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

32 Results

Adult Mitochondrial Disease Nuclear Gene Panel

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

Amyloidosis

Category: Renal
Subcategory: Amyloidosis
Test Type: Single Gene

Amyloidosis

Category: Renal
Subcategory: Amyloidosis
Test Type: Single Gene

Amyloidosis panel

Category: Renal
Subcategory: Amyloidosis
Test Type: Gene Panel

Autosomal dominant PKD Analysis

Category: Renal
Subcategory: Polycystic Kidney Disease
Test Type: Gene Panel

Autosomal recessive PKD Analysis

Category: Renal
Subcategory: Polycystic Kidney Disease
Test Type: Single Gene

Cystinosis

Category: Renal
Subcategory: Cystinosis
Test Type: Single Gene

Full mitochondrial nuclear gene panel

Category: Mitochondrial
Subcategory: Mitochondrial nuclear gene
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