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

197 Results

Adenosine deaminase deficiency

Category: Immunity, Metabolic
Subcategory: Adenosine Deaminase Deficiency (ADA)
Test Type: Single Gene

Alpha Thalassemia

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

Aneuploidy Testing - Fetal Demise

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Aneuploidy Studies- Perinatal
Test Type: Other

Aneuploidy Testing - Post Natal

Category: Chromosomal Anomalies
Subcategory: Aneuploidy Studies
Test Type: Other

Angelman Syndrome - UPD

Category: Chromosomal Anomalies
Subcategory: Uniparental Disomy: Angelman Syndrome/Prader Willi Syndrome
Test Type: Cytogenetic

Arginase Deficiency

Category: Metabolic
Subcategory: Arginase Deficiency
Test Type: Single Gene

b-ketothiolase deficiency

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

Batten Disease

Category: Metabolic
Subcategory: Batten Disease (Neuronal Ceroid Lipofuscinoses)
Test Type: Gene Panel

Beta Thalassemia

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

Biotinidase Deficiency (BTD gene)

Category: Metabolic
Subcategory: Biotinidase Deficiency
Test Type: Single Gene