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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78 Results

Neurofibromatosis, Type 1 (NF1)

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

Nevoid Basal Cell Carcinoma/ Gorlin Syndrome

Category: Cancer
Subcategory: Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)
Test Type: Gene Panel

Nijmegen Breakage syndrome (NBN)

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

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

Peutz-Jeghers Syndrome

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

Pharmacogenetic testing - DPYD

Category: Pharmacogenetics
Subcategory: Dihydropyrimidine dehydrogenase deficiency (DPYD)
Test Type: Targeted Variant

Polyposis

Category: Cancer
Subcategory: Hereditary Polyposis Syndrome
Test Type: Gene Panel

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