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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173 Results

Actionable Gene Epilepsy Panel

Category: Neurogenetics
Subcategory: Actionable Epilepsy
Test Type: Gene Panel

Adenosine deaminase deficiency

Category: Immunity, Metabolic
Subcategory: Adenosine Deaminase Deficiency (ADA)
Test Type: Single Gene

Amyloidosis

Category: Renal
Subcategory: Amyloidosis
Test Type: Single Gene

Arginase Deficiency

Category: Metabolic
Subcategory: Arginase Deficiency
Test Type: Single Gene

Ashkenazi Jewish Panel

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

Ashkenazi Jewish Panel

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

AXIN2-related Attenuated Familial Adenomatous Polyposis

Category: Cancer
Subcategory: AXIN2-related Attenuated Familial Adenomatous Polyposis
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

BAP1 Tumour Predisposition Syndrome

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