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

Familial Soft Tissue Cancers

Category: Cancer
Subcategory: Hereditary Soft Tissue Sarcomas
Test Type: Gene Panel

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

Galactose-1-Phosphate Uridyl Transferase Deficiency

Category: Metabolic
Subcategory: Galactose-1-Phosphate Uridyl Transferase Deficiency
Test Type: Single Gene

Gamma Polymerase Deficiency

Category: Metabolic
Subcategory: Gamma Polymerase Deficiency (POLG)
Test Type: Single Gene

Hemoglobin Variants

Category: Fertility/Reproductive, Hematology
Subcategory: Hemoglobin Diseases
Test Type: Gene Panel

Hereditary Breast/Ovarian/Prostate Cancer Panel

Category: Cancer
Subcategory: Hereditary Breast, Ovarian, Prostate Cancer
Test Type: Gene Panel

Hereditary Cancer Panel

Category: Cancer
Subcategory: Hereditary Comprehensive Cancer
Test Type: Gene Panel

Hereditary Central Nervous System Tumours

Category: Cancer
Subcategory: Hereditary Central Nervous System (CNS) Tumours
Test Type: Gene Panel

Hereditary Endometrial Cancer

Category: Cancer
Subcategory: Hereditary Endometrial Cancer
Test Type: Gene Panel