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

18 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

Chondrodysplasia punctata 1

Category: Skeletal/growth
Subcategory: Chondrodysplasia punctata 1
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

Lesch-Nyhan syndrome

Category: Metabolic
Subcategory: Lesch-Nyhan syndrome
Test Type: Single Gene

Lysosomal Storage Disorders

Category: Metabolic
Subcategory: Lysosomal Storage Disorders
Test Type: Gene Panel