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

57 Results

PKHD1 Sequencing only

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

Progressive Myoclonic Epilepsy Panel

Category: Neurogenetics
Subcategory: Progressive Myoclonic Epilepsy
Test Type: Gene Panel

Renal Disease: atypical Hemolytic Uremic Syndrome / C3 glomerulonephritis (aHUS/C3G)

Category: Renal
Subcategory: atypical Hemolytic Uremic Syndrome
Test Type: Gene Panel

Renal Disease: Focal Segmental Glomerulonephritis Syndrome (FSGS) and membranous nephropathies

Category: Renal
Subcategory: Focal Segmental Glomerulonephritis Syndrome (FSGS)
Test Type: Gene Panel

Spinal and bulbar muscular atrophy (AR gene)

Category: Neurogenetics
Subcategory: Spinal and Bulbar Muscular Atrophy (SBMA)
Test Type: Single Gene

Spinal and Bulbar Muscular Atrophy (SBMA)

Category: Neurogenetics
Subcategory: Spinal and Bulbar Muscular Atrophy (SBMA)
Test Type: Single Gene

Spinal muscular atrophy

Category: Neurogenetics
Subcategory: Spinal muscular atrophy
Test Type: Gene Panel

Spinal Muscular Atrophy

Category: Neurogenetics
Subcategory: Spinal Muscular Atrophy
Test Type: Gene Panel

Spinocerebellar Ataxia panel (SCA)

Category: Neurogenetics
Subcategory: Spinocerebellar Ataxia (SCA)
Test Type: Gene Panel

Spinocerebellar Ataxia type 1 (SCA1)

Category: Neurogenetics
Subcategory: Spinocerebellar Ataxia (SCA)
Test Type: Single Gene