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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154 Results

Congenital Muscular Dystrophy

Category: Neurogenetics
Subcategory: Congenital Muscular Dystrophy
Test Type: Gene Panel

Connective Tissue Disease: Bone Involvement Panel

Category: Connective Tissue
Subcategory: Bone Involvement
Test Type: Gene Panel

Connective Tissue Disease: Ehlers-Danlos Syndrome Panel

Category: Cardiogenetics, Connective Tissue
Subcategory: Ehlers-Danlos Syndrome
Test Type: Gene Panel

Connective Tissue Disease: Osteogenesis Imperfecta Panel

Category: Connective Tissue
Subcategory: Osteogenesis Imperfecta
Test Type: Gene Panel

Connective Tissue Disease: Osteopetrosis and disorders of increased bone density Panel

Category: Connective Tissue
Subcategory: Osteopetrosis and disorders of increased bone density
Test Type: Gene Panel

Constitutional Chromosome Analysis

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Chromosomal Anomalies
Test Type: Cytogenetic

Constitutional FISH panel: 22q11.21 Deletion Syndrome

Category: Chromosomal Anomalies
Subcategory: FISH: 22q11.21 Deletion Syndrome
Test Type: Cytogenetic

Constitutional FISH panel: Aneuvysion FISH

Category: Chromosomal Anomalies
Subcategory: Aneuploidy Studies
Test Type: Cytogenetic

Constitutional FISH panel: Angelmans Syndrome

Category: Chromosomal Anomalies
Subcategory: FISH: Angelman/Prader Willi Syndrome
Test Type: Cytogenetic

Constitutional FISH panel: Cri-du-Chat Syndrome

Category: Chromosomal Anomalies
Subcategory: FISH: Cri-du-Chat Syndrome
Test Type: Cytogenetic