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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78 Results

Li-Fraumeni Syndrome

Category: Cancer
Subcategory: Li-Fraumeni Syndrome
Test Type: Single Gene

Lynch Syndrome

Category: Cancer
Subcategory: Lynch Syndrome
Test Type: Gene Panel

Malignant Hyperthermia

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

Medium Chain Acyl-Coenzyme Deficiency

Category: Metabolic
Subcategory: Medium Chain Acyl-Coenzyme Deficiency (MCAD Deficiency)
Test Type: Single Gene

Metachromatic Leukodystrophy

Category: Metabolic
Subcategory: Metachromatic Leukodystrophy
Test Type: Single Gene

Mitochondrial Genome Panel

Category: Mitochondrial
Subcategory: Mitochondrial Genome
Test Type: Gene Panel

MLH1 germline methylation

Category: Cancer
Subcategory: Lynch Syndrome
Test Type: Single Gene

MTHFR

Category: Hematology
Subcategory: Thrombosis
Test Type: Targeted Variant

Multiple Endocrine Neoplasia Type 1

Category: Cancer
Subcategory: Multiple Endocrine Neoplasia Type 1 (MEN Type 1)
Test Type: Gene Panel

Multiple Endocrine Neoplasia Type 2

Category: Cancer
Subcategory: Multiple Endocrine Neoplasia Type 2 (MEN Type 2)
Test Type: Single Gene