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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152 Results

Constitutional FISH: Prader Willi/Angelman Syndrome

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

Constitutional FISH: Smith-Magenis Syndrome

Category: Chromosomal Anomalies
Subcategory: FISH: Smith-Magenis Syndrome
Test Type: Cytogenetic

Constitutional FISH: Williams Syndrome

Category: Chromosomal Anomalies
Subcategory: FISH: Williams Syndrome
Test Type: Cytogenetic

CPT1 deficiency

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

CPT2 deficiency

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

Cystic Fibrosis

Category: Fertility/Reproductive, Respiratory
Subcategory: Cystic Fibrosis
Test Type: Targeted Variant

Cystinosis

Category: Renal
Subcategory: Cystinosis
Test Type: Single Gene

DICER-associated Syndrome

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

DPYD Genotyping

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

Dysplastic Nevus Syndrome

Category: Cancer
Subcategory: Dysplastic Nevus Syndrome
Test Type: Gene Panel