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). 

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90 Results

Niemann-Pick Disease (Type A & B)

Category: Metabolic
Subcategory: Niemann-Pick Disease
Test Type: Targeted Variant

Ornithine transcarbamylase deficiency

Category: Metabolic
Subcategory: Ornithine transcarbamylase deficiency
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

Postnatal chromosome microarray

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

Prader Willi syndrome

Category: Neurodevelopmental
Subcategory: Prader Willi syndrome
Test Type: Single Gene

Prader-Willi Syndrome

Category: Neurodevelopmental
Subcategory: Prader Willi syndrome
Test Type: Single Gene

Propionic / Methylmalonic acidemias

Category: Metabolic
Subcategory: Fatty Acid Oxidation Diseases
Test Type: Gene Panel

Propionic / Methylmalonic acidemias: Isolated MMA

Category: Metabolic
Subcategory: Fatty Acid Oxidation Diseases
Test Type: Gene Panel