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

15 Results

Alpha-1-Antitrypsin Deficiency

Category: Respiratory
Subcategory: Alpha-1-Antitrypsin Deficiency
Test Type: Single Gene

Cystic Fibrosis

Category: Fertility/Reproductive, Respiratory
Subcategory: Cystic Fibrosis
Test Type: Targeted Variant

Cystic Fibrosis

Category: Respiratory
Subcategory: Cystic Fibrosis
Test Type: Single Gene

Microarray Analysis

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

Microcephaly, Amish type

Category: Multiple Congenital Anomalies
Subcategory: Microcephaly
Test Type: Single Gene

Noonan Syndrome and RASopathies

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

Rapid Aneuploidy Detection (RAD)

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

Rare Familial Mutations

Category: Genome-wide
Subcategory: Known Familial Variant

Rare Familial Mutations

Category: Genome-wide
Subcategory: Known Familial Variant

Rare Family Variant Sequencing

Category: Genome-wide
Subcategory: Known Familial Variant