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

11 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

Canavan Disease

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

Comprehensive Cancer Panel (Germline)

Category: Cancer
Subcategory: Hereditary Comprehensive Cancer

Craniosynostosis Molecular Analysis

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

Li-Fraumeni

Category: Cancer
Subcategory: Li-Fraumeni Syndrome
Test Type: Single Gene

Neurofibromatosis Type 1/Legius Syndrome

Category: Cancer
Subcategory: Neurofibromatosis type 1
Test Type: Gene Panel

Rhabdoid Tumour Predisposition Syndrome

Category: Cancer
Subcategory: Rhabdoid Tumor Predisposition Syndrome (RTPS)
Test Type: Single Gene

Russell Silver Syndrome

Category: Skeletal/growth
Subcategory: Russell Silver Syndrome
Test Type: Cytogenetic

Simpson-Golabi-Behmel Syndrome: GPC3 Sequencing, GPC3 and GPC4 Deletion/Duplication Analysis

Category: Skeletal/growth
Subcategory: Simpson-Golabi-Behmel Syndrome
Test Type: Gene Panel