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

15 Results

Achondroplasia / Hypochondroplasia

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

Beckwith-Wiedemann Syndrome

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

Bloom Syndrome

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

Canavan Disease

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

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

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

Craniosynostosis Molecular Analysis

Category: Skeletal/growth
Subcategory: Craniosynostosis
Test Type: Gene Panel

Fanconi Anemia (DEB, MMC)

Category: Hematology
Subcategory: Fanconi Anemia
Test Type: Cytogenetic

Fanconi Anemia Group C

Category: Hematology
Subcategory: Fanconi Anemia
Test Type: Targeted Variant

Hereditary Hemorrhagic Telangiectasia: ACVRL1, ENG

Category: Hematology
Subcategory: Hereditary Hemorrhagic Telangiectasia (HHT)
Test Type: Gene Panel

Hereditary Hemorrhagic Telangiectasia: SMAD4 Sequencing

Category: Hematology
Subcategory: Hereditary Hemorrhagic Telangiectasia (HHT)
Test Type: Single Gene