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

163 Results

22q11.2 Deletion Syndrome

Category: Neurodevelopmental
Subcategory: 22q11.21 Deletion Syndrome
Test Type: Cytogenetic

Achondroplasia / Hypochondroplasia

Category: Skeletal/growth
Subcategory: Achondroplasia and Hypochondroplasia
Test Type: Gene Panel

Adult Mitochondrial Disease Nuclear Gene Panel

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

Alpha-1-Antitrypsin Deficiency

Category: Respiratory
Subcategory: Alpha-1-Antitrypsin Deficiency
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

Category: Neurodevelopmental
Subcategory: Angelman Syndrome
Test Type: Single Gene

Angelman Syndrome - UPD

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

Ashkenazi Jewish panel

Category: Fertility/Reproductive
Subcategory: Ashkenazi Jewish Screening panel
Test Type: Targeted Variant