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.

Displaying Results

38 Results

DPYD Genotyping

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

DPYD Genotyping

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

DPYD Genotyping

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

FISH: Disorders of sex development (SRY/DYZ1/DXZ1)

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Disorders of Sex Development
Test Type: Cytogenetic

Fragile X-associated Premature Ovarian Insufficiency (FXPOI)

Category: Fertility/Reproductive, Neurodevelopmental
Subcategory: Fragile X Syndrome
Test Type: Single Gene

Hemoglobin Variants

Category: Fertility/Reproductive, Hematology
Subcategory: Hemoglobin Diseases
Test Type: Gene Panel

Karyotype

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

Karyotype, GTG-banding

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Chromosomal Anomalies
Test Type: Cytogenetic

Malignant Hyperthermia

Category: Neurogenetics, Pharmacogenetics
Subcategory: Malignant Hyperthermia
Test Type: Gene Panel

Maternal cell contamination

Category: Fertility/Reproductive, Multipurpose
Subcategory: Maternal cell contamination