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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109 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

Lynch Syndrome

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

Malignant Hyperthermia

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

MEN1 Syndrome

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

Microarray for Prenatal and Perinatal testing

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Microarray: Microduplication/deletion Syndrome- Prenatal

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