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.

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7 Results

Comprehensive Cancer Panel (Germline)

Category: Cancer
Subcategory: Hereditary Comprehensive Cancer

Li-Fraumeni

Category: Cancer
Subcategory: Li-Fraumeni Syndrome
Test Type: Single Gene

Neurofibromatosis Type 1/Legius Syndrome

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

Rhabdoid Tumour Predisposition Syndrome

Category: Cancer
Subcategory: Rhabdoid Tumor Predisposition Syndrome (RTPS)
Test Type: Single Gene

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