Ontario Genetic Test Directory

This directory lists diagnostic genetic tests available in Ontario for rare and inherited diseases, including molecular genetic, constitutional cytogenetic and pharmacogenetic tests.

This directory does not include:

Please contact your local genetics laboratory to confirm availability of testing, patient eligibility or sample requirements.

See Genetics Guidance for evidence-based clinical guidance on genetic testing in Ontario, and the Ontario Genetics Clinic Directory for a list of genetics clinics in Ontario.

The information in this directory is intended for informational purposes only and may not reflect all recent updates.

Displaying Results

11 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

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

RNA sequencing of whole transcriptome

Category: Genome-wide
Subcategory: Whole Transcriptome Sequencing

WES (Singleton, Duo, Trio, Quad)

Category: Genome-wide
Subcategory: Whole Exome Sequencing (WES)
Test Type: Genome-wide

WGS (Singleton, Duo, Trio, Quad)

Category: Genome-wide
Subcategory: Whole Genome Sequencing (WGS)
Test Type: Genome-wide

Whole Exome Sequencing (WES)

Category: Genome-wide
Subcategory: Whole Exome Sequencing (WES)