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

12 Results

Bloom Syndrome

Category: Hematology
Subcategory: Bloom Syndrome
Test Type: Cytogenetic, Targeted Variant

Coagulation Panel (Factor II, Factor V, and MTHFR)

Category: Hematology
Subcategory: Coagulation Panel
Test Type: Gene Panel, Targeted Variant

Comprehensive Cancer Panel (Germline)

Category: Cancer
Subcategory: Hereditary Comprehensive Cancer

Fanconi Anemia (DEB, MMC)

Category: Hematology
Subcategory: Fanconi Anemia
Test Type: Cytogenetic

Fanconi Anemia Group C

Category: Hematology
Subcategory: Fanconi Anemia
Test Type: Targeted Variant

Hereditary Hemorrhagic Telangiectasia: ACVRL1, ENG

Category: Hematology
Subcategory: Hereditary Hemorrhagic Telangiectasia (HHT)
Test Type: Gene Panel

Hereditary Hemorrhagic Telangiectasia: SMAD4 Sequencing

Category: Hematology
Subcategory: Hereditary Hemorrhagic Telangiectasia (HHT)
Test Type: Single Gene

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