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

83 Results

Hereditary Pheochromocytoma and Paraganglioma

Category: Cancer
Subcategory: Hereditary Pheochromocytoma and Paraganglioma
Test Type: Gene Panel

Hereditary Thrombophilia

Category: Hematology
Subcategory: Thrombophilia (Factor II Prothrombin and V Leiden)
Test Type: Targeted Variant

Hyperferritinemia Cataract Syndrome

Category: Ophthalmology
Subcategory: Hyperferritinemia Cataract Syndrome
Test Type: Single Gene

karyotype (G-banding)

Category: Chromosomal Anomalies
Subcategory: Chromosomal Anomalies
Test Type: Cytogenetic

Li-Fraumeni Syndrome

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

Lynch Syndrome Panel

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

Medium Chain Acyl-Coenzyme Deficiency

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

MEN1 Syndrome

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

Metachromatic Leukodystrophy

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

Microarray (Constitutional) Postnatal, Blood - DIAGNOSTIC Testing

Category: Chromosomal Anomalies, Neurodevelopmental
Subcategory: Microarray: Microduplication/deletion Syndrome
Test Type: Cytogenetic