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

34 Results

22q11.2 Deletion Syndrome

Category: Neurodevelopmental
Subcategory: 22q11.21 Deletion Syndrome
Test Type: Gene Panel

Alpha-1-Antitrypsin Deficiency

Category: Respiratory
Subcategory: Alpha-1-Antitrypsin Deficiency
Test Type: Single Gene

Angelman Syndrome

Category: Neurodevelopmental
Subcategory: Angelman/Prader Willi Syndrome
Test Type: Single Gene

Angelman Syndrome

Category: Neurodevelopmental
Subcategory: Angelman Syndrome
Test Type: Single Gene

Arterial Tortuosity Syndrome

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

Connective Tissue Disease: Bone Involvement Panel

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

Connective Tissue Disease: Ehlers-Danlos Syndrome Panel

Category: Cardiogenetics, Connective Tissue
Subcategory: Ehlers-Danlos Syndrome
Test Type: Gene Panel

Connective Tissue Disease: Osteogenesis Imperfecta Panel

Category: Connective Tissue
Subcategory: Osteogenesis Imperfecta
Test Type: Gene Panel

Connective Tissue Disease: Osteopetrosis and disorders of increased bone density Panel

Category: Connective Tissue
Subcategory: Osteopetrosis and disorders of increased bone density
Test Type: Gene Panel

Cystic Fibrosis

Category: Fertility/Reproductive, Respiratory
Subcategory: Cystic Fibrosis
Test Type: Targeted Variant