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

23 Results

Adult Mitochondrial Disease Nuclear Gene Panel

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

Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency

Category: Endocrinology
Subcategory: Congenital Adrenal Hyperplasia
Test Type: Single Gene

Congenital Adrenal Hyperplasia: Other

Category: Endocrinology
Subcategory: Congenital Adrenal Hyperplasia
Test Type: Gene Panel

Familial Hypercholesterolemia

Category: Endocrinology
Subcategory: Familial Hypercholesterolemia
Test Type: Gene Panel

Familial Hypercholesterolemia

Category: Endocrinology
Subcategory: Familial Hypercholesterolemia
Test Type: Gene Panel

Familial Hypercholesterolemia

Category: Endocrinology
Subcategory: Familial Hypercholesterolemia
Test Type: Gene Panel

Full mitochondrial nuclear gene panel

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

Hereditary Hyperparathyroidism

Category: Endocrinology
Subcategory: Hereditary Hyperparathyroidism
Test Type: Gene Panel

Hydroxyglutaric Aciduria

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

Mitochondrial Encephalopathy/Leigh Disease

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