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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Peutz-Jeghers Syndrome

Category: Cancer
Subcategory: Peutz-Jeghers Syndrome
Test Type: Single Gene

Pharmacogenetic testing - DPYD

Category: Pharmacogenetics
Subcategory: Dihydropyrimidine dehydrogenase deficiency (DPYD)
Test Type: Targeted Variant

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

PKD Full Analysis

Category: Renal
Subcategory: Polycystic Kidney Disease
Test Type: Gene Panel

PKD1 Deletion/Duplication only

Category: Renal
Subcategory: Polycystic Kidney Disease
Test Type: Single Gene

PKD1 Sequencing only

Category: Renal
Subcategory: Polycystic Kidney Disease
Test Type: Single Gene

PKD2 Deletion/Duplication only

Category: Renal
Subcategory: Polycystic Kidney Disease
Test Type: Single Gene

PKD2 Sequencing only

Category: Renal
Subcategory: Polycystic Kidney Disease
Test Type: Single Gene