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

30 Results

Adenosine deaminase deficiency

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

Arginase Deficiency

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

Batten Disease

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

Biotinidase Deficiency (BTD gene)

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

Constitutional FISH: 22q11.21 Deletion Syndrome

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

Constitutional FISH: Disorders of sex development

Category: Chromosomal Anomalies
Subcategory: FISH: Disorders of Sex Development
Test Type: Cytogenetic

Constitutional FISH: Kallman Syndrome

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

Constitutional FISH: Miller-Dieker Syndrome

Category: Chromosomal Anomalies
Subcategory: FISH: Miller-Dieker Syndrome
Test Type: Cytogenetic

Constitutional FISH: Prader Willi/Angelman Syndrome

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

Constitutional FISH: Smith-Magenis Syndrome

Category: Chromosomal Anomalies
Subcategory: FISH: Smith-Magenis Syndrome
Test Type: Cytogenetic