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.

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60 Results

Full mitochondrial nuclear gene panel

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

Galactosemia: Other

Category: Metabolic
Subcategory: Galactosemia
Test Type: Gene Panel

GALT deficiency

Category: Metabolic
Subcategory: Galactosemia
Test Type: Single Gene

GAMT deficiency

Category: Metabolic
Subcategory: Organic Acid Disorders
Test Type: Single Gene

Glutaric Aciduria Type 1

Category: Metabolic
Subcategory: Organic Acid Disorders
Test Type: Single Gene

Hearing Loss, Non-Syndromic (GJB2 (including GJB6 del) and SLC26A4)

Category: Audiology
Subcategory: Non-Syndromic Hearing Loss
Test Type: Gene Panel

Homocystinuria

Category: Metabolic
Subcategory: Amino Acid Disorders
Test Type: Gene Panel

Homocystinuria: Hypermethioninemia

Category: Metabolic
Subcategory: Amino Acid Disorders
Test Type: Gene Panel

Homocystinuria: Hypomethioninemia

Category: Metabolic
Subcategory: Amino Acid Disorders
Test Type: Gene Panel

Hydroxyglutaric Aciduria

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