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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64 Results

Ashkenazi Jewish Panel

Category: Cancer
Subcategory: Ashkenazi Jewish Panel
Test Type: Targeted Variant

Autosomal dominant PKD Analysis

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

Autosomal recessive PKD Analysis

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

AXIN2-related Attenuated Familial Adenomatous Polyposis

Category: Cancer
Subcategory: AXIN2-related Attenuated Familial Adenomatous Polyposis
Test Type: Single Gene

BAP1 Tumour Predisposition Syndrome

Category: Cancer
Subcategory: BAP1 Tumour Predisposition Syndrome
Test Type: Single Gene

Birt-Hogg-Dube Syndrome

Category: Cancer
Subcategory: Birt-Hogg-Dube Syndrome
Test Type: Single Gene

Carney Complex

Category: Cancer
Subcategory: Carney Complex
Test Type: Single Gene

Constitutional Chromosome Analysis (Karyotype)

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Chromosomal Anomalies

DICER-associated Syndrome

Category: Cancer
Subcategory: DICER-associated Syndrome
Test Type: Single Gene

DPYD

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