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

152 Results

Niemann-Pick Disease

Category: Metabolic
Subcategory: Niemann-Pick Disease
Test Type: Gene Panel

Nijmegen Breakage Syndrome

Category: Cancer
Subcategory: Nijmegen Breakage Syndrome
Test Type: Single Gene

Non-Syndromic Recessive Deafness

Category: Audiology
Subcategory: Non-Syndromic Hearing Loss
Test Type: Gene Panel

Ornithine transcarbamylase deficiency

Category: Metabolic
Subcategory: Ornithine transcarbamylase deficiency
Test Type: Single Gene

Peutz-Jeghers Syndrome

Category: Cancer
Subcategory: Peutz-Jeghers Syndrome
Test Type: Single Gene

Phenylketonuria

Category: Metabolic
Subcategory: Amino Acid Disorders

Phenylketonuria: Biopterin deficiencies

Category: Metabolic
Subcategory: Amino Acid Disorders
Test Type: Gene Panel

Phenylketonuria: PAH deficiency

Category: Metabolic
Subcategory: Amino Acid Disorders
Test Type: Single Gene

Primary immune deficiencies

Category: Immunity
Subcategory: Primary immune deficiencies
Test Type: Gene Panel

Progressive external ophthalmoplegia (PEO) and Optic atrophy

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