal Cell Carcinoma Syndrome/Gorlin Syndrome

Category: Cancer
Subcategory: Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)
Test Type: Gene Panel

NGS HCT Panel with Custom Manifests (tests with multiple indications)

Category: Cancer
Subcategory: Hereditary Comprehensive Cancer

Nijmegen Breakage Syndrome

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

Peutz-Jeghers Syndrome

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

Phenylketonuria

Category: Metabolic
Subcategory: Amino Acid Disorders

Phenylketonuria: Biopterin deficiencies

Category: Metabolic
Subcategory: Amino Acid Disorders
Test Type: Gene Panel

Phenylketonuria: PAH deficiency

Category: Metabolic
Subcategory: Amino Acid Disorders
Test Type: Single Gene

PKD Full Analysis

Category: Renal
Subcategory: Polycystic Kidney Disease
Test Type: Gene Panel

PKD1 Deletion/Duplication only

Category: Renal
Subcategory: Polycystic Kidney Disease
Test Type: Single Gene