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

16 Results

Hereditary Hearing Loss: Stickler Syndrome

Category: Audiology, Connective Tissue
Subcategory: Stickler Syndrome
Test Type: Gene Panel

Loeys-Dietz Syndrome

Category: Cardiogenetics, Connective Tissue
Subcategory: Loeys-Dietz Syndrome
Test Type: Gene Panel

Marfan syndrome

Category: Cardiogenetics, Connective Tissue
Subcategory: Marfan Syndrome
Test Type: Single Gene

Russell Silver Syndrome

Category: Skeletal/growth
Subcategory: Russell Silver Syndrome
Test Type: Cytogenetic

Simpson-Golabi-Behmel Syndrome: GPC3 Sequencing, GPC3 and GPC4 Deletion/Duplication Analysis

Category: Skeletal/growth
Subcategory: Simpson-Golabi-Behmel Syndrome
Test Type: Gene Panel

Thanatophoric Dysplasia (Type I & II)

Category: Skeletal/growth
Subcategory: Thanatophoric Dysplasia
Test Type: Gene Panel