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

127 Results

Genetics - microarray-prenatal, whole genome

Category: Chromosomal Anomalies
Subcategory: Microarray: Microduplication/deletion Syndrome- Prenatal
Test Type: Cytogenetic

Glutaric Aciduria Type 1

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

Gorlin Syndrome (Nevoid Basal Cell Carcinoma Syndrome)

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

Haemochromatosis

Category: Hematology
Subcategory: Hereditary Hemochromatosis
Test Type: Targeted Variant

Hearing Loss, Non-Syndromic (GJB2 (including GJB6 del) and SLC26A4)

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

Hereditary Breast/Ovarian/Prostate Cancer Panel

Category: Cancer
Subcategory: Hereditary Breast, Ovarian, Prostate Cancer
Test Type: Gene Panel

Hereditary Breast/Ovarian/Prostate/GI Cancer

Category: Cancer
Subcategory: Hereditary Breast, Ovarian, Prostate, GI Cancer
Test Type: Gene Panel

Hereditary Endometrial Cancer Panel

Category: Cancer
Subcategory: Hereditary Endometrial Cancer
Test Type: Gene Panel

Hereditary GI (Lynch syndrome, Gastric, Pancreas, Polyposis) Cancer Panel

Category: Cancer
Subcategory: Hereditary Gastrointestinal Cancer
Test Type: Gene Panel

Hereditary Hyperparathyroidism

Category: Cancer
Subcategory: Hereditary Hyperparathyroidism
Test Type: Gene Panel