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

38 Results

Adult Mitochondrial Disease Nuclear Gene Panel

Category: Mitochondrial
Subcategory: Mitochondrial nuclear gene
Test Type: Gene Panel

Alpha Thalassemia

Category: Hematology
Subcategory: Alpha Thalassemia
Test Type: Gene Panel

Beta Thalassemia

Category: Hematology
Subcategory: Beta Thalassemia
Test Type: Gene Panel

Factor V Leiden

Category: Hematology
Subcategory: Thrombophilia (Factor V Leiden)
Test Type: Single Gene

Factor V Leiden

Category: Hematology
Subcategory: Thrombophilia (Factor V Leiden)
Test Type: Targeted Variant

Familial Hypercholesterolemia

Category: Endocrinology
Subcategory: Familial Hypercholesterolemia
Test Type: Gene Panel

FISH Analysis

Category: Chromosomal Anomalies
Subcategory: FISH: 22q11.21 Deletion Syndrome
Test Type: Cytogenetic

FISH Analysis - Cascade

Category: Chromosomal Anomalies
Subcategory: FISH- Cascade
Test Type: Cytogenetic

Galactose-1-Phosphate Uridyl Transferase Deficiency

Category: Metabolic
Subcategory: Galactose-1-Phosphate Uridyl Transferase Deficiency
Test Type: Single Gene

Gamma Polymerase Deficiency

Category: Metabolic
Subcategory: Gamma Polymerase Deficiency (POLG)
Test Type: Single Gene