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

147 Results

FISH: Williams syndrome

Category: Chromosomal Anomalies
Subcategory: FISH: Williams Syndrome
Test Type: Cytogenetic

FISH: Wolf-Hirschhorn syndrome

Category: Chromosomal Anomalies
Subcategory: FISH: Wolf-Hirschhorn Syndrome
Test Type: Cytogenetic

Focal Epilepsy Panel

Category: Neurogenetics
Subcategory: Focal Epilepsy
Test Type: Gene Panel

Fragile X (FMR1 gene)

Category: Neurodevelopmental
Subcategory: Fragile X Syndrome
Test Type: Single Gene

Galactosemia-Galactose-1-Phosphate Uridyl Transferase (GALT)

Category: Metabolic
Subcategory: Galactosemia
Test Type: Targeted Variant

Glutaric Aciduria type I (GCDH gene)

Category: Metabolic
Subcategory: Glutaric Aciduria type I
Test Type: Single Gene

GTP Cyclohydrolase-1 related disorders (GCH1)

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

Hemochromatosis

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

Hereditary Breast/Ovarian/Prostate Cancer Panel

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