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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103 Results

Hyperferritinemia Cataract Syndrome

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

Identity Testing

Category: Multipurpose
Subcategory: Identity testing

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

Maternal Cell Contamination (MCC)

Category: Multipurpose
Subcategory: Maternal cell contamination
Test Type: Other

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

Mitochondrial Genome Panel

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