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

45 Results

Friedreich's Ataxia (FRDA)

Category: Neurogenetics
Subcategory: Friedreich's Ataxia (FRDA)
Test Type: Single Gene

GTP Cyclohydrolase-1 related disorders (GCH1)

Category: Neurogenetics
Subcategory: GTP Cyclohydrolase-1 related disorders
Test Type: Single Gene

Hereditary sensory neuropathy type IA

Category: Neurogenetics
Subcategory: Hereditary Sensory Neuropathy
Test Type: Single Gene

Hereditary Spastic Paraplegia: Comprehensive

Category: Neurogenetics
Subcategory: Hereditary Spastic Paraplegia
Test Type: Gene Panel

Huntington Disease (HD)

Category: Neurogenetics
Subcategory: Huntington Disease (HD)
Test Type: Single Gene

Hyperkalemic periodic paralysis, type 2

Category: Neurogenetics
Subcategory: Hyperkalemic periodic paralysis
Test Type: Single Gene

Malignant Hyperthermia

Category: Neurogenetics, Pharmacogenetics
Subcategory: Malignant Hyperthermia
Test Type: Gene Panel

Myotonic dystrophy type 1

Category: Neurogenetics
Subcategory: Myotonic dystrophy type 1
Test Type: Single Gene

Myotonic dystrophy type 2

Category: Neurogenetics
Subcategory: Myotonic dystrophy type 2
Test Type: Single Gene

Oculopharyngeal muscular dystrophy

Category: Neurogenetics
Subcategory: Oculopharyngeal muscular dystrophy (OPMD)
Test Type: Single Gene