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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179 Results

Familial Adenomatous Polyposis (CHRPE, CMV Thyroid, Desmoid) Panel

Category: Cancer
Subcategory: Familial Adenomatous Polyposis
Test Type: Gene Panel

Familial Dysautonomia

Category: Neurogenetics
Subcategory: Familial Dysautonomia
Test Type: Targeted Variant

Familial Gastrointestinal Stromal Panel

Category: Cancer
Subcategory: Familial Gastrointestinal Stromal (GIST)
Test Type: Gene Panel

Familial Hypercholesterolemia

Category: Endocrinology
Subcategory: Familial Hypercholesterolemia
Test Type: Gene Panel

Familial Isolated Pituitary Adenoma

Category: Cancer
Subcategory: Familial Isolated Pituitary Adenoma
Test Type: Single Gene

Familial Melanoma Panel

Category: Cancer
Subcategory: Familial Melanoma
Test Type: Gene Panel

Familial Renal Panel

Category: Cancer
Subcategory: Hereditary Renal Cancer
Test Type: Gene Panel

Fanconi Anemia (DEB, MMC)

Category: Hematology
Subcategory: Fanconi Anemia
Test Type: Cytogenetic

Fanconi Anemia Group C

Category: Hematology
Subcategory: Fanconi Anemia
Test Type: Targeted Variant

FISH: Angelman Syndrome (AS)

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