Ontario Genetic Test Directory

This directory lists genetic tests available in Ontario. For tumour testing, visit the Comprehensive Cancer Biomarker Testing Program

The information in this directory is intended for informational purposes only and may not reflect all recent updates. 

Please contact the providing laboratory directly to confirm availability of testing or whether any additional information is required (for example, requisitions or sample requirements). 

Displaying Results

29 Results

Adult Mitochondrial Disease Nuclear Gene Panel

Category: Mitochondrial
Subcategory: Mitochondrial nuclear gene
Test Type: Gene Panel

Alpha Thalassemia

Category: Hematology
Subcategory: Alpha Thalassemia
Test Type: Gene Panel

Beta Thalassemia

Category: Hematology
Subcategory: Beta Thalassemia
Test Type: Gene Panel

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 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