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

17 Results

Mitochondrial Genome Panel

Category: Mitochondrial
Subcategory: Mitochondrial Genome
Test Type: Gene Panel

mtDNA depletion and deletion

Category: Mitochondrial
Subcategory: Mitochondrial nuclear gene
Test Type: Gene Panel

Progressive external ophthalmoplegia (PEO) and Optic atrophy

Category: Mitochondrial
Subcategory: Mitochondrial nuclear gene
Test Type: Gene Panel

Pyruvate dehydrogenase complex deficiency

Category: Mitochondrial
Subcategory: Mitochondrial nuclear gene
Test Type: Gene Panel

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

Thanatophoric Dysplasia (Type I & II)

Category: Skeletal/growth
Subcategory: Thanatophoric Dysplasia
Test Type: Gene Panel