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

58 Results

Achondroplasia / Hypochondroplasia

Category: Skeletal/growth
Subcategory: Achondroplasia and Hypochondroplasia
Test Type: Gene Panel

Alpha Thalassemia

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

Arterial Tortuosity Syndrome

Category: Cardiogenetics, Connective Tissue
Subcategory: Arterial Tortuosity Syndrome
Test Type: Single Gene

Beckwith-Wiedemann Syndrome

Category: Skeletal/growth
Subcategory: Beckwith-Wiedemann Syndrome
Test Type: Single Gene

Beta Thalassemia

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

Bloom Syndrome

Category: Hematology
Subcategory: Bloom Syndrome
Test Type: Cytogenetic, Targeted Variant

Canavan Disease

Category: Skeletal/growth
Subcategory: Canavan Disease
Test Type: Targeted Variant

Chondrodysplasia punctata 1

Category: Skeletal/growth
Subcategory: Chondrodysplasia punctata 1
Test Type: Single Gene

Coagulation Panel (Factor II, Factor V, and MTHFR)

Category: Hematology
Subcategory: Coagulation Panel
Test Type: Gene Panel, Targeted Variant

Connective Tissue Disease: Bone Involvement Panel

Category: Connective Tissue
Subcategory: Bone Involvement
Test Type: Gene Panel