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

23 Results

Achondroplasia / Hypochondroplasia

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

Adult Mitochondrial Disease Nuclear Gene Panel

Category: Mitochondrial
Subcategory: Mitochondrial nuclear gene
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

Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency

Category: Endocrinology
Subcategory: Congenital Adrenal Hyperplasia
Test Type: Single Gene

Congenital Adrenal Hyperplasia: Other

Category: Endocrinology
Subcategory: Congenital Adrenal Hyperplasia
Test Type: Gene Panel

Craniosynostosis Molecular Analysis

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

Familial Hypercholesterolemia

Category: Endocrinology
Subcategory: Familial Hypercholesterolemia
Test Type: Gene Panel

Familial Hypercholesterolemia

Category: Endocrinology
Subcategory: Familial Hypercholesterolemia
Test Type: Gene Panel