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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Postnatal rapid aneuploidy testing

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

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

Prader-Willi Syndrome - UPD

Category: Chromosomal Anomalies
Subcategory: Uniparental Disomy: Angelman Syndrome/Prader Willi Syndrome
Test Type: Cytogenetic

Prenatal chromosome microarray

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Microduplication/deletion Syndrome- Prenatal
Test Type: Cytogenetic

Prenatal rapid aneuploidy testing

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Aneuploidy Studies- Prenatal
Test Type: Cytogenetic

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

Progressive Myoclonic Epilepsy Panel

Category: Neurogenetics
Subcategory: Progressive Myoclonic Epilepsy
Test Type: Gene Panel

Propionic / Methylmalonic acidemias

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