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

12 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

Chondrodysplasia punctata 1

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

Craniosynostosis Molecular Analysis

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

Microarray Analysis

Category: Chromosomal Anomalies, Multiple Congenital Anomalies, Neurodevelopmental
Subcategory: Microarray: Microduplication/deletion Syndrome
Test Type: Cytogenetic

Microcephaly, Amish type

Category: Multiple Congenital Anomalies
Subcategory: Microcephaly
Test Type: Single Gene

Noonan Syndrome and RASopathies

Category: Cardiogenetics, Immunity, Multiple Congenital Anomalies
Subcategory: Noonan Syndrome and RASopathies
Test Type: Gene Panel

Rapid Aneuploidy Detection (RAD)

Category: Chromosomal Anomalies, Fertility/Reproductive, Multiple Congenital Anomalies
Subcategory: Aneuploidy Studies
Test Type: Other

Russell Silver Syndrome

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