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

21 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

Cystic Fibrosis

Category: Fertility/Reproductive, Respiratory
Subcategory: Cystic Fibrosis
Test Type: Targeted Variant

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

Karyotype

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Chromosomal Anomalies

Lesch-Nyhan syndrome

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