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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77 Results

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel

Category: Cardiogenetics
Subcategory: Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
Test Type: Gene Panel

Chromosome analysis

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Chromosomal Anomalies

Facioscapulohumeral Muscular Dystrophy

Category: Neurogenetics
Subcategory: Facioscapulohumeral Muscular Dystrophy
Test Type: Other

Factor II/Factor V

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

Factor V Leiden

Category: Hematology
Subcategory: Thrombophilia (Factor V Leiden)
Test Type: Single Gene

Familial Hypercholesterolemia

Category: Endocrinology
Subcategory: Familial Hypercholesterolemia
Test Type: Gene Panel

FISH: 22q11.21 Deletion Syndrome (DiGeorge)

Category: Chromosomal Anomalies
Subcategory: 22q11.21 Deletion Syndrome
Test Type: Cytogenetic

FISH Analysis

Category: Chromosomal Anomalies
Subcategory: FISH: 22q11.21 Deletion Syndrome
Test Type: Cytogenetic

FISH Analysis - Cascade

Category: Chromosomal Anomalies
Subcategory: FISH- Cascade
Test Type: Cytogenetic

FISH: Cri-du-Chat Syndrome

Category: Chromosomal Anomalies
Subcategory: Cri-du-Chat Syndrome
Test Type: Cytogenetic