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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633 Results

Gorlin Syndrome (Nevoid Basal Cell Carcinoma Syndrome)

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

GTP Cyclohydrolase-1 related disorders (GCH1)

Category: Neurogenetics
Subcategory: GTP Cyclohydrolase-1 related disorders
Test Type: Single Gene

Haemochromatosis

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

HCT Full Panel (76 Genes)

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

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

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

Hemochromatosis

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

Hemochromatosis

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

Hemochromatosis Genotype

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

Hemoglobin Variants

Category: Fertility/Reproductive, Hematology
Subcategory: Hemoglobin Diseases
Test Type: Gene Panel