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

56 Results

Mucopolysaccharidosis type 1

Category: Metabolic
Subcategory: Mucopolysaccharidosis type 1
Test Type: Single Gene

Multiple Carboxylase Deficiency

Category: Metabolic
Subcategory: Organic Acid Disorders
Test Type: Gene Panel

Multiple carboxylase Deficiency: Biotinidase Deficiency

Category: Metabolic
Subcategory: Organic Acid Disorders
Test Type: Single Gene

Multiple carboxylase deficiency: Other

Category: Metabolic
Subcategory: Organic Acid Disorders
Test Type: Gene Panel

Phenylketonuria

Category: Metabolic
Subcategory: Amino Acid Disorders

Phenylketonuria: Biopterin deficiencies

Category: Metabolic
Subcategory: Amino Acid Disorders
Test Type: Gene Panel

Phenylketonuria: PAH deficiency

Category: Metabolic
Subcategory: Amino Acid Disorders
Test Type: Single Gene

Primary immune deficiencies

Category: Immunity
Subcategory: Primary immune deficiencies
Test Type: Gene Panel

Progressive external ophthalmoplegia (PEO) and Optic atrophy

Category: Mitochondrial
Subcategory: Mitochondrial nuclear gene
Test Type: Gene Panel

Propionic / Methylmalonic acidemias

Category: Metabolic
Subcategory: Fatty Acid Oxidation Diseases
Test Type: Gene Panel