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

10 Results

Achondroplasia / Hypochondroplasia

Category: Skeletal/growth
Subcategory: Achondroplasia and Hypochondroplasia
Test Type: Gene Panel

Beckwith-Wiedemann Syndrome

Category: Skeletal/growth
Subcategory: Beckwith-Wiedemann Syndrome
Test Type: Single Gene

Canavan Disease

Category: Skeletal/growth
Subcategory: Canavan Disease
Test Type: Targeted Variant

Craniosynostosis Molecular Analysis

Category: Skeletal/growth
Subcategory: Craniosynostosis
Test Type: Gene Panel

Fabry Disease

Category: Metabolic
Subcategory: Fabry Disease
Test Type: Single Gene

Mucolipidosis (Type IV)

Category: Metabolic
Subcategory: Mucolipidosis
Test Type: Targeted Variant

Niemann-Pick Disease (Type A & B)

Category: Metabolic
Subcategory: Niemann-Pick Disease
Test Type: Targeted Variant

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