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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109 Results

Mitochondrial Genome Panel

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

Mucolipidosis (Type IV)

Category: Metabolic
Subcategory: Mucolipidosis
Test Type: Targeted Variant

Neurofibromatosis Type 1/Legius Syndrome

Category: Cancer
Subcategory: Neurofibromatosis type 1
Test Type: Gene Panel

Niemann-Pick Disease (Type A & B)

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

Noonan Syndrome and RASopathies

Category: Cardiogenetics, Immunity, Multiple Congenital Anomalies
Subcategory: Noonan Syndrome and RASopathies
Test Type: Gene Panel

Perinatal Chromosome Microarray

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

Perinatal rapid aneuploidy testing

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

Postnatal chromosome microarray

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

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